Variant report

Variant	esv997355
Chromosome Location	chr7:48128431-48138826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:771)
CpG islands
(count:857)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:48128079-48129122	HepG2	liver:	n/a	n/a
2	ATF2	chr7:48127974-48129022	GM12878	blood:	n/a	n/a
3	ATF2	chr7:48128684-48129119	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr7:48128314-48128666	GM12878	blood:	n/a	n/a
5	ATF3	chr7:48128049-48128677	A549	lung:	n/a	n/a
6	ATF3	chr7:48128869-48129173	H1-hESC	embryonic stem cell:	n/a	chr7:48129106-48129120
7	ATF3	chr7:48128071-48128628	A549	lung:	n/a	n/a
8	ATF3	chr7:48128889-48129276	H1-hESC	embryonic stem cell:	n/a	chr7:48129106-48129120
9	BACH1	chr7:48129764-48130077	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:48128158-48129315	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr7:48128473-48128721	GM12878	blood:	n/a	chr7:48128494-48128503
12	BCL3	chr7:48127904-48129031	A549	lung:	n/a	chr7:48128399-48128412 chr7:48128192-48128201 chr7:48127986-48127999 chr7:48128494-48128503 chr7:48128399-48128412
13	BCL3	chr7:48127832-48128963	A549	lung:	n/a	chr7:48128399-48128412 chr7:48128192-48128201 chr7:48127986-48127999 chr7:48128494-48128503 chr7:48128399-48128412
14	BCLAF1	chr7:48128282-48128709	GM12878	blood:	n/a	chr7:48128399-48128412 chr7:48128494-48128503 chr7:48128399-48128412
15	BCLAF1	chr7:48128730-48129067	GM12878	blood:	n/a	chr7:48129023-48129036
16	BHLHE40	chr7:48129883-48130120	K562	blood:	n/a	n/a
17	BHLHE40	chr7:48127650-48129267	GM12878	blood:	n/a	chr7:48128098-48128114
18	BHLHE40	chr7:48128007-48129211	K562	blood:	n/a	chr7:48128098-48128114
19	BHLHE40	chr7:48132034-48132352	K562	blood:	n/a	n/a
20	BHLHE40	chr7:48127979-48129153	HepG2	liver:	n/a	chr7:48128098-48128114
21	BRCA1	chr7:48128784-48128962	HepG2	liver:	n/a	n/a
22	BRCA1	chr7:48128865-48129027	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr7:48127936-48128950	Hela-S3	cervix:	n/a	n/a
24	CCNT2	chr7:48127995-48130013	K562	blood:	n/a	chr7:48129464-48129484
25	CEBPB	chr7:48128431-48128828	A549	lung:	n/a	n/a
26	CEBPB	chr7:48128468-48128748	HepG2	liver:	n/a	n/a
27	CEBPB	chr7:48131800-48132418	HCT-116	colon:	n/a	n/a
28	CEBPB	chr7:48128248-48129052	HepG2	liver:	n/a	n/a
29	CEBPB	chr7:48128110-48129258	HepG2	liver:	n/a	n/a
30	CEBPB	chr7:48132046-48132418	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr7:48132007-48132404	MCF-7	breast:	n/a	n/a
32	CEBPB	chr7:48127958-48128891	A549	lung:	n/a	n/a
33	CEBPB	chr7:48128337-48129028	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr7:48127941-48129056	IMR90	lung:	n/a	n/a
35	CEBPB	chr7:48128276-48128772	K562	blood:	n/a	n/a
36	CEBPB	chr7:48132100-48132400	IMR90	lung:	n/a	n/a
37	CEBPB	chr7:48132081-48132442	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr7:48128391-48129102	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr7:48132086-48132338	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr7:48128086-48128953	A549	lung:	n/a	n/a
41	CEBPB	chr7:48128306-48128840	MCF-7	breast:	n/a	n/a
42	CEBPB	chr7:48128437-48128667	K562	blood:	n/a	n/a
43	CEBPB	chr7:48131879-48132411	HCT-116	colon:	n/a	n/a
44	CEBPB	chr7:48134392-48135364	IMR90	lung:	n/a	n/a
45	CEBPB	chr7:48128459-48128677	HepG2	liver:	n/a	n/a
46	CEBPB	chr7:48127757-48129284	Hela-S3	cervix:	n/a	n/a
47	CEBPD	chr7:48128339-48128965	HepG2	liver:	n/a	n/a
48	CHD1	chr7:48130045-48130576	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr7:48129497-48129792	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr7:48127871-48132343	IMR90	lung:	n/a	chr7:48129431-48129441 chr7:48129033-48129043

