Variant report

Variant	esv1830566
Chromosome Location	chr12:123640853-123822503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3169)
CpG islands
(count:3601)
Chromatin interactive
region (count:256)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:3169 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123777776-123778317	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123717359-123718236	K562	blood:	n/a	n/a
3	ARID3A	chr12:123717021-123718163	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123754668-123754811	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:123722699-123722953	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:123722748-123722853	K562	blood:	n/a	n/a
7	ARID3A	chr12:123756709-123756904	K562	blood:	n/a	n/a
8	ATF1	chr12:123717293-123718156	K562	blood:	n/a	n/a
9	ATF2	chr12:123648444-123649206	GM12878	blood:	n/a	n/a
10	ATF2	chr12:123717298-123717819	GM12878	blood:	n/a	n/a
11	ATF2	chr12:123721847-123723074	GM12878	blood:	n/a	n/a
12	ATF2	chr12:123762667-123763346	GM12878	blood:	n/a	n/a
13	ATF2	chr12:123717344-123718068	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr12:123762651-123763327	GM12878	blood:	n/a	n/a
15	ATF2	chr12:123716993-123717733	GM12878	blood:	n/a	n/a
16	ATF2	chr12:123754580-123755012	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr12:123716799-123717823	A549	lung:	n/a	chr12:123717501-123717515 chr12:123717694-123717703
18	BACH1	chr12:123716581-123716766	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:123753966-123754199	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr12:123771526-123771688	K562	blood:	n/a	n/a
21	BACH1	chr12:123717290-123718425	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr12:123707702-123708072	GM12878	blood:	n/a	n/a
23	BATF	chr12:123762784-123763205	GM12878	blood:	n/a	n/a
24	BATF	chr12:123762761-123763216	GM12878	blood:	n/a	n/a
25	BATF	chr12:123707687-123707980	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:123762765-123763189	GM12878	blood:	n/a	n/a
27	BCL11A	chr12:123762845-123763095	GM12878	blood:	n/a	n/a
28	BCL3	chr12:123717059-123718641	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
29	BCL3	chr12:123803847-123804160	GM12878	blood:	n/a	n/a
30	BCL3	chr12:123734932-123736018	A549	lung:	n/a	n/a
31	BCL3	chr12:123803789-123804177	GM12878	blood:	n/a	n/a
32	BCL3	chr12:123771233-123771663	A549	lung:	n/a	n/a
33	BCL3	chr12:123756507-123757008	A549	lung:	n/a	chr12:123756611-123756624 chr12:123756617-123756630 chr12:123756618-123756631
34	BCL3	chr12:123717029-123718115	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
35	BCLAF1	chr12:123762782-123763326	GM12878	blood:	n/a	n/a
36	BCLAF1	chr12:123716970-123717770	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
37	BCLAF1	chr12:123755513-123755995	GM12878	blood:	n/a	chr12:123755547-123755560
38	BCLAF1	chr12:123762688-123763187	GM12878	blood:	n/a	n/a
39	BCLAF1	chr12:123707707-123708158	GM12878	blood:	n/a	n/a
40	BCLAF1	chr12:123721174-123721652	GM12878	blood:	n/a	n/a
41	BCLAF1	chr12:123717123-123717822	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
42	BCLAF1	chr12:123707708-123708248	GM12878	blood:	n/a	n/a
43	BCLAF1	chr12:123721858-123723038	GM12878	blood:	n/a	n/a
44	BHLHE40	chr12:123755245-123755399	K562	blood:	n/a	chr12:123755251-123755267 chr12:123755379-123755395 chr12:123755252-123755268
45	BHLHE40	chr12:123739727-123739824	A549	lung:	n/a	n/a
46	BHLHE40	chr12:123716701-123716744	K562	blood:	n/a	n/a
47	BHLHE40	chr12:123707720-123708034	GM12878	blood:	n/a	n/a
48	BHLHE40	chr12:123722645-123722914	GM12878	blood:	n/a	n/a
49	BHLHE40	chr12:123721200-123721652	GM12878	blood:	n/a	n/a
50	BHLHE40	chr12:123717255-123718246	GM12878	blood:	n/a	chr12:123717626-123717642

(count:3601 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123757860-123757910	HAEpiC	amniotic membrane:	n/a
2	chr12:123756755-123756805	RPTEC	kidney:	n/a
3	chr12:123757860-123757910	HAEpiC	amniotic membrane:	n/a
4	chr12:123756755-123756805	RPTEC	kidney:	n/a
5	chr12:123757536-123757586	AG09309	skin:	n/a
6	chr12:123727023-123727073	IMR90	lung:	fetal
7	chr12:123757536-123757586	PrEC	prostate:	n/a
8	chr12:123718121-123718171	HRCEpiC	kidney:	n/a
9	chr12:123717788-123717838	MCF-7	breast:	n/a
10	chr12:123757892-123757942	HCT-116	colon:	n/a
11	chr12:123753186-123753236	HCF	heart:	n/a
12	chr12:123754071-123754121	GM12891	blood:	n/a
13	chr12:123718415-123718465	RPTEC	kidney:	n/a
