Variant report

Variant	esv2758295
Chromosome Location	chr12:12620654-12783124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4047)
CpG islands
(count:2319)
Chromatin interactive
region (count:230)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4047 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:12641948-12642711	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:12628164-12628206	K562	blood:	n/a	n/a
3	ARID3A	chr12:12764548-12764894	K562	blood:	n/a	n/a
4	ARID3A	chr12:12695914-12696134	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:12715585-12716186	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:12699109-12699853	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:12715272-12715278	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:12639720-12640173	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:12764502-12764936	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:12735819-12736188	HepG2	liver:	n/a	n/a
11	ARID3A	chr12:12704833-12705161	HepG2	liver:	n/a	n/a
12	ARID3A	chr12:12765340-12765649	HepG2	liver:	n/a	n/a
13	ARID3A	chr12:12713874-12714485	HepG2	liver:	n/a	n/a
14	ARID3A	chr12:12714109-12714510	K562	blood:	n/a	n/a
15	ARID3A	chr12:12753794-12753902	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:12716488-12716789	HepG2	liver:	n/a	n/a
17	ATF1	chr12:12715415-12715753	K562	blood:	n/a	n/a
18	ATF1	chr12:12764600-12764994	K562	blood:	n/a	n/a
19	ATF1	chr12:12658858-12659182	K562	blood:	n/a	n/a
20	ATF2	chr12:12658632-12659411	GM12878	blood:	n/a	n/a
21	ATF2	chr12:12764325-12765358	GM12878	blood:	n/a	n/a
22	ATF2	chr12:12715111-12716047	GM12878	blood:	n/a	n/a
23	ATF2	chr12:12627710-12628665	GM12878	blood:	n/a	n/a
24	ATF2	chr12:12735104-12736755	GM12878	blood:	n/a	n/a
25	ATF2	chr12:12713568-12714496	GM12878	blood:	n/a	n/a
26	ATF2	chr12:12715347-12715999	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr12:12715421-12715959	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr12:12703988-12704645	GM12878	blood:	n/a	n/a
29	ATF2	chr12:12764443-12764952	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr12:12713602-12714509	GM12878	blood:	n/a	n/a
31	ATF2	chr12:12734824-12736803	GM12878	blood:	n/a	n/a
32	ATF2	chr12:12639522-12640025	GM12878	blood:	n/a	n/a
33	ATF2	chr12:12764317-12765026	GM12878	blood:	n/a	n/a
34	ATF2	chr12:12759686-12760700	GM12878	blood:	n/a	n/a
35	ATF2	chr12:12658677-12659341	GM12878	blood:	n/a	n/a
36	ATF2	chr12:12627512-12628733	GM12878	blood:	n/a	n/a
37	ATF2	chr12:12716905-12717353	GM12878	blood:	n/a	n/a
38	ATF2	chr12:12656704-12657062	GM12878	blood:	n/a	n/a
39	ATF2	chr12:12764487-12764929	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr12:12715350-12716327	GM12878	blood:	n/a	n/a
41	ATF2	chr12:12639416-12640210	GM12878	blood:	n/a	n/a
42	ATF2	chr12:12759553-12760652	GM12878	blood:	n/a	n/a
43	ATF3	chr12:12715391-12715772	K562	blood:	n/a	n/a
44	ATF3	chr12:12764552-12764949	A549	lung:	n/a	n/a
45	ATF3	chr12:12735605-12736319	A549	lung:	n/a	chr12:12736007-12736027
46	ATF3	chr12:12764430-12765007	A549	lung:	n/a	n/a
47	BACH1	chr12:12715606-12716184	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr12:12714580-12714743	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr12:12660334-12660418	H1-hESC	embryonic stem cell:	n/a	n/a
50	BATF	chr12:12658813-12659139	GM12878	blood:	n/a	n/a