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:48129797-48129847	HRCEpiC	kidney:	n/a
2	chr7:48128611-48128661	Hepatocyte	liver:	n/a
3	chr7:48129814-48129864	AG10803	skin:	n/a
4	chr7:48129797-48129847	HRCEpiC	kidney:	n/a
5	chr7:48128611-48128661	Hepatocyte	liver:	n/a
6	chr7:48129814-48129864	AG10803	skin:	n/a
7	chr7:48129822-48129872	BJ	skin:	n/a
8	chr7:48129797-48129847	GM12878	blood:	n/a
9	chr7:48128611-48128661	BE2_C	brain:	n/a
10	chr7:48132109-48132159	GM19239	blood:	n/a
11	chr7:48128624-48128674	AG04450	lung:	fetal
12	chr7:48129992-48130042	SK-N-SH_RA	brain:	n/a
13	chr7:48129822-48129872	PrEC	prostate:	n/a
14	chr7:48129822-48129872	HCM	heart:	n/a
15	chr7:48129797-48129847	SK-N-MC	brain:	n/a
16	chr7:48128452-48128502	SK-N-SH	brain:	n/a
17	chr7:48129444-48129494	HepG2	liver:	n/a
18	chr7:48128821-48128871	HUVEC	blood vessel:	n/a
19	chr7:48131586-48131636	AG10803	skin:	n/a
20	chr7:48129992-48130042	A549	lung:	n/a
21	chr7:48130197-48130247	HEEpiC	esophagus:	n/a
22	chr7:48129992-48130042	ProgFib	skin:	n/a
23	chr7:48129992-48130042	NT2-D1	testis:	n/a
24	chr7:48132109-48132159	HRPEpiC	eye:	n/a
25	chr7:48128821-48128871	NH-A	brain:	n/a
26	chr7:48129814-48129864	NB4	blood:	n/a
27	chr7:48136352-48136402	U87	brain:	n/a
28	chr7:48129992-48130042	Caco-2	colon:	n/a
29	chr7:48129444-48129494	BE2_C	brain:	n/a
30	chr7:48128611-48128661	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:48128821-48128871	CMK	blood:	n/a
32	chr7:48128624-48128674	A549	lung:	n/a
33	chr7:48132109-48132159	BJ	skin:	n/a
34	chr7:48128611-48128661	GM12892	blood:	n/a
35	chr7:48131586-48131636	GM06990	blood:	n/a
36	chr7:48128624-48128674	SK-N-SH_RA	brain:	n/a
37	chr7:48130197-48130247	HCT-116	colon:	n/a
38	chr7:48128624-48128674	LNCaP	prostate:	n/a
39	chr7:48129814-48129864	ovcar-3	ovarian:	n/a
40	chr7:48129814-48129864	ECC-1	luminal epithelium:	n/a
41	chr7:48129814-48129864	GM12892	blood:	n/a
42	chr7:48128611-48128661	HCPEpiC	choroid plexus:	n/a
43	chr7:48129444-48129494	ECC-1	luminal epithelium:	n/a
44	chr7:48128452-48128502	PANC-1	pancreas:	n/a
45	chr7:48136352-48136402	AG09319	gingival:	n/a
46	chr7:48128611-48128661	HCT-116	colon:	n/a
47	chr7:48128821-48128871	SK-N-SH	brain:	n/a
48	chr7:48128611-48128661	AoSMC	blood vessel:	n/a
49	chr7:48129797-48129847	HNPCEpiC	eye:	n/a
50	chr7:48130197-48130247	GM12891	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:48017626..48019782-chr7:48136593..48139587,2	MCF-7	breast:
2	chr7:48017568..48020341-chr7:48128356..48131105,2	MCF-7	breast:
3	chr7:48134492..48136444-chr7:48138845..48140444,2	MCF-7	breast:
4	chr7:48128044..48129924-chr7:48134138..48135836,2	K562	blood:
5	chr7:48128828..48131724-chr7:48131867..48135623,4	K562	blood:
6	chr5:130970796..130971763-chr7:48128717..48129217,2	Hela-S3	cervix:
7	chr7:48138608..48140443-chr7:48142275..48144624,2	K562	blood:
8	chr7:48017456..48020295-chr7:48126750..48129913,5	K562	blood:
9	chr7:48017535..48019169-chr7:48128413..48129998,2	K562	blood:
10	chr7:48128689..48131153-chr7:48131226..48133019,2	MCF-7	breast:
11	chr13:99229380..99229995-chr7:48128637..48129292,2	Hela-S3	cervix:
12	chr7:26903972..26904735-chr7:48127989..48128616,2	Hela-S3	cervix:
13	chr6:74230393..74231038-chr7:48128462..48129209,2	HCT-116	colon:
14	chr7:48127890..48128535-chr7:114562417..114563199,2	Hela-S3	cervix:
15	chr2:190648263..190649127-chr7:48128850..48129707,2	Hela-S3	cervix:
16	chr7:48127323..48129947-chr7:48131574..48136086,4	MCF-7	breast:

