Variant report

Variant	esv3341098
Chromosome Location	chr12:1770566-1773039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:597)
CpG islands
(count:427)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:1771132-1771417	HepG2	liver:	n/a	n/a
2	ATF2	chr12:1772108-1772591	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:1772014-1772580	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:1772279-1772604	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:1771061-1771455	A549	lung:	n/a	chr12:1771247-1771260 chr12:1771427-1771440
6	BCLAF1	chr12:1771055-1771451	K562	blood:	n/a	chr12:1771247-1771260 chr12:1771427-1771440
7	BHLHE40	chr12:1771016-1771476	HepG2	liver:	n/a	n/a
8	BHLHE40	chr12:1771069-1771397	A549	lung:	n/a	n/a
9	BHLHE40	chr12:1771081-1771327	HepG2	liver:	n/a	n/a
10	BHLHE40	chr12:1771025-1771426	K562	blood:	n/a	n/a
11	BHLHE40	chr12:1771070-1771322	HepG2	liver:	n/a	n/a
12	BHLHE40	chr12:1771016-1771435	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:1771985-1772566	K562	blood:	n/a	n/a
14	BRCA1	chr12:1771145-1771355	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr12:1771937-1772003	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr12:1771258-1771262	HepG2	liver:	n/a	n/a
17	CBX3	chr12:1772322-1772813	K562	blood:	n/a	n/a
18	CBX3	chr12:1771089-1771435	K562	blood:	n/a	n/a
19	CBX3	chr12:1771902-1772778	K562	blood:	n/a	n/a
20	CCNT2	chr12:1770751-1770870	K562	blood:	n/a	n/a
21	CCNT2	chr12:1771937-1772380	K562	blood:	n/a	n/a
22	CCNT2	chr12:1771075-1771383	K562	blood:	n/a	n/a
23	CEBPB	chr12:1771094-1771378	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:1772050-1772524	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPD	chr12:1770714-1771046	HepG2	liver:	n/a	n/a
26	CEBPD	chr12:1771084-1771492	K562	blood:	n/a	n/a
27	CEBPD	chr12:1771097-1771466	HepG2	liver:	n/a	n/a
28	CHD1	chr12:1770901-1771508	IMR90	lung:	n/a	n/a
29	CHD2	chr12:1771865-1772583	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr12:1771930-1772402	K562	blood:	n/a	n/a
31	CHD2	chr12:1771086-1771415	GM12878	blood:	n/a	n/a
32	CHD2	chr12:1770850-1771482	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr12:1771103-1771434	K562	blood:	n/a	n/a
34	CHD2	chr12:1771081-1771432	HepG2	liver:	n/a	n/a
35	CREB1	chr12:1771058-1771509	K562	blood:	n/a	n/a
36	CREB1	chr12:1772288-1772665	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr12:1771075-1771468	A549	lung:	n/a	n/a
38	CTBP2	chr12:1771902-1772782	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:1772363-1772523	Kidney_OC	kidney:	n/a	chr12:1772410-1772426
40	CTCF	chr12:1772359-1772489	HUVEC	blood vessel:	n/a	chr12:1772410-1772426
41	CTCF	chr12:1772380-1772530	BJ	skin:	n/a	chr12:1772410-1772426
42	CTCF	chr12:1772340-1772490	HPF	lung:	n/a	chr12:1772410-1772426
43	CTCF	chr12:1772364-1772507	Spleen_OC	spleen:	n/a	chr12:1772410-1772426
44	CTCF	chr12:1772420-1772570	NHEK	skin:	n/a	chr12:1772553-1772562
45	CTCF	chr12:1772380-1772530	HAc	cerebellar:	n/a	chr12:1772410-1772426
46	CTCF	chr12:1772300-1772450	HVMF	connective:	n/a	chr12:1772410-1772426
47	CTCF	chr12:1772360-1772510	AoAF	blood vessel:	n/a	chr12:1772410-1772426
48	CTCF	chr12:1772360-1772510	HVMF	connective:	n/a	chr12:1772410-1772426
49	CTCF	chr12:1772276-1772571	A549	lung:	n/a	chr12:1772410-1772426 chr12:1772553-1772562 chr12:1772286-1772299
50	CTCF	chr12:1772340-1772490	NHLF	lung:	n/a	chr12:1772410-1772426