14	chr12:123750782-123750832	SK-N-MC	brain:	n/a
15	chr12:123753212-123753262	HL-60	blood:	n/a
16	chr12:123756791-123756841	GM12891	blood:	n/a
17	chr12:123718121-123718171	SAEC	small airway:	n/a
18	chr12:123706092-123706142	HRCEpiC	kidney:	n/a
19	chr12:123717050-123717100	T-47D	breast:	n/a
20	chr12:123756945-123756995	HCPEpiC	choroid plexus:	n/a
21	chr12:123754071-123754121	ECC-1	luminal epithelium:	n/a
22	chr12:123718047-123718097	PrEC	prostate:	n/a
23	chr12:123754328-123754378	BJ	skin:	n/a
24	chr12:123754071-123754121	AG10803	skin:	n/a
25	chr12:123756739-123756789	SAEC	small airway:	n/a
26	chr12:123707825-123707875	BJ	skin:	n/a
27	chr12:123756791-123756841	PFSK-1	brain:	n/a
28	chr12:123717480-123717530	PrEC	prostate:	n/a
29	chr12:123757070-123757120	U87	brain:	n/a
30	chr12:123756791-123756841	GM06990	blood:	n/a
31	chr12:123718281-123718331	HMEC	breast:	n/a
32	chr12:123775040-123775090	IMR90	lung:	fetal
33	chr12:123717480-123717530	CMK	blood:	n/a
34	chr12:123757018-123757068	GM19239	blood:	n/a
35	chr12:123717888-123717938	PrEC	prostate:	n/a
36	chr12:123757892-123757942	K562	blood:	n/a
37	chr12:123707827-123707877	HL-60	blood:	n/a
38	chr12:123734136-123734186	Caco-2	colon:	n/a
39	chr12:123717050-123717100	K562	blood:	n/a
40	chr12:123754235-123754285	CMK	blood:	n/a
41	chr12:123758853-123758903	ProgFib	skin:	n/a
42	chr12:123756739-123756789	CMK	blood:	n/a
43	chr12:123757413-123757463	GM12878	blood:	n/a
44	chr12:123707827-123707877	HCF	heart:	n/a
45	chr12:123775040-123775090	ECC-1	luminal epithelium:	n/a
46	chr12:123755018-123755068	GM06990	blood:	n/a
47	chr12:123718415-123718465	AG04450	lung:	fetal
48	chr12:123756791-123756841	NHBE	bronchial:	n/a
49	chr12:123753212-123753262	HIPEpiC	eye:	n/a
50	chr12:123706092-123706142	SK-N-SH_RA	brain:	n/a

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr12:123635735..123637727-chr12:123641892..123644139,3	MCF-7	breast:
2	chr12:123344301..123346489-chr12:123716077..123720315,3	K562	blood:
3	chr12:123735701..123738592-chr12:123744837..123746422,2	MCF-7	breast:
4	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
5	chr12:123792214..123794123-chr12:123802849..123804480,2	MCF-7	breast:
6	chr12:123717406..123718006-chr3:151986382..151986970,2	Hela-S3	cervix:
7	chr12:123449477..123453379-chr12:123715163..123718004,4	MCF-7	breast:
8	chr12:123733838..123737944-chr12:123742344..123746385,6	MCF-7	breast:
9	chr12:123469171..123471248-chr12:123684974..123686845,2	K562	blood:
10	chr12:123717076..123718967-chr12:123720807..123722850,2	MCF-7	breast:
11	chr12:123716188..123719079-chr12:123740733..123744668,4	K562	blood:
12	chr12:123800441..123804487-chr12:123872716..123875619,3	MCF-7	breast:
13	chr12:123718175..123719849-chr12:123755538..123757797,2	MCF-7	breast:
14	chr12:123794013..123795517-chr12:124095818..124097432,2	K562	blood:
15	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
16	chr12:123755747..123757789-chr12:123941373..123943090,2	K562	blood:
17	chr12:123463846..123466792-chr12:123754381..123757110,2	MCF-7	breast:
18	chr12:123717145..123718094-chr2:88315035..88316515,4	Hela-S3	cervix:
19	chr12:123380300..123383026-chr12:123716228..123718007,3	K562	blood:
20	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
21	chr12:123682880..123685594-chr12:123715338..123719223,3	K562	blood:
22	chr12:123755184..123757288-chr12:123772860..123774485,3	K562	blood:
23	chr12:123754797..123757159-chr12:123801683..123804517,3	MCF-7	breast:
24	chr12:123681413..123683609-chr12:123687965..123690552,2	K562	blood:
25	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
26	chr12:123808230..123810207-chr12:123820394..123822529,2	K562	blood:
27	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
28	chr12:123797348..123800081-chr12:123802978..123805835,2	K562	blood:
29	chr12:123465824..123467766-chr12:123717384..123719608,2	MCF-7	breast:
30	chr12:123462884..123465858-chr12:123721353..123723553,2	MCF-7	breast:
31	chr12:52446813..52447635-chr12:123716880..123717854,2	Hela-S3	cervix:
32	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
33	chr12:123452751..123454277-chr12:123718785..123720840,2	MCF-7	breast:
34	chr12:123690531..123693221-chr12:123716223..123718820,3	K562	blood:
35	chr12:123449701..123452611-chr12:123716445..123719411,3	K562	blood:
36	chr12:123527755..123528597-chr12:123722388..123723377,4	MCF-7	breast:
37	chr12:123702115..123705680-chr12:123713540..123715755,3	MCF-7	breast:
38	chr12:123646433..123649058-chr12:123716040..123717583,2	MCF-7	breast:
39	chr12:123728345..123730190-chr12:123734058..123735826,2	MCF-7	breast:
40	chr12:123756182..123757104-chr14:78173946..78174895,2	NB4	blood:
41	chr12:123735647..123738456-chr12:123742871..123745926,3	K562	blood:
42	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:
43	chr12:123710719..123712763-chr12:123752312..123754653,2	K562	blood:
44	chr12:123721738..123724481-chr12:123725404..123728310,3	K562	blood:
45	chr11:67168900..67169444-chr12:123717028..123717926,2	Hela-S3	cervix:
46	chr12:123819626..123821954-chr12:123832677..123835923,3	K562	blood:
47	chr12:123717306..123717988-chr6:31620372..31621088,2	Hela-S3	cervix:
48	chr12:123637836..123642861-chr12:123644495..123649304,6	MCF-7	breast:
49	chr12:123436582..123437364-chr12:123722407..123722993,2	MCF-7	breast:
50	chr12:123661780..123663956-chr12:123666220..123668601,2	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDK2AP1-1	chr12:123745373-123745490	ENSG00000235423.4
2	lnc-CDK2AP1-1	chr12:123745373-123745766	ENSG00000235423.3
3	lnc-CDK2AP1-1	chr12:123743295-123743477	ENSG00000235423.3
4	lnc-CDK2AP1-2	chr12:123776575-123776937	NONHSAT031579
5	lnc-PITPNM2-1	chr12:123714584-123715069	NONHSAT031568
6	lnc-C12orf65-1	chr12:123746607-123746949	ENSG00000269980.1
7	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.3
8	lnc-CDK2AP1-1	chr12:123736789-123737089	ENSG00000235423.4
9	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.4
10	lnc-PITPNM2-1	chr12:123717622-123717648	NONHSAT031568
11	lnc-CDK2AP1-1	chr12:123728734-123728786	ENSG00000235423.3
12	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.3
13	lnc-CDK2AP1-1	chr12:123736577-123737089	ENSG00000235423.3
14	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.3
15	lnc-CDK2AP1-1	chr12:123736789-123737089	ENSG00000235423.3
16	lnc-CDK2AP1-1	chr12:123745373-123745490	ENSG00000235423.3
17	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.3
18	lnc-CDK2AP1-1	chr12:123745676-123746030	ENSG00000235423.4
19	lnc-CDK2AP1-3	chr12:123725076-123725238	NONHSAT031570
20	lnc-CDK2AP1-1	chr12:123744821-123744994	ENSG00000235423.3
21	lnc-CDK2AP1-1	chr12:123743590-123743695	ENSG00000235423.4
22	lnc-SBNO1-1	chr12:123773656-123774230	ENSG00000270113.1
23	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.3
24	lnc-CDK2AP1-3	chr12:123728369-123728499	NONHSAT031570
25	lnc-CDK2AP1-1	chr12:123745676-123746030	ENSG00000235423.3
26	lnc-CDK2AP1-1	chr12:123744821-123745050	ENSG00000235423.3
27	lnc-CDK2AP1-1	chr12:123743524-123743695	ENSG00000235423.3

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MPHOSPH9	hsa-miR-340-5p	chr12:123641008-123641030
2	MPHOSPH9	hsa-miR-19b-3p	chr12:123641313-123641340
3	MPHOSPH9	hsa-miR-130b-3p	chr12:123641318-123641311
4	MPHOSPH9	hsa-miR-19b-3p	chr12:123641319-123641313
5	MPHOSPH9	hsa-miR-340-5p	chr12:123641098-123641117
6	MPHOSPH9	hsa-miR-130b-3p	chr12:123641312-123641331
7	MPHOSPH9	hsa-miR-340-5p	chr12:123641262-123641283
8	MPHOSPH9	hsa-miR-340-5p	chr12:123641208-123641229
9	CDK2AP1	hsa-miR-21-5p	chr12:123745913-123745934

Variant related genes	Relation type
ENSG00000269980	TF binding region
MPHOSPH9	TF binding region
C12orf65	TF binding region
ENSG00000270113	TF binding region
CDK2AP1	TF binding region
RNA5SP375	TF binding region
ENSG00000235423	TF binding region
ENSG00000269980	CpG island
MPHOSPH9	CpG island
C12orf65	CpG island
ENSG00000270113	CpG island
CDK2AP1	CpG island
RNA5SP375	CpG island
ENSG00000235423	CpG island
ENSG00000167543	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000269980	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000181788	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000255839	chromatin interactions
ENSG00000235423	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000152601	chromatin interactions
ENSG00000119705	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000196123	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000104872	chromatin interactions
ENSG00000161618	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000073584	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000213977	chromatin interactions
ENSG00000154640	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000163132	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000270113	chromatin interactions
