Variant report

Variant	esv3321696
Chromosome Location	chr7:64029742-64032290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:64029780-64029930	AG04450	lung:	n/a	n/a
2	CTCF	chr7:64029840-64029990	WI-38	lung:	n/a	n/a
3	CTCF	chr7:64029853-64030043	NHEK	skin:	n/a	n/a
4	CTCF	chr7:64029680-64029830	GM12866	blood:	n/a	chr7:64029769-64029787
5	CTCF	chr7:64029920-64030070	HL-60	blood:	n/a	n/a
6	CTCF	chr7:64029859-64029868	GM19238	blood:	n/a	n/a
7	CTCF	chr7:64029880-64030030	AG04450	lung:	n/a	n/a
8	CTCF	chr7:64029880-64030030	GM12870	blood:	n/a	n/a
9	CTCF	chr7:64029765-64029853	GM10248	blood:	n/a	chr7:64029769-64029787
10	CTCF	chr7:64029880-64030030	GM12871	blood:	n/a	n/a
11	CTCF	chr7:64029900-64030050	SAEC	small airway:	n/a	n/a
12	CTCF	chr7:64029600-64029750	AG04449	skin:	n/a	n/a
13	CTCF	chr7:64029640-64029790	HCM	heart:	n/a	chr7:64029769-64029787
14	CTCF	chr7:64029860-64030010	NHEK	skin:	n/a	n/a
15	CTCF	chr7:64029860-64030010	AG04449	skin:	n/a	n/a
16	CTCF	chr7:64029840-64029990	RPTEC	kidney:	n/a	n/a
17	CTCF	chr7:64029880-64030030	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr7:64029860-64030010	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr7:64030622-64030684	ProgFib	skin:	n/a	n/a
20	CTCF	chr7:64029840-64029990	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr7:64029880-64030030	HVMF	connective:	n/a	n/a
22	CTCF	chr7:64029860-64030010	HAc	cerebellar:	n/a	n/a
23	CTCF	chr7:64029857-64029957	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr7:64029860-64030010	HMF	breast:	n/a	n/a
25	CTCF	chr7:64030416-64030439	GM12891	blood:	n/a	n/a
26	CTCF	chr7:64029738-64030082	IMR90	lung:	n/a	chr7:64029769-64029787
27	CTCF	chr7:64029880-64030030	HPF	lung:	n/a	n/a
28	CTCF	chr7:64029880-64030030	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr7:64029860-64030010	HMEC	breast:	n/a	n/a
30	CTCF	chr7:64029800-64029950	HRE	kidney:	n/a	n/a
31	CTCF	chr7:64029900-64030050	HCM	heart:	n/a	n/a
32	CTCF	chr7:64029800-64029950	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr7:64029872-64029948	GM13976	blood:	n/a	n/a
34	CTCF	chr7:64029856-64029994	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr7:64029860-64030010	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr7:64029940-64030090	A549	lung:	n/a	n/a
37	CTCF	chr7:64029840-64029990	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr7:64029880-64030030	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr7:64029860-64030010	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr7:64029820-64029970	GM12871	blood:	n/a	n/a
41	CTCF	chr7:64029840-64029990	AG10803	skin:	n/a	n/a
42	CTCF	chr7:64029880-64030030	HRE	kidney:	n/a	n/a
43	CTCF	chr7:64029700-64029850	HAc	cerebellar:	n/a	chr7:64029769-64029787
44	CTCF	chr7:64029840-64029990	AG04449	skin:	n/a	n/a
45	CTCF	chr7:64029940-64030090	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr7:64029795-64030008	GM12878	blood:	n/a	n/a
47	CTCF	chr7:64029860-64030010	NHLF	lung:	n/a	n/a
48	CTCF	chr7:64029840-64029990	HVMF	connective:	n/a	n/a
49	CTCF	chr7:64029840-64029990	NHEK	skin:	n/a	n/a
50	CTCF	chr7:64029840-64029990	AG09319	gingival:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64029999-64030049	GM12878	blood:	n/a
2	chr7:64030969-64031019	RPTEC	kidney:	n/a
3	chr7:64030739-64030789	HAEpiC	amniotic membrane:	n/a
4	chr7:64030969-64031019	T-47D	breast:	n/a
5	chr7:64030396-64030446	Jurkat	blood:	n/a
6	chr7:64030739-64030789	SK-N-SH_RA	brain:	n/a
7	chr7:64030969-64031019	Caco-2	colon:	n/a
8	chr7:64030739-64030789	HepG2	liver:	n/a
9	chr7:64030969-64031019	SAEC	small airway:	n/a
10	chr7:64030039-64030089	H1-hESC	embryonic stem cell:	embryo
11	chr7:64030969-64031019	SK-N-SH	brain:	n/a
12	chr7:64029999-64030049	HCT-116	colon:	n/a
13	chr7:64030739-64030789	GM12891	blood:	n/a
14	chr7:64030396-64030446	NT2-D1	testis:	n/a
15	chr7:64030039-64030089	SAEC	small airway:	n/a
16	chr7:64030396-64030446	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:64030396-64030446	HCF	heart:	n/a
18	chr7:64030039-64030089	HEK293	kidney:	embryo
19	chr7:64029999-64030049	GM12892	blood:	n/a
20	chr7:64029999-64030049	HEK293	kidney:	embryo
21	chr7:64030039-64030089	NHDF-neo	bronchial:	n/a
22	chr7:64030396-64030446	HRCEpiC	kidney:	n/a
23	chr7:64029999-64030049	SK-N-MC	brain:	n/a
24	chr7:64030039-64030089	AG09319	gingival:	n/a
25	chr7:64030969-64031019	Hela-S3	cervix:	n/a
26	chr7:64030396-64030446	HCPEpiC	choroid plexus:	n/a
27	chr7:64029999-64030049	AG09309	skin:	n/a
28	chr7:64030039-64030089	HRCEpiC	kidney:	n/a
