Variant report

Variant	nsv870326
Chromosome Location	chr12:123585990-123719323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2285)
CpG islands
(count:3238)
Chromatin interactive
region (count:239)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:2285 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123626226-123626861	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123634019-123634327	K562	blood:	n/a	n/a
3	ARID3A	chr12:123611130-123611552	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123610933-123611537	K562	blood:	n/a	n/a
5	ARID3A	chr12:123717021-123718163	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:123625448-123625929	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:123717359-123718236	K562	blood:	n/a	n/a
8	ATF1	chr12:123611055-123611488	K562	blood:	n/a	n/a
9	ATF1	chr12:123600183-123600663	K562	blood:	n/a	n/a
10	ATF1	chr12:123717293-123718156	K562	blood:	n/a	n/a
11	ATF2	chr12:123604315-123604780	GM12878	blood:	n/a	n/a
12	ATF2	chr12:123717344-123718068	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr12:123599870-123600506	GM12878	blood:	n/a	n/a
14	ATF2	chr12:123648444-123649206	GM12878	blood:	n/a	n/a
15	ATF2	chr12:123716993-123717733	GM12878	blood:	n/a	n/a
16	ATF2	chr12:123717298-123717819	GM12878	blood:	n/a	n/a
17	ATF3	chr12:123626151-123627053	A549	lung:	n/a	n/a
18	ATF3	chr12:123716799-123717823	A549	lung:	n/a	chr12:123717501-123717515 chr12:123717694-123717703
19	ATF3	chr12:123626506-123626822	K562	blood:	n/a	n/a
20	ATF3	chr12:123611037-123611446	K562	blood:	n/a	n/a
21	BACH1	chr12:123610847-123611525	K562	blood:	n/a	n/a
22	BACH1	chr12:123610988-123611789	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr12:123634748-123634916	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr12:123716581-123716766	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr12:123717290-123718425	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr12:123707687-123707980	GM12878	blood:	n/a	n/a
27	BATF	chr12:123707702-123708072	GM12878	blood:	n/a	n/a
28	BATF	chr12:123604384-123604758	GM12878	blood:	n/a	n/a
29	BATF	chr12:123604415-123604682	GM12878	blood:	n/a	n/a
30	BCL3	chr12:123635797-123636581	GM12878	blood:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
31	BCL3	chr12:123626118-123627170	A549	lung:	n/a	n/a
32	BCL3	chr12:123635853-123636704	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
33	BCL3	chr12:123626139-123627079	A549	lung:	n/a	n/a
34	BCL3	chr12:123635804-123636673	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
35	BCL3	chr12:123717029-123718115	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
36	BCL3	chr12:123717059-123718641	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
37	BCLAF1	chr12:123717123-123717822	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
38	BCLAF1	chr12:123707707-123708158	GM12878	blood:	n/a	n/a
39	BCLAF1	chr12:123707708-123708248	GM12878	blood:	n/a	n/a
40	BCLAF1	chr12:123604394-123604768	GM12878	blood:	n/a	n/a
41	BCLAF1	chr12:123716970-123717770	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
42	BCLAF1	chr12:123636108-123636415	GM12878	blood:	n/a	n/a
43	BHLHE40	chr12:123633179-123633276	K562	blood:	n/a	n/a
44	BHLHE40	chr12:123591532-123591757	K562	blood:	n/a	n/a
45	BHLHE40	chr12:123611076-123611582	K562	blood:	n/a	n/a
46	BHLHE40	chr12:123707720-123708034	GM12878	blood:	n/a	n/a
47	BHLHE40	chr12:123717227-123718520	K562	blood:	n/a	chr12:123717626-123717642
48	BHLHE40	chr12:123634019-123634309	K562	blood:	n/a	n/a
49	BHLHE40	chr12:123635332-123635746	K562	blood:	n/a	chr12:123635487-123635503
50	BHLHE40	chr12:123716701-123716744	K562	blood:	n/a	n/a