(count:2319 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12764917-12764967	HCT-116	colon:	n/a
2	chr12:12764917-12764967	HCT-116	colon:	n/a
3	chr12:12715438-12715488	SK-N-MC	brain:	n/a
4	chr12:12659177-12659227	A549	lung:	n/a
5	chr12:12764792-12764842	HRCEpiC	kidney:	n/a
6	chr12:12715811-12715861	AG09319	gingival:	n/a
7	chr12:12753718-12753768	U87	brain:	n/a
8	chr12:12764594-12764644	GM12892	blood:	n/a
9	chr12:12714809-12714859	AG09319	gingival:	n/a
10	chr12:12764798-12764848	AG04449	skin:	fetal
11	chr12:12765398-12765448	HRPEpiC	eye:	n/a
12	chr12:12764498-12764548	AG04450	lung:	fetal
13	chr12:12764752-12764802	SK-N-SH_RA	brain:	n/a
14	chr12:12764792-12764842	HUVEC	blood vessel:	n/a
15	chr12:12764798-12764848	BJ	skin:	n/a
16	chr12:12710735-12710785	HUVEC	blood vessel:	n/a
17	chr12:12753718-12753768	HRE	kidney:	n/a
18	chr12:12764752-12764802	NB4	blood:	n/a
19	chr12:12673150-12673200	SKMC	muscle:	n/a
20	chr12:12764594-12764644	GM19239	blood:	n/a
21	chr12:12659177-12659227	HEEpiC	esophagus:	n/a
22	chr12:12717804-12717854	MCF-7	breast:	n/a
23	chr12:12664457-12664507	AG09309	skin:	n/a
24	chr12:12673025-12673075	AoSMC	blood vessel:	n/a
25	chr12:12764917-12764967	HCPEpiC	choroid plexus:	n/a
26	chr12:12715028-12715078	NHBE	bronchial:	n/a
27	chr12:12715636-12715686	GM12891	blood:	n/a
28	chr12:12715811-12715861	GM19239	blood:	n/a
29	chr12:12625652-12625702	MCF-7	breast:	n/a
30	chr12:12753718-12753768	HIPEpiC	eye:	n/a
31	chr12:12715636-12715686	HNPCEpiC	eye:	n/a
32	chr12:12715060-12715110	HMEC	breast:	n/a
33	chr12:12764894-12764944	HCM	heart:	n/a
34	chr12:12765149-12765199	HRPEpiC	eye:	n/a
35	chr12:12764894-12764944	K562	blood:	n/a
36	chr12:12764752-12764802	AoSMC	blood vessel:	n/a
37	chr12:12620789-12620839	SKMC	muscle:	n/a
38	chr12:12686957-12687007	SK-N-MC	brain:	n/a
39	chr12:12714548-12714598	SAEC	small airway:	n/a
40	chr12:12764752-12764802	HIPEpiC	eye:	n/a
41	chr12:12625652-12625702	Hepatocyte	liver:	n/a
42	chr12:12765398-12765448	HEK293	kidney:	embryo
43	chr12:12715636-12715686	HCT-116	colon:	n/a
44	chr12:12764594-12764644	AG04449	skin:	fetal
45	chr12:12653502-12653552	SK-N-MC	brain:	n/a
46	chr12:12659177-12659227	GM06990	blood:	n/a
47	chr12:12625652-12625702	HMEC	breast:	n/a
48	chr12:12673025-12673075	ECC-1	luminal epithelium:	n/a
49	chr12:12620789-12620839	MCF10A-Er-Src	breast:	n/a
50	chr12:12715558-12715608	IMR90	lung:	fetal

