Variant report

Variant	nsv966925
Chromosome Location	chr7:5089807-5098568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:5098090-5098318	GM12878	blood:	n/a	chr7:5098198-5098208 chr7:5098197-5098208
2	CBX3	chr7:5091333-5091716	K562	blood:	n/a	n/a
3	CBX3	chr7:5091349-5091707	K562	blood:	n/a	n/a
4	CTCF	chr7:5096220-5096301	GM10248	blood:	n/a	n/a
5	CTCF	chr7:5098344-5098419	GM10248	blood:	n/a	n/a
6	HEY1	chr7:5093616-5093840	K562	blood:	n/a	n/a
7	JUND	chr7:5090359-5090653	HepG2	liver:	n/a	chr7:5090480-5090491
8	KAP1	chr7:5091298-5091821	HEK293	kidney:	n/a	n/a
9	KAP1	chr7:5091027-5091861	K562	blood:	n/a	n/a
10	POLR2A	chr7:5096789-5097060	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:5096742-5097026	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:5096181-5096475	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:5098540-5098947	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:5096394-5096677	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:5096736-5097106	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:5096150-5096663	GM12878	blood:	n/a	n/a
17	SETDB1	chr7:5091297-5091791	U2OS	brain:	n/a	n/a
18	SPI1	chr7:5097495-5097679	K562	blood:	n/a	chr7:5097628-5097641 chr7:5097628-5097641 chr7:5097630-5097637 chr7:5097629-5097638 chr7:5097627-5097640
19	SPI1	chr7:5097512-5097702	K562	blood:	n/a	chr7:5097628-5097641 chr7:5097628-5097641 chr7:5097630-5097637 chr7:5097629-5097638 chr7:5097627-5097640
20	SPI1	chr7:5097536-5097775	HL-60	blood:	n/a	chr7:5097628-5097641 chr7:5097628-5097641 chr7:5097630-5097637 chr7:5097629-5097638 chr7:5097627-5097640
21	SPI1	chr7:5097521-5097646	GM12878	blood:	n/a	chr7:5097628-5097641 chr7:5097628-5097641 chr7:5097630-5097637 chr7:5097629-5097638 chr7:5097627-5097640
22	SPI1	chr7:5097435-5097731	GM12891	blood:	n/a	chr7:5097628-5097641 chr7:5097628-5097641 chr7:5097630-5097637 chr7:5097629-5097638 chr7:5097627-5097640
23	SPI1	chr7:5097496-5097748	GM12878	blood:	n/a	chr7:5097628-5097641 chr7:5097628-5097641 chr7:5097630-5097637 chr7:5097629-5097638 chr7:5097627-5097640
24	TBL1XR1	chr7:5090707-5090712	K562	blood:	n/a	n/a
25	TRIM28	chr7:5091435-5091647	K562	blood:	n/a	n/a
26	TRIM28	chr7:5091264-5091678	K562	blood:	n/a	n/a
27	USF1	chr7:5091410-5091574	HepG2	liver:	n/a	n/a
28	USF1	chr7:5091353-5091767	A549	lung:	n/a	n/a
29	ZNF143	chr7:5091449-5091575	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZNF143	chr7:5091416-5091612	K562	blood:	n/a	n/a
31	ZNF384	chr7:5092967-5093022	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5097305..5100194-chr7:5103696..5105358,2	MCF-7	breast:
2	chr7:5085620..5087324-chr7:5089437..5091474,2	K562	blood:
3	chr7:5090004..5092198-chr7:5096546..5098807,2	K562	blood:
4	chr7:5087201..5088728-chr7:5090888..5093337,2	K562	blood:
5	chr7:5094315..5096516-chr7:5099109..5101709,3	K562	blood:
6	chr7:5090099..5092936-chr7:5106138..5109112,2	K562	blood:

Variant related genes	Relation type
RBAK	TF binding region
ENSG00000146587	chromatin interactions

