Variant report

Variant	esv3366035
Chromosome Location	chr7:5880626-5887624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:244)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:5887261-5887329	GM13976	blood:	n/a	n/a
2	CTCF	chr7:5883193-5883252	GM13976	blood:	n/a	n/a
3	MYC	chr7:5887331-5887392	MCF-7	breast:	n/a	n/a
4	MYC	chr7:5887536-5887680	GM12878	blood:	n/a	n/a
5	PAX5	chr7:5886978-5887170	GM12878	blood:	n/a	n/a
6	PAX5	chr7:5886793-5887376	GM12878	blood:	n/a	n/a
7	PAX5	chr7:5886877-5887310	GM12878	blood:	n/a	n/a
8	PAX5	chr7:5886958-5887229	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:5886866-5886872	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:5887179-5887185	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:5886713-5886730	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:5887139-5887178	K562	blood:	n/a	n/a
13	POLR2A	chr7:5886985-5886993	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:5885184-5885316	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:5887510-5887554	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:5885050-5885071	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:5886672-5886675	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:5886994-5887029	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:5887115-5887125	K562	blood:	n/a	n/a
20	POLR2A	chr7:5886720-5886862	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:5886731-5886809	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:5887167-5887175	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:5886651-5886665	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:5886716-5886719	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:5887251-5887353	MCF-7	breast:	n/a	n/a
26	POLR2A	chr7:5886812-5886872	MCF-7	breast:	n/a	n/a
27	USF1	chr7:5886487-5886618	HepG2	liver:	n/a	chr7:5886574-5886585
28	USF1	chr7:5886442-5886662	HepG2	liver:	n/a	chr7:5886574-5886585

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5885244-5885294	A549	lung:	n/a
2	chr7:5883645-5883695	SKMC	muscle:	n/a
3	chr7:5883645-5883695	AoSMC	blood vessel:	n/a
4	chr7:5883645-5883695	AG04450	lung:	fetal
5	chr7:5886722-5886772	AG09309	skin:	n/a
6	chr7:5886722-5886772	AG04449	skin:	fetal
7	chr7:5886722-5886772	HepG2	liver:	n/a
8	chr7:5886722-5886772	AoSMC	blood vessel:	n/a
9	chr7:5887023-5887073	HIPEpiC	eye:	n/a
10	chr7:5885244-5885294	Jurkat	blood:	n/a
11	chr7:5883645-5883695	ovcar-3	ovarian:	n/a
12	chr7:5885244-5885294	NB4	blood:	n/a
13	chr7:5886722-5886772	RPTEC	kidney:	n/a
14	chr7:5885244-5885294	SKMC	muscle:	n/a
15	chr7:5886722-5886772	IMR90	lung:	fetal
16	chr7:5886722-5886772	MCF-7	breast:	n/a
17	chr7:5886722-5886772	HMEC	breast:	n/a
18	chr7:5886722-5886772	HCT-116	colon:	n/a
19	chr7:5886722-5886772	PANC-1	pancreas:	n/a
20	chr7:5885244-5885294	BE2_C	brain:	n/a
21	chr7:5887023-5887073	GM19239	blood:	n/a
22	chr7:5885244-5885294	PANC-1	pancreas:	n/a
23	chr7:5885244-5885294	HEEpiC	esophagus:	n/a
24	chr7:5883645-5883695	T-47D	breast:	n/a
25	chr7:5883645-5883695	A549	lung:	n/a
26	chr7:5885244-5885294	AG09319	gingival:	n/a
27	chr7:5885244-5885294	CMK	blood:	n/a
28	chr7:5887023-5887073	AG04449	skin:	fetal
29	chr7:5883645-5883695	NT2-D1	testis:	n/a
30	chr7:5886722-5886772	HRCEpiC	kidney:	n/a
31	chr7:5883645-5883695	NH-A	brain:	n/a
32	chr7:5887023-5887073	GM12878	blood:	n/a
33	chr7:5883645-5883695	GM19239	blood:	n/a
34	chr7:5887023-5887073	AoSMC	blood vessel:	n/a
35	chr7:5886722-5886772	MCF10A-Er-Src	breast:	n/a
36	chr7:5883645-5883695	HCM	heart:	n/a
37	chr7:5887023-5887073	PANC-1	pancreas:	n/a
38	chr7:5883645-5883695	SK-N-SH_RA	brain:	n/a
39	chr7:5886722-5886772	SAEC	small airway:	n/a
40	chr7:5883645-5883695	RPTEC	kidney:	n/a
41	chr7:5887023-5887073	AG09309	skin:	n/a
42	chr7:5883645-5883695	SK-N-MC	brain:	n/a
43	chr7:5883645-5883695	IMR90	lung:	fetal
44	chr7:5885244-5885294	HRE	kidney:	n/a
45	chr7:5885244-5885294	ECC-1	luminal epithelium:	n/a
46	chr7:5885244-5885294	HNPCEpiC	eye:	n/a
47	chr7:5885244-5885294	ProgFib	skin:	n/a
48	chr7:5883645-5883695	HNPCEpiC	eye:	n/a
49	chr7:5887023-5887073	HEK293	kidney:	embryo
50	chr7:5885244-5885294	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5877107..5878733-chr7:5880762..5883645,2	K562	blood:
2	chr7:5875724..5878623-chr7:5880700..5882793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF815P	TF binding region
ZNF815P	CpG island