ENSG00000072864	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000127774	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000100601	chromatin interactions
ENSG00000199845	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000085276	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000207189	chromatin interactions
ENSG00000156017	chromatin interactions
ENSG00000139722	chromatin interactions
MIB1	miRNA target sites
LIN28A	miRNA target sites
ZNF644	miRNA target sites
GTF2I	miRNA target sites
MED13L	miRNA target sites

Extended variants
information (count: 7235 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:7235 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1727313	chr12:123640853-123640854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs56315722	chr12:123640870-123640871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540927825	chr12:123640875-123640876	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139176652	chr12:123640943-123640944	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537889983	chr12:123640997-123640998	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs551388060	chr12:123641016-123641017	Weak transcription Strong transcription	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
7	rs190369942	chr12:123641076-123641077	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs370024638	chr12:123641099-123641100	Weak transcription Strong transcription	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
9	rs530599708	chr12:123641146-123641147	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs1051434	chr12:123641200-123641201	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs144069423	chr12:123641239-123641240	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182058124	chr12:123641241-123641242	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370083524	chr12:123641314-123641315	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
14	rs553340634	chr12:123641318-123641319	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
15	rs142112645	chr12:123641355-123641356	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375272581	chr12:123641373-123641374	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145873046	chr12:123641384-123641385	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147813082	chr12:123641421-123641422	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557372282	chr12:123641539-123641540	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556917240	chr12:123641587-123641588	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575357830	chr12:123641601-123641602	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563423289	chr12:123641613-123641614	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs146484100	chr12:123641648-123641649	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372298728	chr12:123641676-123641677	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187664301	chr12:123641678-123641679	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573944209	chr12:123641698-123641699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573707842	chr12:123641749-123641750	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188974399	chr12:123641754-123641755	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559429565	chr12:123641774-123641775	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533249612	chr12:123641851-123641852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545049702	chr12:123641853-123641854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548644026	chr12:123641870-123641871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201372866	chr12:123641896-123641897	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7311411	chr12:123641899-123641900	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549058319	chr12:123641902-123641903	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs76218367	chr12:123641909-123641910	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs74240764	chr12:123641931-123641932	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567848622	chr12:123641942-123641943	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376751100	chr12:123641967-123641968	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149088958	chr12:123642059-123642060	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs143160626	chr12:123642067-123642068	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs571879140	