29	chr7:64030039-64030089	PFSK-1	brain:	n/a
30	chr7:64029999-64030049	HCPEpiC	choroid plexus:	n/a
31	chr7:64030396-64030446	BE2_C	brain:	n/a
32	chr7:64029999-64030049	HUVEC	blood vessel:	n/a
33	chr7:64029999-64030049	K562	blood:	n/a
34	chr7:64030396-64030446	AG04449	skin:	fetal
35	chr7:64029999-64030049	T-47D	breast:	n/a
36	chr7:64029999-64030049	AG04449	skin:	fetal
37	chr7:64030969-64031019	AG04450	lung:	fetal
38	chr7:64030739-64030789	PrEC	prostate:	n/a
39	chr7:64029999-64030049	Jurkat	blood:	n/a
40	chr7:64030969-64031019	ProgFib	skin:	n/a
41	chr7:64030739-64030789	HL-60	blood:	n/a
42	chr7:64030739-64030789	NT2-D1	testis:	n/a
43	chr7:64030739-64030789	MCF10A-Er-Src	breast:	n/a
44	chr7:64030396-64030446	GM12892	blood:	n/a
45	chr7:64030739-64030789	NHDF-neo	bronchial:	n/a
46	chr7:64030039-64030089	SK-N-MC	brain:	n/a
47	chr7:64030739-64030789	HRE	kidney:	n/a
48	chr7:64030739-64030789	U87	brain:	n/a
49	chr7:64030396-64030446	SK-N-SH	brain:	n/a
50	chr7:64030739-64030789	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000235349	TF binding region
ENSG00000213642	TF binding region
ENSG00000235349	CpG island
ENSG00000213642	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181491274	chr7:64029853-64029854	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs578002033	chr7:64029909-64029910	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139059343	chr7:64029914-64029915	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563525313	chr7:64029934-64029935	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs185515265	chr7:64029975-64029976	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549242506	chr7:64029976-64029977	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs149899587	chr7:64030053-64030054	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs528674304	chr7:64030080-64030081	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs537741431	chr7:64030111-64030112	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs1446886	chr7:64030116-64030117	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs539120674	chr7:64030136-64030137	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549795728	chr7:64030158-64030159	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569648141	chr7:64030280-64030281	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs535783739	chr7:64030317-64030318	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs577002805	chr7:64030347-64030348	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555716024	chr7:64030404-64030405	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs572344704	chr7:64030409-64030410	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs145175825	chr7:64030414-64030415	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs373962873	chr7:64030416-64030417	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs534822425	chr7:64030463-64030464	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557629212	chr7:64030469-64030470	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs578080993	chr7:64030483-64030484	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200617629	chr7:64030498-64030499	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563368695	chr7:64030515-64030516	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs144973949	chr7:64030516-64030517	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542575851	chr7:64030524-64030525	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559640757	chr7:64030528-64030529	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs528733062	chr7:64030539-64030540	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs111845130	chr7:64030542-64030543	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112668901	chr7:64030588-64030589	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529638693	chr7:64030593-64030594	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs117623302	chr7:64030596-64030597	Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533076406	chr7:64030619-64030620	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs549596375	chr7:64030774-64030775	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs571733300	chr7:64030776-64030777	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs569733374	chr7:64030784-64030785	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs528918804	chr7:64030789-64030790	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs547922381	chr7:64030791-64030792	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs565992311	chr7:64030812-64030813	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534605558	chr7:64030837-64030838	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111772778	chr7:64030951-64030952	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10233660	chr7:64030952-64030953	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10279359	chr7:64030977-64030978	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs143751074	chr7:64030995-64030996	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