Extended variants
information (count: 384 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:384 , 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	rs566943077	chr7:5089841-5089842	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376762114	chr7:5089874-5089875	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567149444	chr7:5089885-5089886	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144623852	chr7:5089887-5089888	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546561607	chr7:5089899-5089900	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375806612	chr7:5089909-5089910	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10234867	chr7:5089943-5089944	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538711583	chr7:5089945-5089946	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114428377	chr7:5089978-5089979	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73673272	chr7:5090002-5090003	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552009549	chr7:5090010-5090011	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114138371	chr7:5090037-5090038	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554616722	chr7:5090107-5090108	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573075230	chr7:5090131-5090132	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192883928	chr7:5090138-5090139	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114987533	chr7:5090156-5090157	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576925423	chr7:5090217-5090218	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544258516	chr7:5090248-5090249	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562631629	chr7:5090258-5090259	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530276854	chr7:5090260-5090261	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185069805	chr7:5090265-5090266	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs55661236	chr7:5090267-5090268	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189379921	chr7:5090274-5090275	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546640398	chr7:5090290-5090291	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368682572	chr7:5090313-5090314	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191459113	chr7:5090326-5090327	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532256682	chr7:5090331-5090332	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550737960	chr7:5090342-5090343	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568971607	chr7:5090361-5090362	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76690492	chr7:5090395-5090396	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113719722	chr7:5090433-5090434	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566673297	chr7:5090467-5090468	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534043569	chr7:5090471-5090472	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558534380	chr7:5090546-5090547	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140300854	chr7:5090555-5090556	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544196916	chr7:5090590-5090591	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556265102	chr7:5090633-5090634	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114051193	chr7:5090646-5090647	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542075216	chr7:5090720-5090721	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113880586	chr7:5090751-5090752	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572653551	chr7:5090807-5090808	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188203543	chr7:5090867-5090868	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182032140	chr7:5090868-5090869	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536658287	chr7:5090888-5090889	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532194142	chr7:5090899-5090900	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186420154	chr7:5090908-5090909	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12234314	chr7:5090937-5090938	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535378456	chr7:5090941-5090942	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529765892	chr7:5090945-5090946	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548084233	chr7:5090963-5090964	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Glioblastoma multiforme	21525872	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5086400-5090000	Weak transcription	NHEK	skin
2	chr7:5086400-5091200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:5086400-5091400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:5086400-5091400	Weak transcription	NHDF-Ad	bronchial
5	chr7:5086400-5092400	Weak transcription	Pancreas	Pancrea
6	chr7:5086400-5094000	Weak transcription	Small Intestine	intestine
7	chr7:5086400-5096800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:5086400-5101400	Weak transcription	Stomach Mucosa	stomach
9	chr7:5086600-5097200	Weak transcription	NHLF	lung
10	chr7:5086800-5109200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:5087000-5090000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:5087000-5090200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:5087000-5090200	Strong transcription	Fetal Stomach	stomach
14	chr7:5087000-5091400	Weak transcription	Spleen	Spleen
15	chr7:5087200-5091200	Weak transcription	HUVEC	blood vessel
16	chr7:5087400-5090000	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:5087400-5091400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:5087400-5092800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:5087400-5094800	Weak transcription	Gastric	stomach
20	chr7:5087400-5095000	Weak transcription	Hela-S3	cervix
21	chr7:5087400-5097200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:5088000-5090600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:5088000-5091200	Strong transcription	Fetal Thymus	thymus
24	chr7:5088200-5090000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:5088200-5090000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:5088200-5090200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:5088200-5090200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:5088200-5090200	Strong transcription	Placenta	Placenta
29	chr7:5088200-5090400	Strong transcription	HSMMtube	muscle
30	chr7:5088200-5090600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:5088200-5090800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:5088200-5090800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr7:5088200-5093000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:5088200-5107400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:5088200-5111400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:5088400-5090000	Strong transcription	Fetal Kidney	kidney
37	chr7:5088400-5090200	Strong transcription	Primary T cells from cord blood	blood
38	chr7:5088400-5090200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:5088400-5090400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:5088400-5090400	Strong transcription	Brain Cingulate Gyrus	brain
41	chr7:5088400-5090400	Strong transcription	Psoas Muscle	Psoas
42	chr7:5088400-5090600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:5088400-5090600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:5088400-5090600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:5088400-5090600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr7:5088400-5090800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr7:5088400-5091200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:5088400-5091400	Strong transcription	Osteobl	bone
49	chr7:5088400-5092600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:5088400-5098600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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