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1772230-1772280	AG04449	skin:	fetal
2	chr12:1772230-1772280	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:1772323-1772373	CMK	blood:	n/a
4	chr12:1771358-1771408	GM19239	blood:	n/a
5	chr12:1770782-1770832	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:1771358-1771408	LNCaP	prostate:	n/a
7	chr12:1772230-1772280	SAEC	small airway:	n/a
8	chr12:1772230-1772280	RPTEC	kidney:	n/a
9	chr12:1772323-1772373	A549	lung:	n/a
10	chr12:1770782-1770832	GM12891	blood:	n/a
11	chr12:1770782-1770832	Caco-2	colon:	n/a
12	chr12:1770782-1770832	HCT-116	colon:	n/a
13	chr12:1771122-1771172	K562	blood:	n/a
14	chr12:1771122-1771172	HEEpiC	esophagus:	n/a
15	chr12:1771358-1771408	NH-A	brain:	n/a
16	chr12:1772504-1772554	PrEC	prostate:	n/a
17	chr12:1771122-1771172	HCT-116	colon:	n/a
18	chr12:1772504-1772554	HNPCEpiC	eye:	n/a
19	chr12:1770715-1770765	MCF-7	breast:	n/a
20	chr12:1770715-1770765	HCT-116	colon:	n/a
21	chr12:1771122-1771172	HRPEpiC	eye:	n/a
22	chr12:1770782-1770832	IMR90	lung:	fetal
23	chr12:1771122-1771172	AG10803	skin:	n/a
24	chr12:1771358-1771408	BJ	skin:	n/a
25	chr12:1772230-1772280	A549	lung:	n/a
26	chr12:1772323-1772373	HAEpiC	amniotic membrane:	n/a
27	chr12:1771122-1771172	U87	brain:	n/a
28	chr12:1771358-1771408	GM12891	blood:	n/a
29	chr12:1772323-1772373	NHDF-neo	bronchial:	n/a
30	chr12:1772323-1772373	HIPEpiC	eye:	n/a
31	chr12:1771358-1771408	HMEC	breast:	n/a
32	chr12:1770715-1770765	HAEpiC	amniotic membrane:	n/a
33	chr12:1772323-1772373	GM06990	blood:	n/a
34	chr12:1771122-1771172	ECC-1	luminal epithelium:	n/a
35	chr12:1772230-1772280	AG10803	skin:	n/a
36	chr12:1770782-1770832	Hepatocyte	liver:	n/a
37	chr12:1771358-1771408	HEEpiC	esophagus:	n/a
38	chr12:1771122-1771172	BE2_C	brain:	n/a
39	chr12:1770782-1770832	SK-N-SH	brain:	n/a
40	chr12:1772504-1772554	HUVEC	blood vessel:	n/a
41	chr12:1770715-1770765	ECC-1	luminal epithelium:	n/a
42	chr12:1772504-1772554	PFSK-1	brain:	n/a
43	chr12:1770782-1770832	HRPEpiC	eye:	n/a
44	chr12:1770782-1770832	LNCaP	prostate:	n/a
45	chr12:1772230-1772280	PANC-1	pancreas:	n/a
46	chr12:1771358-1771408	HAEpiC	amniotic membrane:	n/a
47	chr12:1772230-1772280	ECC-1	luminal epithelium:	n/a
48	chr12:1772504-1772554	T-47D	breast:	n/a
49	chr12:1772323-1772373	HUVEC	blood vessel:	n/a
50	chr12:1770782-1770832	ECC-1	luminal epithelium:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1771041..1773403-chr12:1779231..1780739,2	MCF-7	breast:
2	chr12:1772246..1773869-chr12:1801718..1803350,2	MCF-7	breast:
3	chr12:1769759..1773174-chr12:1808605..1811319,4	K562	blood:
4	chr12:1770828..1772628-chr12:1803369..1805414,2	MCF-7	breast:
5	chr12:1771225..1773425-chr12:1825793..1828213,2	K562	blood:
6	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
7	chr12:1768367..1774746-chr12:1797764..1801789,11	MCF-7	breast:
8	chr12:1751543..1753813-chr12:1771357..1773090,2	K562	blood:
9	chr12:1769387..1773191-chr12:1797591..1801415,7	K562	blood:
10	chr12:1727058..1729024-chr12:1769642..1771498,2	K562	blood:
11	chr12:1771124..1772646-chr12:1920146..1921808,2	K562	blood:
12	chr12:1769575..1772464-chr12:1879364..1881156,2	MCF-7	breast:
13	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:
14	chr12:1769374..1771394-chr12:1903241..1905339,2	K562	blood:
15	chr12:1770660..1771376-chrX:135962365..135962942,2	Hela-S3	cervix:
16	chr12:1769818..1772528-chr12:1789216..1791447,2	MCF-7	breast:
17	chr12:1770974..1771618-chr12:1800144..1801000,2	Hela-S3	cervix:
18	chr12:1769414..1772325-chr12:1772901..1775575,3	MCF-7	breast:
19	chr11:61735698..61736575-chr12:1770400..1771018,2	Hela-S3	cervix:
20	chr12:1770841..1772886-chr12:1868633..1870687,2	K562	blood:
21	chr12:1771146..1773921-chr12:1806258..1810268,3	K562	blood:
22	chr12:1770836..1772849-chr12:1788601..1790387,2	K562	blood:
23	chr12:1769849..1773599-chr12:1775643..1780093,7	K562	blood:
24	chr12:1770877..1772599-chr12:1920611..1922756,2	K562	blood:
25	chr12:1769631..1770598-chr12:130611123..130611927,2	Hela-S3	cervix:
26	chr12:1770854..1772922-chr12:1803554..1806296,3	MCF-7	breast:
27	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
28	chr12:1772017..1774771-chr12:1791247..1793999,2	K562	blood:
29	chr12:1770529..1774414-chr12:1775801..1779567,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL14-2	chr12:1772384-1772555	XLOC_009974