(count:230 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:12585154..12587751-chr12:12741127..12742716,2	MCF-7	breast:
2	chr12:12651288..12653412-chr12:12663902..12666446,2	MCF-7	breast:
3	chr12:12715374..12716942-chr12:12773209..12776027,2	MCF-7	breast:
4	chr12:12713736..12716645-chr12:14925588..14929665,3	MCF-7	breast:
5	chr12:12549500..12552302-chr12:12715831..12718057,2	MCF-7	breast:
6	chr12:12714676..12717061-chr12:12726477..12728331,2	K562	blood:
7	chr12:12713858..12718896-chr12:12719623..12723320,7	MCF-7	breast:
8	chr12:12709473..12718126-chr12:12726197..12747296,46	MCF-7	breast:
9	chr12:12645901..12648123-chr12:12648969..12651125,3	MCF-7	breast:
10	chr12:12705696..12707891-chr12:12708023..12709749,2	K562	blood:
11	chr12:12508146..12510627-chr12:12772641..12774666,2	MCF-7	breast:
12	chr12:12580312..12582996-chr12:12648127..12650612,2	MCF-7	breast:
13	chr12:12727279..12730507-chr12:12875210..12878396,3	MCF-7	breast:
14	chr12:12645183..12647034-chr12:12654341..12656540,2	MCF-7	breast:
15	chr12:12709465..12712162-chr12:122232078..122235026,2	MCF-7	breast:
16	chr12:12713899..12715883-chr12:12875674..12879074,4	MCF-7	breast:
17	chr12:12715613..12717543-chr12:12816506..12818729,2	K562	blood:
18	chr12:12744917..12746573-chr12:12750505..12754358,3	MCF-7	breast:
19	chr12:12713075..12717194-chr12:12718362..12721939,6	K562	blood:
20	chr12:12676154..12677988-chr12:12685954..12688802,2	MCF-7	breast:
21	chr12:12551031..12553032-chr12:12674320..12676066,2	MCF-7	breast:
22	chr12:12662519..12664795-chr12:12714606..12716959,2	K562	blood:
23	chr12:12675003..12677370-chr12:12678643..12681429,2	K562	blood:
24	chr12:12744736..12747681-chr12:12750411..12753180,3	MCF-7	breast:
25	chr12:12652555..12654241-chr12:12737918..12739812,2	MCF-7	breast:
26	chr12:12710657..12713156-chr12:12750548..12752486,2	K562	blood:
27	chr12:12728044..12731129-chr12:12733897..12737598,8	MCF-7	breast:
28	chr12:12636838..12639616-chr12:12764732..12766370,2	K562	blood:
29	chr12:12760380..12762137-chr12:12772239..12773895,2	MCF-7	breast:
30	chr12:12736868..12738466-chr12:12739893..12742399,2	K562	blood:
31	chr12:12713908..12715648-chr12:12735562..12738077,2	K562	blood:
32	chr12:12712910..12717920-chr12:12867983..12871802,5	K562	blood:
33	chr12:12593955..12596511-chr12:12738215..12739887,2	MCF-7	breast:
34	chr12:12713685..12716948-chr12:12760123..12768151,9	K562	blood:
35	chr12:12618969..12622557-chr12:12713241..12717041,4	MCF-7	breast:
36	chr12:12625312..12627407-chr12:12628734..12630245,2	MCF-7	breast:
37	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
38	chr12:12713158..12714941-chr12:12777528..12779112,2	MCF-7	breast:
39	chr12:12736868..12738466-chr12:12739893..12742399,2	K562	blood:
40	chr12:12551116..12551741-chr12:12656082..12656861,2	MCF-7	breast:
41	chr12:12713754..12717293-chr12:12755490..12758087,3	MCF-7	breast:
42	chr12:12713630..12716097-chr12:12752808..12754417,2	MCF-7	breast:
43	chr12:12713878..12715518-chr12:14922092..14923933,2	MCF-7	breast:
44	chr12:12652584..12654636-chr12:12656031..12658126,2	K562	blood:
45	chr12:12510495..12512125-chr12:12760276..12763273,2	MCF-7	breast:
46	chr12:12652555..12654241-chr12:12737918..12739812,2	MCF-7	breast:
47	chr12:12743409..12746479-chr12:12763535..12766841,3	MCF-7	breast:
48	chr12:12735935..12740128-chr12:12742070..12744843,3	MCF-7	breast:
49	chr12:12659166..12661033-chr12:12690816..12693581,2	MCF-7	breast:
50	chr12:12652832..12655883-chr12:12662875..12665481,3	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LOH12CR1-2	chr12:12644170-12644515	ENSG00000255670
2	lnc-LOH12CR1-2	chr12:12638287-12638352	ENSG00000255670
3	lnc-GPR19-2	chr12:12768373-12768433	NONHSAT026988
4	lnc-DUSP16-2	chr12:12721135-12721710	NONHSAT026986
5	lnc-CREBL2-3	chr12:12740495-12740565	l_613_chr12:12740494-12744279_testes
6	lnc-GPR19-3	chr12:12674261-12674397	NONHSAT026985
7	lnc-CREBL2-3	chr12:12744201-12744279	l_613_chr12:12740494-12744279_testes
8	lnc-LOH12CR1-3	chr12:12626618-12628831	NONHSAT026972
9	lnc-GPR19-2	chr12:12768716-12768841	NONHSAT026988
10	lnc-DUSP16-1	chr12:12627157-12629731	NONHSAT026975
11	lnc-GPR19-3	chr12:12713700-12713820	NONHSAT026985
12	lnc-CREBL2-3	chr12:12740590-12742098	l_613_chr12:12740494-12744279_testes
13	lnc-LOH12CR1-4	chr12:12632120-12632530	NONHSAT026982
14	lnc-GPR19-2	chr12:12767293-12767410	NONHSAT026988
15	lnc-GPR19-2	chr12:12767707-12767797	NONHSAT026988

