Variant report

Variant	nsv971129
Chromosome Location	chr7:6335095-6361668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6310552..6312369-chr7:6355817..6357966,2	K562	blood:
2	chr7:6346440..6348361-chr7:6354558..6357169,2	K562	blood:
3	chr7:6346440..6348361-chr7:6354558..6357169,2	K562	blood:
4	chr7:6200618..6201665-chr7:6361362..6362302,3	K562	blood:
5	chr7:6035383..6037045-chr7:6343734..6346245,2	MCF-7	breast:
6	chr7:6310796..6312409-chr7:6348084..6350532,2	K562	blood:
7	chr7:6320860..6323192-chr7:6343714..6347406,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYTH3-2	chr7:6336984-6337416	NONHSAT118993

No data

Variant related genes	Relation type
ENSG00000008256	chromatin interactions

Extended variants
information (count: 1335 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1335 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140080817	chr7:6335097-6335098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs578190249	chr7:6335127-6335128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144136966	chr7:6335138-6335139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557582685	chr7:6335143-6335144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575555782	chr7:6335146-6335147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543050930	chr7:6335158-6335159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560945842	chr7:6335180-6335181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs1981903	chr7:6335186-6335187	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200625025	chr7:6335200-6335201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140706198	chr7:6335209-6335210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12531126	chr7:6335249-6335250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551390296	chr7:6335270-6335271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7782807	chr7:6335297-6335298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375865992	chr7:6335331-6335332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200589945	chr7:6335367-6335368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530710892	chr7:6335371-6335372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192121498	chr7:6335383-6335384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148842169	chr7:6335387-6335388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534722985	chr7:6335404-6335405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553073343	chr7:6335407-6335408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566799424	chr7:6335410-6335411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75411542	chr7:6335411-6335412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7799147	chr7:6335428-6335429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7782787	chr7:6335452-6335453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs552192226	chr7:6335491-6335492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376157703	chr7:6335539-6335540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544247388	chr7:6335540-6335541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10687333	chr7:6335567-6335568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7782961	chr7:6335583-6335584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139221874	chr7:6335586-6335587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556119296	chr7:6335595-6335596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560659639	chr7:6335609-6335610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542931006	chr7:6335615-6335616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183378050	chr7:6335617-6335618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369476219	chr7:6335623-6335624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376963377	chr7:6335624-6335625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572869085	chr7:6335647-6335648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147486571	chr7:6335655-6335656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147112077	chr7:6335676-6335677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148179353	chr7:6335682-6335683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545234112	chr7:6335683-6335684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188072963	chr7:6335695-6335696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530866817	chr7:6335727-6335728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549264429	chr7:6335738-6335739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191371160	chr7:6335743-6335744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60092436	chr7:6335752-6335753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528042915	chr7:6335758-6335759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570405490	chr7:6335791-6335792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76223396	chr7:6335792-6335793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538355626	chr7:6335803-6335804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6330400-6345200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:6334400-6335200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:6334400-6335200	Enhancers	Fetal Muscle Leg	muscle
4	chr7:6334400-6335200	Flanking Active TSS	A549	lung
5	chr7:6334400-6335400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:6335200-6342000	Weak transcription	A549	lung
7	chr7:6335400-6347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:6335800-6336200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:6336200-6336400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:6336400-6337200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:6337200-6337400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:6337200-6337600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:6337400-6341800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:6337600-6345400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:6340000-6340800	Enhancers	Placenta	Placenta
16	chr7:6340800-6341400	Weak transcription	Placenta	Placenta
17	chr7:6341400-6341600	Enhancers	Placenta	Placenta
18	chr7:6341600-6345600	Weak transcription	Placenta	Placenta
19	chr7:6341800-6342200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:6342000-6342200	Enhancers	A549	lung
21	chr7:6342000-6342400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:6342000-6342400	Active TSS	Ovary	ovary
23	chr7:6342000-6342400	Active TSS	Osteobl	bone
24	chr7:6342200-6342400	Active TSS	HUVEC	blood vessel
25	chr7:6342200-6342600	Flanking Active TSS	A549	lung
26	chr7:6342200-6342600	Active TSS	NHDF-Ad	bronchial
27	chr7:6342200-6342800	Active TSS	Adipose Nuclei	Adipose
28	chr7:6342200-6345200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:6342400-6342600	Bivalent Enhancer	HepG2	liver
30	chr7:6342400-6342600	Flanking Active TSS	HUVEC	blood vessel
31	chr7:6342400-6342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:6342400-6346000	Weak transcription	Osteobl	bone
33	chr7:6342600-6342800	Flanking Active TSS	NHDF-Ad	bronchial
34	chr7:6342600-6343000	Enhancers	A549	lung
35	chr7:6342600-6343000	Enhancers	HUVEC	blood vessel
36	chr7:6342800-6343000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:6342800-6343200	Enhancers	Adipose Nuclei	Adipose
38	chr7:6342800-6346000	Weak transcription	NHDF-Ad	bronchial
39	chr7:6343000-6344800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:6343000-6344800	Weak transcription	A549	lung
41	chr7:6343000-6346000	Weak transcription	HUVEC	blood vessel
42	chr7:6343200-6346000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:6343200-6346000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:6343200-6346000	Weak transcription	HSMM	muscle
45	chr7:6344800-6345400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:6344800-6345400	Enhancers	HepG2	liver
47	chr7:6344800-6348400	Enhancers	A549	lung
48	chr7:6345200-6345400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:6345200-6347800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:6345400-6345600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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