45	rs563359367	chr7:64031020-64031021	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs573766927	chr7:64031092-64031093	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190275030	chr7:64031112-64031113	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552908354	chr7:64031122-64031123	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566814948	chr7:64031354-64031355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573520399	chr7:64031448-64031449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64023600-64029800	Weak transcription	Gastric	stomach
2	chr7:64023600-64029800	Weak transcription	Pancreas	Pancrea
3	chr7:64028600-64029800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:64029200-64029800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:64029400-64029800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
6	chr7:64029400-64029800	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:64029400-64029800	ZNF genes & repeats	Spleen	Spleen
8	chr7:64029400-64030400	Enhancers	Lung	lung
9	chr7:64029400-64030800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:64029400-64030800	Active TSS	Brain Anterior Caudate	brain
11	chr7:64029400-64031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:64029600-64029800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:64029600-64029800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr7:64029600-64029800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr7:64029600-64029800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:64029600-64029800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:64029600-64029800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:64029600-64029800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr7:64029600-64029800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:64029600-64029800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:64029600-64029800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:64029600-64029800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:64029600-64029800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:64029600-64029800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:64029600-64029800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:64029600-64029800	Active TSS	Adipose Nuclei	Adipose
27	chr7:64029600-64029800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr7:64029600-64029800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr7:64029600-64029800	Bivalent Enhancer	Fetal Thymus	thymus
30	chr7:64029600-64029800	Enhancers	Left Ventricle	heart
31	chr7:64029600-64029800	Enhancers	Ovary	ovary
32	chr7:64029600-64029800	Flanking Active TSS	Right Atrium	heart
33	chr7:64029600-64029800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
34	chr7:64029600-64030000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:64029600-64030000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:64029600-64030000	ZNF genes & repeats	Liver	Liver
37	chr7:64029600-64030000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr7:64029600-64030000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr7:64029600-64030000	Enhancers	Fetal Heart	heart
40	chr7:64029600-64030000	Bivalent Enhancer	Placenta	Placenta
41	chr7:64029600-64030000	Bivalent/Poised TSS	NH-A	brain
42	chr7:64029600-64030200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr7:64029600-64030200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:64029600-64030200	Bivalent Enhancer	Fetal Brain Male	brain
45	chr7:64029600-64030400	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr7:64029600-64030600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr7:64029600-64030600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:64029600-64030600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr7:64029600-64030600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:64029600-64030600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links