chr12:123642074-123642075	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs538920750	chr12:123642099-123642100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs550579393	chr12:123642141-123642142	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568874597	chr12:123642193-123642194	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1727312	chr12:123642220-123642221	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs573279197	chr12:123642228-123642229	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534551913	chr12:123642282-123642283	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553108644	chr12:123642302-123642303	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373842917	chr12:123642309-123642310	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6378 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636400-123644600	Weak transcription	GM12878-XiMat	blood
2	chr12:123636400-123648000	Weak transcription	Fetal Kidney	kidney
3	chr12:123636400-123649000	Weak transcription	Small Intestine	intestine
4	chr12:123636400-123649200	Weak transcription	Brain Angular Gyrus	brain
5	chr12:123636400-123649800	Weak transcription	Ovary	ovary
6	chr12:123636400-123650200	Weak transcription	Aorta	Aorta
7	chr12:123636600-123644600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:123636600-123644800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:123636600-123644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:123636600-123645000	Weak transcription	NH-A	brain
11	chr12:123636600-123645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:123636600-123645200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:123636600-123645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:123636600-123647000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:123636600-123647000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:123636600-123647400	Weak transcription	HMEC	breast
17	chr12:123636600-123647600	Weak transcription	NHEK	skin
18	chr12:123636600-123648400	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:123636600-123648400	Weak transcription	HSMMtube	muscle
20	chr12:123636600-123660800	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:123636600-123676200	Weak transcription	Gastric	stomach
22	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
23	chr12:123636800-123643200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:123636800-123644200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:123636800-123645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:123636800-123645200	Weak transcription	NHDF-Ad	bronchial
27	chr12:123636800-123646200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:123636800-123646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:123636800-123647200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:123636800-123647400	Weak transcription	Placenta	Placenta
31	chr12:123636800-123647800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:123636800-123648000	Weak transcription	Brain Anterior Caudate	brain
33	chr12:123636800-123649000	Weak transcription	Right Ventricle	heart
34	chr12:123636800-123649200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:123636800-123649200	Weak transcription	Fetal Intestine Large	intestine
36	chr12:123636800-123650200	Weak transcription	Brain Substantia Nigra	brain
37	chr12:123636800-123675200	Weak transcription	Fetal Heart	heart
38	chr12:123636800-123679600	Weak transcription	Colonic Mucosa	Colon
39	chr12:123636800-123687400	Weak transcription	Psoas Muscle	Psoas
40	chr12:123637000-123642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123637000-123644000	Weak transcription	Hela-S3	cervix
42	chr12:123637000-123644200	Weak transcription	Adipose Nuclei	Adipose
43	chr12:123637000-123644800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:123637000-123645000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:123637000-123645000	Weak transcription	Fetal Brain Male	brain
46	chr12:123637000-123645000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:123637000-123645200	Weak transcription	Fetal Lung	lung
48	chr12:123637000-123647000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:123637000-123647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:123637000-123648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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