(count:3238 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123604434-123604484	A549	lung:	n/a
2	chr12:123717888-123717938	IMR90	lung:	fetal
3	chr12:123636480-123636530	Hela-S3	cervix:	n/a
4	chr12:123713553-123713603	H1-hESC	embryonic stem cell:	embryo
5	chr12:123636548-123636598	NT2-D1	testis:	n/a
6	chr12:123604434-123604484	A549	lung:	n/a
7	chr12:123717888-123717938	IMR90	lung:	fetal
8	chr12:123636480-123636530	Hela-S3	cervix:	n/a
9	chr12:123713553-123713603	H1-hESC	embryonic stem cell:	embryo
10	chr12:123636548-123636598	NT2-D1	testis:	n/a
11	chr12:123707827-123707877	SK-N-MC	brain:	n/a
12	chr12:123718047-123718097	HRPEpiC	eye:	n/a
13	chr12:123637556-123637606	HEEpiC	esophagus:	n/a
14	chr12:123717786-123717836	ECC-1	luminal epithelium:	n/a
15	chr12:123717888-123717938	HCM	heart:	n/a
16	chr12:123718243-123718293	HRCEpiC	kidney:	n/a
17	chr12:123595024-123595074	CMK	blood:	n/a
18	chr12:123595024-123595074	GM12892	blood:	n/a
19	chr12:123707825-123707875	HPAEpiC	pulmonary alveolar:	n/a
20	chr12:123634159-123634209	AoSMC	blood vessel:	n/a
21	chr12:123637556-123637606	NHBE	bronchial:	n/a
22	chr12:123626132-123626182	HUVEC	blood vessel:	n/a
23	chr12:123636480-123636530	HNPCEpiC	eye:	n/a
24	chr12:123634159-123634209	CMK	blood:	n/a
25	chr12:123626132-123626182	RPTEC	kidney:	n/a
26	chr12:123707536-123707586	AG04450	lung:	fetal
27	chr12:123599873-123599923	HEK293	kidney:	embryo
28	chr12:123636505-123636555	HCF	heart:	n/a
29	chr12:123595122-123595172	AG09309	skin:	n/a
30	chr12:123634957-123635007	AG04450	lung:	fetal
31	chr12:123616817-123616867	GM12892	blood:	n/a
32	chr12:123717888-123717938	U87	brain:	n/a
33	chr12:123718121-123718171	U87	brain:	n/a
34	chr12:123633728-123633778	HEK293	kidney:	embryo
35	chr12:123718047-123718097	Caco-2	colon:	n/a
36	chr12:123636717-123636767	LNCaP	prostate:	n/a
37	chr12:123587316-123587366	PrEC	prostate:	n/a
38	chr12:123616817-123616867	SKMC	muscle:	n/a
39	chr12:123634159-123634209	HepG2	liver:	n/a
40	chr12:123636548-123636598	NHDF-neo	bronchial:	n/a
41	chr12:123718706-123718756	AoSMC	blood vessel:	n/a
42	chr12:123713553-123713603	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:123632825-123632875	ProgFib	skin:	n/a
44	chr12:123636279-123636329	MCF10A-Er-Src	breast:	n/a
45	chr12:123636717-123636767	AG04450	lung:	fetal
46	chr12:123718243-123718293	HIPEpiC	eye:	n/a
47	chr12:123634957-123635007	AoSMC	blood vessel:	n/a
48	chr12:123717888-123717938	K562	blood:	n/a
49	chr12:123639610-123639660	HRPEpiC	eye:	n/a
50	chr12:123636717-123636767	HCT-116	colon:	n/a