Extended variants
information (count: 455 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565122647	chr7:5880629-5880630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187652363	chr7:5880640-5880641	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530496395	chr7:5880657-5880658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549331930	chr7:5880673-5880674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76814346	chr7:5880702-5880703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534872212	chr7:5880707-5880708	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532627013	chr7:5880738-5880739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552901093	chr7:5880760-5880761	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75228837	chr7:5880770-5880771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370457747	chr7:5880804-5880805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538782284	chr7:5880815-5880816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192642404	chr7:5880833-5880834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575271592	chr7:5880841-5880842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115429664	chr7:5880849-5880850	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75286636	chr7:5880854-5880855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573459252	chr7:5880859-5880860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540878189	chr7:5880860-5880861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563080697	chr7:5880881-5880882	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185735091	chr7:5880900-5880901	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143977173	chr7:5880910-5880911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544803410	chr7:5880914-5880915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563355973	chr7:5880919-5880920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530568726	chr7:5880972-5880973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200076956	chr7:5880990-5880991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28589661	chr7:5880992-5880993	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs140943349	chr7:5881004-5881005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189428761	chr7:5881012-5881013	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192381126	chr7:5881013-5881014	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538812798	chr7:5881015-5881016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184536248	chr7:5881040-5881041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569004706	chr7:5881049-5881050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143267930	chr7:5881062-5881063	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554551771	chr7:5881127-5881128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368786611	chr7:5881129-5881130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62455943	chr7:5881132-5881133	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534245810	chr7:5881133-5881134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188948721	chr7:5881144-5881145	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527785481	chr7:5881175-5881176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577398387	chr7:5881185-5881186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537696218	chr7:5881186-5881187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112171643	chr7:5881195-5881196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181326689	chr7:5881196-5881197	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563025802	chr7:5881231-5881232	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73345351	chr7:5881262-5881263	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117981925	chr7:5881282-5881283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10278352	chr7:5881293-5881294	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs17135834	chr7:5881297-5881298	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116964157	chr7:5881298-5881299	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs112214150	chr7:5881301-5881302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186438311	chr7:5881333-5881334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5863600-5896800	Weak transcription	Esophagus	oesophagus
2	chr7:5863800-5881600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:5863800-5887000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:5863800-5891400	Weak transcription	Liver	Liver
5	chr7:5863800-5891400	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:5863800-5896200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:5864200-5893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:5867600-5885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:5869200-5881600	Weak transcription	Fetal Stomach	stomach
10	chr7:5871200-5882600	Weak transcription	Fetal Brain Male	brain
11	chr7:5871400-5881200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:5871400-5890600	Weak transcription	Brain Germinal Matrix	brain
13	chr7:5871400-5904600	Weak transcription	Spleen	Spleen
14	chr7:5871600-5889200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:5871600-5891800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:5871600-5896400	Weak transcription	Fetal Brain Female	brain
17	chr7:5873200-5896200	Weak transcription	Lung	lung
18	chr7:5873800-5881600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:5874400-5881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:5875400-5896600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:5876400-5896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:5877200-5881600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:5877400-5881600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:5877400-5881600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:5877400-5896200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:5877600-5891400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:5878200-5888200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:5878400-5886800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:5878600-5885400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:5878600-5885600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:5878600-5898000	Weak transcription	Brain Angular Gyrus	brain
32	chr7:5878800-5881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:5878800-5882200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:5878800-5889600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:5879000-5881400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:5879000-5881600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:5879000-5884600	Weak transcription	Brain Anterior Caudate	brain
38	chr7:5879200-5880800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:5879200-5881600	Weak transcription	Primary T cells from cord blood	blood
40	chr7:5879200-5881600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:5879200-5886200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:5879200-5886600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:5880400-5882400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr7:5880800-5885200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:5881200-5883600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr7:5881400-5882800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:5881600-5881800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:5881600-5882000	Strong transcription	Fetal Stomach	stomach
49	chr7:5881600-5882400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:5881600-5882400	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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