No data

Variant related genes	Relation type
UPP1	TF binding region
UPP1	CpG island
ENSG00000224418	chromatin interactions
ENSG00000064933	chromatin interactions
ENSG00000135272	chromatin interactions
ENSG00000158987	chromatin interactions
ENSG00000183696	chromatin interactions
ENSG00000136273	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000128699	chromatin interactions

Extended variants
information (count: 378 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530409303	chr7:48128488-48128489	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs550577134	chr7:48128538-48128539	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs184573042	chr7:48128555-48128556	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs7458962	chr7:48128558-48128559	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs7459020	chr7:48128596-48128597	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs112111626	chr7:48128612-48128613	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs535524593	chr7:48128639-48128640	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs555428004	chr7:48128650-48128651	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs10278152	chr7:48128657-48128658	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs537850902	chr7:48128661-48128662	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs558174141	chr7:48128673-48128674	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs35225437	chr7:48128797-48128798	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs539919320	chr7:48128818-48128819	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs578158920	chr7:48128826-48128827	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs373819178	chr7:48128829-48128830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs540925293	chr7:48128831-48128832	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs376856652	chr7:48128849-48128850	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs3763505	chr7:48128850-48128851	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs543277877	chr7:48128858-48128859	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs373911537	chr7:48128861-48128862	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs563094488	chr7:48128873-48128874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs3763504	chr7:48128901-48128902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs370844315	chr7:48128958-48128959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs543853608	chr7:48129016-48129017	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs3763503	chr7:48129049-48129050	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs564115882	chr7:48129054-48129055	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs73337874	chr7:48129073-48129074	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546508812	chr7:48129083-48129084	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs73337876	chr7:48129154-48129155	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531197657	chr7:48129215-48129216	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs371524755	chr7:48129231-48129232	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs185837513	chr7:48129239-48129240	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs112319360	chr7:48129248-48129249	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs548814761	chr7:48129259-48129260	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs569244903	chr7:48129284-48129285	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs111478631	chr7:48129330-48129331	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs538347958	chr7:48129363-48129364	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs3752890	chr7:48129368-48129369	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs3752889	chr7:48129371-48129372	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs188266185	chr7:48129493-48129494	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs78112151	chr7:48129580-48129581	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs574413997	chr7:48129647-48129648	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs372630649	chr7:48129674-48129675	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs543238966	chr7:48129705-48129706	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs58725335	chr7:48129744-48129745	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566705835	chr7:48129769-48129770	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62447122	chr7:48129797-48129798	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1050267	chr7:48129812-48129813	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1050268	chr7:48129816-48129817	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369204123	chr7:48129842-48129843	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:875 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48126200-48128600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr7:48127200-48129600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:48127200-48129600	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr7:48127600-48128600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:48127600-48129600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:48127600-48129600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:48127600-48130000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:48127600-48130200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:48127600-48130200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:48127600-48130200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:48127600-48130400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:48127600-48130400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr7:48127600-48130400	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:48127600-48130600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:48127800-48128600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:48127800-48128600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr7:48127800-48128600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:48127800-48128600	Flanking Active TSS	HSMM	muscle
19	chr7:48127800-48128600	Flanking Active TSS	HUVEC	blood vessel
20	chr7:48127800-48129000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:48127800-48129400	Active TSS	HepG2	liver
22	chr7:48127800-48129600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:48127800-48129800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr7:48127800-48129800	Active TSS	Brain Anterior Caudate	brain
25	chr7:48127800-48130200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:48127800-48130200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:48127800-48130200	Active TSS	Colon Smooth Muscle	Colon
28	chr7:48127800-48130200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:48127800-48130400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:48127800-48130400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:48127800-48130600	Active TSS	Psoas Muscle	Psoas
32	chr7:48128000-48128600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr7:48128000-48128600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr7:48128000-48128600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:48128000-48128600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:48128000-48128600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr7:48128000-48128600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:48128000-48128600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:48128000-48128600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:48128000-48128600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:48128000-48128600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:48128000-48128600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr7:48128000-48128600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr7:48128000-48128600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr7:48128000-48128600	Flanking Active TSS	HMEC	breast
46	chr7:48128000-48128600	Flanking Active TSS	NH-A	brain
47	chr7:48128000-48128800	Bivalent Enhancer	Fetal Brain Male	brain
48	chr7:48128000-48129000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:48128000-48129200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr7:48128000-48129200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links