No data

Variant related genes	Relation type
CREBL2	TF binding region
ENSG00000240424	TF binding region
ENSG00000255670	TF binding region
DUSP16	TF binding region
ENSG00000271215	TF binding region
CREBL2	CpG island
ENSG00000240424	CpG island
ENSG00000255670	CpG island
DUSP16	CpG island
ENSG00000271215	CpG island
ENSG00000196542	chromatin interactions
ENSG00000197837	chromatin interactions
ENSG00000156802	chromatin interactions
ENSG00000111269	chromatin interactions
ENSG00000111276	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000013588	chromatin interactions
ENSG00000271370	chromatin interactions
ENSG00000256658	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000246705	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000242802	chromatin interactions
ENSG00000070018	chromatin interactions
ENSG00000271215	chromatin interactions
ENSG00000111261	chromatin interactions
ENSG00000255670	chromatin interactions
ENSG00000111266	chromatin interactions
ENSG00000240424	chromatin interactions
ENSG00000141551	chromatin interactions
ENSG00000183150	chromatin interactions
ENSG00000178878	chromatin interactions
PPM1D	miRNA target sites
KRAS	miRNA target sites

Extended variants
information (count: 6462 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:6462 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80124294	chr12:12620684-12620685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs888202	chr12:12620746-12620747	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147183294	chr12:12620748-12620749	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533658564	chr12:12620790-12620791	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558103421	chr12:12620795-12620796	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576790705	chr12:12620796-12620797	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544478649	chr12:12620817-12620818	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556225259	chr12:12620823-12620824	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368057281	chr12:12620845-12620846	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574571548	chr12:12620852-12620853	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541995385	chr12:12620897-12620898	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138599383	chr12:12620900-12620901	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs527749546	chr12:12620918-12620919	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78969411	chr12:12620964-12620965	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564491944	chr12:12620965-12620966	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531651846	chr12:12621020-12621021	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs77973771	chr12:12621051-12621052	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs115051342	chr12:12621052-12621053	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs529600884	chr12:12621071-12621072	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200674176	chr12:12621077-12621078	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs144025250	chr12:12621080-12621081	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs189621288	chr12:12621082-12621083	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs565956872	chr12:12621086-12621087	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs144643029	chr12:12621090-12621091	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs148400308	chr12:12621107-12621108	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs4763288	chr12:12621111-12621112	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144013193	chr12:12621113-12621114	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs370291971	chr12:12621125-12621126	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs4763289	chr12:12621154-12621155	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531519063	chr12:12621160-12621161	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs574602496	chr12:12621185-12621186	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs535761680	chr12:12621206-12621207	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs553979265	chr12:12621319-12621320	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs145940341	chr12:12621326-12621327	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs180873569	chr12:12621431-12621432	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs139848017	chr12:12621440-12621441	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs564472131	chr12:12621444-12621445	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs143293410	chr12:12621445-12621446	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs543411367	chr12:12621467-12621468	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs377442386	chr12:12621506-12621507	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs542173194	chr12:12621507-12621508	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs186201627	chr12:12621539-12621540	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs17312055	chr12:12621567-12621568	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs58809132	chr12:12621585-12621586	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559502779	chr12:12621633-12621634	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs533387919	chr12:12621649-12621650	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368383191	chr12:12621653-12621654	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs552245834	chr12:12621732-12621733	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs370120837	chr12:12621758-12621759	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs146840460	chr12:12621815-12621816	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD

Chromatin state (count:5447 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
5	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
6	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:12609000-12623400	Weak transcription	A549	lung
9	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:12609800-12628400	Weak transcription	NHLF	lung
11	chr12:12610800-12622000	Weak transcription	NHEK	skin
12	chr12:12610800-12623000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:12610800-12623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
15	chr12:12611000-12621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:12611000-12627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:12611000-12628600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:12611200-12622000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:12611200-12627400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:12611200-12629000	Weak transcription	Hela-S3	cervix
21	chr12:12613200-12620800	Weak transcription	Brain Germinal Matrix	brain
22	chr12:12613400-12625200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:12613400-12627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:12614600-12622800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:12614600-12627400	Weak transcription	Spleen	Spleen
26	chr12:12614800-12622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:12615400-12626600	Weak transcription	GM12878-XiMat	blood
28	chr12:12616400-12622800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:12616400-12627400	Weak transcription	HepG2	liver
30	chr12:12616400-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:12616600-12624600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:12616800-12621600	Strong transcription	Fetal Stomach	stomach
33	chr12:12617000-12628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:12617400-12622400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:12617400-12623400	Strong transcription	Fetal Intestine Small	intestine
36	chr12:12617800-12622600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:12618000-12621600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:12618000-12622000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:12618200-12621000	Strong transcription	Dnd41	blood
40	chr12:12618200-12621400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:12618200-12621400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:12618200-12621800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:12618200-12622600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:12618200-12623600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:12618400-12621200	Strong transcription	Esophagus	oesophagus
46	chr12:12618400-12621600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:12618400-12626800	Weak transcription	K562	blood
48	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
49	chr12:12618600-12621600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:12618600-12621800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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