No data

Variant related genes	Relation type
MIR3649	TF binding region
MIR3649	CpG island
ENSG00000006831	chromatin interactions
ENSG00000266043	chromatin interactions
ENSG00000151062	chromatin interactions
ENSG00000271500	chromatin interactions
ENSG00000147274	chromatin interactions
GRAMD3	miRNA target sites

Extended variants
information (count: 85 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544269180	chr12:1770754-1770755	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs184134059	chr12:1770793-1770794	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs577960416	chr12:1770806-1770807	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs188881131	chr12:1770820-1770821	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs564138127	chr12:1770839-1770840	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs560031759	chr12:1770896-1770897	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs527461948	chr12:1770932-1770933	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs548800508	chr12:1770970-1770971	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs560811967	chr12:1771023-1771024	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs531481484	chr12:1771034-1771035	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs549616613	chr12:1771035-1771036	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs377053720	chr12:1771075-1771076	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs571183711	chr12:1771140-1771141	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs538657268	chr12:1771141-1771142	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs552076938	chr12:1771148-1771149	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs567196393	chr12:1771149-1771150	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs371488180	chr12:1771193-1771194	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs114059839	chr12:1771204-1771205	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs556035039	chr12:1771226-1771227	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs574045464	chr12:1771227-1771228	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs112725338	chr12:1771228-1771229	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs76291648	chr12:1771259-1771260	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs146327096	chr12:1771338-1771339	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs577934439	chr12:1771394-1771395	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs545022821	chr12:1771435-1771436	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs560000249	chr12:1771455-1771456	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs117515152	chr12:1771464-1771465	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs201728067	chr12:1771473-1771474	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs542412069	chr12:1771492-1771493	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs561091394	chr12:1771495-1771496	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs531417930	chr12:1771599-1771600	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs549815906	chr12:1771602-1771603	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs564855202	chr12:1771678-1771679	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113765472	chr12:1771712-1771713	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs181634196	chr12:1771775-1771776	Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs187259710	chr12:1771844-1771845	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs190447786	chr12:1771865-1771866	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs375286128	chr12:1771886-1771887	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs547447663	chr12:1771915-1771916	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs567159299	chr12:1771959-1771960	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs180714550	chr12:1771967-1771968	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs377112020	chr12:1771977-1771978	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs549412881	chr12:1771981-1771982	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs567805914	chr12:1771983-1771984	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs538070538	chr12:1771996-1771997	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs551471504	chr12:1772012-1772013	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs571684756	chr12:1772019-1772020	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs538638035	chr12:1772025-1772026	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs553798162	chr12:1772076-1772077	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs117869811	chr12:1772084-1772085	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
2	chr12:1758000-1770800	Weak transcription	HSMMtube	muscle
3	chr12:1758400-1770600	Weak transcription	NH-A	brain
4	chr12:1759800-1770600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:1760200-1770600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:1760800-1770800	Weak transcription	HSMM	muscle
7	chr12:1761400-1770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:1761600-1770800	Weak transcription	NHLF	lung
9	chr12:1764400-1770600	Weak transcription	Osteobl	bone
10	chr12:1764800-1770800	Weak transcription	NHDF-Ad	bronchial
11	chr12:1767800-1770600	Enhancers	Fetal Intestine Large	intestine
12	chr12:1768600-1770600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:1768600-1770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:1768800-1770600	Enhancers	Pancreas	Pancrea
15	chr12:1768800-1770800	Enhancers	Stomach Mucosa	stomach
16	chr12:1769000-1770600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:1769000-1770600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:1769000-1770600	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:1769000-1770600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:1769000-1770600	Enhancers	HMEC	breast
21	chr12:1769000-1770800	Enhancers	HUVEC	blood vessel
22	chr12:1769000-1771000	Enhancers	K562	blood
23	chr12:1769000-1771400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:1769200-1770600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:1769200-1770600	Weak transcription	Psoas Muscle	Psoas
26	chr12:1769200-1770600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:1769200-1770600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:1769200-1770600	Weak transcription	Right Ventricle	heart
29	chr12:1769200-1771400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:1769400-1770600	Enhancers	Fetal Thymus	thymus
31	chr12:1769400-1770600	Enhancers	A549	lung
32	chr12:1769400-1770800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:1769400-1771200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:1769600-1770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:1769600-1770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:1769600-1770600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:1769600-1770600	Weak transcription	Esophagus	oesophagus
38	chr12:1769600-1770600	Weak transcription	Placenta	Placenta
39	chr12:1769600-1770800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:1769600-1771400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:1769600-1772400	Enhancers	Fetal Brain Male	brain
42	chr12:1769800-1770600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:1769800-1770600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr12:1769800-1770600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:1769800-1770600	Weak transcription	Left Ventricle	heart
46	chr12:1769800-1770600	Weak transcription	Ovary	ovary
47	chr12:1769800-1770600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr12:1769800-1770800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:1769800-1771000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:1769800-1771000	Enhancers	Primary B cells from cord blood	blood

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