Variant report

Variant	nsv970858
Chromosome Location	chr7:64258046-64264349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64252597..64259122-chr7:64259592..64265160,8	MCF-7	breast:
2	chr7:64250473..64252663-chr7:64257719..64259262,2	K562	blood:
3	chr7:64253641..64257580-chr7:64258986..64262428,5	K562	blood:
4	chr7:64261731..64264304-chr7:64363092..64364909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197008	chromatin interactions
ENSG00000198039	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6956610	chr7:64258073-64258074	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368101669	chr7:64258105-64258106	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181167479	chr7:64258149-64258150	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564295523	chr7:64258151-64258152	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186021421	chr7:64258224-64258225	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534453532	chr7:64258248-64258249	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6964501	chr7:64258256-64258257	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535409487	chr7:64258287-64258288	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368518613	chr7:64258298-64258299	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565593011	chr7:64258344-64258345	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115511433	chr7:64258446-64258447	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11766801	chr7:64258465-64258466	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551156241	chr7:64258478-64258479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557609029	chr7:64258500-64258501	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191167570	chr7:64258550-64258551	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34869022	chr7:64258567-64258568	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375976609	chr7:64258630-64258631	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150788755	chr7:64258636-64258637	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557197484	chr7:64258644-64258645	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574015987	chr7:64258681-64258682	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182486968	chr7:64258786-64258787	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559704415	chr7:64258801-64258802	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112932581	chr7:64258802-64258803	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs138098880	chr7:64258829-64258830	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187675356	chr7:64258842-64258843	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565265520	chr7:64258855-64258856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190864488	chr7:64258892-64258893	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569669163	chr7:64258903-64258904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs550018523	chr7:64258941-64258942	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs61381087	chr7:64258960-64258961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs57189926	chr7:64258975-64258976	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs55889908	chr7:64258991-64258992	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563546717	chr7:64259005-64259006	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529205078	chr7:64259007-64259008	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548662313	chr7:64259085-64259086	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565662429	chr7:64259088-64259089	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528101170	chr7:64259104-64259105	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113893719	chr7:64259105-64259106	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
39	rs571024991	chr7:64259109-64259110	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73360629	chr7:64259113-64259114	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76885150	chr7:64259159-64259160	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75929259	chr7:64259169-64259170	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs398085850	chr7:64259171-64259172	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201513369	chr7:64259172-64259173	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117348104	chr7:64259217-64259218	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557287423	chr7:64259286-64259287	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552999812	chr7:64259328-64259329	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140389821	chr7:64259400-64259401	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536939958	chr7:64259414-64259415	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553434949	chr7:64259427-64259428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64259600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:64255400-64259600	Weak transcription	Lung	lung
3	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
4	chr7:64255600-64259800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:64255600-64260600	Weak transcription	Colonic Mucosa	Colon
6	chr7:64255600-64262000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:64255600-64266400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:64255800-64259000	Weak transcription	Fetal Intestine Large	intestine
9	chr7:64255800-64259600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:64255800-64259600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:64255800-64259800	Weak transcription	HUVEC	blood vessel
12	chr7:64255800-64262400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:64255800-64268400	Weak transcription	Right Ventricle	heart
14	chr7:64255800-64272600	Weak transcription	NHLF	lung
15	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
16	chr7:64255800-64293200	Weak transcription	NH-A	brain
17	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
18	chr7:64256000-64259600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:64256000-64259800	Weak transcription	Liver	Liver
20	chr7:64256000-64259800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:64256000-64260200	Weak transcription	HSMMtube	muscle
22	chr7:64256000-64264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
25	chr7:64256200-64260200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:64256400-64258600	Weak transcription	A549	lung
27	chr7:64256400-64259200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:64256400-64259200	Weak transcription	Osteobl	bone
29	chr7:64256400-64259400	Weak transcription	Thymus	Thymus
30	chr7:64256400-64259600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:64256400-64259600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:64256400-64259600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:64256400-64259600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:64256400-64259600	Weak transcription	Fetal Thymus	thymus
35	chr7:64256400-64259600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:64256400-64259800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:64256400-64259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:64256400-64259800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:64256400-64259800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:64256400-64259800	Weak transcription	NHDF-Ad	bronchial
41	chr7:64256400-64260200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:64256400-64260200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:64256400-64260400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:64256400-64261400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:64256400-64262000	Weak transcription	Stomach Mucosa	stomach
46	chr7:64256400-64262600	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:64256400-64263800	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:64256400-64276800	Weak transcription	HMEC	breast
49	chr7:64256600-64258400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:64256600-64259000	Weak transcription	NHEK	skin

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