(count:239 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:123610238..123613639-chr12:123613854..123616666,3	K562	blood:
2	chr12:123598890..123601650-chr12:123601866..123605162,4	K562	blood:
3	chr12:123600130..123602126-chr12:123634112..123635880,2	MCF-7	breast:
4	chr11:67168900..67169444-chr12:123717028..123717926,2	Hela-S3	cervix:
5	chr12:123546470..123548882-chr12:123596558..123599374,2	MCF-7	breast:
6	chr12:123517171..123520609-chr12:123634791..123638617,3	K562	blood:
7	chr12:123603321..123605934-chr12:123608527..123611657,3	K562	blood:
8	chr12:123717262..123718122-chr21:18984647..18985519,3	Hela-S3	cervix:
9	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
10	chr12:123526656..123529148-chr12:123634939..123636869,3	MCF-7	breast:
11	chr12:123661780..123663956-chr12:123666220..123668601,2	K562	blood:
12	chr12:123616507..123619286-chr12:123631305..123632986,2	K562	blood:
13	chr12:123603146..123605205-chr12:123632203..123634341,2	MCF-7	breast:
14	chr12:123606578..123609503-chr12:123615590..123618245,2	MCF-7	breast:
15	chr12:123717440..123718026-chr22:43010991..43011779,2	Hela-S3	cervix:
16	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
17	chr12:123717168..123717889-chr4:4861025..4861753,2	HCT-116	colon:
18	chr12:123457894..123461734-chr12:123715409..123718960,7	K562	blood:
19	chr12:123527304..123529634-chr12:123630952..123633326,2	MCF-7	breast:
20	chr12:123602021..123604363-chr12:123605603..123608187,2	K562	blood:
21	chr12:123637836..123642861-chr12:123644495..123649304,6	MCF-7	breast:
22	chr12:123578867..123580732-chr12:123586590..123589378,3	MCF-7	breast:
23	chr12:123625642..123631763-chr12:123633649..123636564,5	MCF-7	breast:
24	chr12:123558968..123563276-chr12:123716606..123719909,6	MCF-7	breast:
25	chr12:123560007..123560783-chr12:123635231..123636092,3	MCF-7	breast:
26	chr12:123717145..123718094-chr2:88315035..88316515,4	Hela-S3	cervix:
27	chr12:123583370..123585384-chr12:123598007..123600028,3	K562	blood:
28	chr12:123623413..123625751-chr12:123625839..123628536,3	K562	blood:
29	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
30	chr12:123589646..123591494-chr12:123593029..123596172,4	K562	blood:
31	chr12:123592814..123595580-chr12:123611489..123613555,2	K562	blood:
32	chr12:123652587..123654212-chr12:123716240..123718680,2	K562	blood:
33	chr12:123697679..123701719-chr12:123715927..123717911,4	K562	blood:
34	chr12:123540726..123542900-chr12:123635050..123636986,3	MCF-7	breast:
35	chr12:123716817..123718990-chr12:124117809..124119418,3	K562	blood:
36	chr12:123702115..123705680-chr12:123713540..123715755,3	MCF-7	breast:
37	chr12:123601284..123602809-chr12:123617657..123619807,2	K562	blood:
38	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
39	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
40	chr12:123547606..123549243-chr12:123635108..123637286,2	MCF-7	breast:
41	chr12:123717061..123717754-chr9:77643240..77643995,2	Hela-S3	cervix:
42	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
43	chr12:123704862..123707251-chr12:123716101..123718102,3	MCF-7	breast:
44	chr12:123635131..123637261-chr12:123715659..123718138,3	K562	blood:
45	chr12:123681413..123683609-chr12:123687965..123690552,2	K562	blood:
46	chr12:123554110..123555021-chr12:123590854..123591747,3	MCF-7	breast:
47	chr12:123623413..123625751-chr12:123625839..123628536,3	K562	blood:
48	chr12:123570325..123572939-chr12:123584835..123587723,2	K562	blood:
49	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
50	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PITPNM2-1	chr12:123717622-123717648	NONHSAT031568
2	lnc-MPHOSPH9-1	chr12:123638929-123638977	NONHSAT031566
3	lnc-MPHOSPH9-1	chr12:123636867-123637172	NONHSAT031566
4	lnc-MPHOSPH9-1	chr12:123640235-123640363	NONHSAT031566
5	lnc-PITPNM2-1	chr12:123714584-123715069	NONHSAT031568
6	lnc-C12orf65-2	chr12:123611829-123612163	NONHSAT031565

No data

(count:8 , 50 per page) page: 1

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

Variant related genes	Relation type
PITPNM2	TF binding region
C12orf65	TF binding region
MPHOSPH9	TF binding region
PITPNM2	CpG island
C12orf65	CpG island
MPHOSPH9	CpG island
ENSG00000051825	chromatin interactions
ENSG00000213977	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000104147	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000269980	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000104872	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000154640	chromatin interactions
ENSG00000073584	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000137804	chromatin interactions
ENSG00000072864	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000255839	chromatin interactions
ENSG00000181788	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000161618	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000085276	chromatin interactions
ENSG00000196123	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000152601	chromatin interactions
ENSG00000156017	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000265603	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000167543	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000163132	chromatin interactions
ENSG00000127774	chromatin interactions

Extended variants
information (count: 4552 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:4552 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73413234	chr12:123586093-123586094	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150696005	chr12:123586128-123586129	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs193025634	chr12:123586160-123586161	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542712142	chr12:123586163-123586164	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555058391	chr12:123586196-123586197	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573726289	chr12:123586289-123586290	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541248420	chr12:123586318-123586319	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139048311	chr12:123586328-123586329	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533095818	chr12:123586425-123586426	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184384946	chr12:123586475-123586476	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562904845	chr12:123586527-123586528	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1790094	chr12:123586688-123586689	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs79769662	chr12:123586782-123586783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35380290	chr12:123586807-123586808	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567385315	chr12:123586827-123586828	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187624244	chr12:123586839-123586840	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547214791	chr12:123586852-123586853	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144000910	chr12:123586920-123586921	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144303712	chr12:123586934-123586935	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146444064	chr12:123587014-123587015	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12318326	chr12:123587055-123587056	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569238103	chr12:123587080-123587081	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542949830	chr12:123587127-123587128	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192400177	chr12:123587139-123587140	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573320039	chr12:123587158-123587159	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149704832	chr12:123587159-123587160	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546423543	chr12:123587201-123587202	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559342509	chr12:123587226-123587227	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184830331	chr12:123587227-123587228	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563265211	chr12:123587235-123587236	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189431395	chr12:123587278-123587279	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145559802	chr12:123587287-123587288	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181073760	chr12:123587414-123587415	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528238664	chr12:123587418-123587419	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571826000	chr12:123587428-123587429	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546379002	chr12:123587594-123587595	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563044436	chr12:123587604-123587605	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576840947	chr12:123587613-123587614	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532766854	chr12:123587636-123587637	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542517983	chr12:123587660-123587661	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555522390	chr12:123587668-123587669	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569598096	chr12:123587695-123587696	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117065261	chr12:123587714-123587715	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189612520	chr12:123587735-123587736	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376062860	chr12:123587772-123587773	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181497465	chr12:123587810-123587811	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367744140	chr12:123587819-123587820	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558643078	chr12:123587845-123587846	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577389428	chr12:123587860-123587861	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148879046	chr12:123587887-123587888	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
head and neck squamous cell carcinoma	24351288	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5855 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
3	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:123567400-123588000	Enhancers	Left Ventricle	heart
5	chr12:123570800-123586600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123571000-123586600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
8	chr12:123574400-123586800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:123576400-123589400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:123576600-123588600	Enhancers	Right Ventricle	heart
11	chr12:123577000-123590400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:123577200-123586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:123577400-123589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123577400-123590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:123579400-123586200	Enhancers	Fetal Brain Female	brain
16	chr12:123579800-123586600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:123579800-123586800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:123579800-123593600	Weak transcription	Fetal Intestine Large	intestine
19	chr12:123579800-123596200	Weak transcription	Osteobl	bone
20	chr12:123580000-123589400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:123580000-123589800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:123580000-123592600	Weak transcription	NHEK	skin
23	chr12:123580000-123593800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:123580200-123586600	Weak transcription	K562	blood
25	chr12:123580200-123587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:123580200-123587800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:123580200-123589600	Weak transcription	Spleen	Spleen
28	chr12:123580200-123589600	Weak transcription	HMEC	breast
29	chr12:123580200-123590200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:123580200-123593200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:123580400-123586600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:123580600-123596000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:123580800-123586000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:123580800-123587000	Weak transcription	Hela-S3	cervix
35	chr12:123581000-123586600	Weak transcription	Primary T cells from cord blood	blood
36	chr12:123581000-123589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:123581000-123590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:123581000-123593000	Weak transcription	Pancreas	Pancrea
39	chr12:123581200-123586200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:123581200-123586600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:123581200-123586600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:123581200-123586800	Weak transcription	A549	lung
43	chr12:123581200-123587600	Weak transcription	Esophagus	oesophagus
44	chr12:123581200-123593000	Weak transcription	Brain Germinal Matrix	brain
45	chr12:123581400-123586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:123581400-123586800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:123581400-123591600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:123581600-123586600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:123582200-123591200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:123582400-123586000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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