Variant report

Variant	nsv7985
Chromosome Location	chr6:160715430-160737755
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:160733128..160735557-chr6:160736055..160738412,2	K562	blood:
2	chr6:160728963..160731856-chr6:160829180..160831346,2	K562	blood:
3	chr6:160509107..160510028-chr6:160718406..160718959,2	MCF-7	breast:
4	chr6:160559270..160559911-chr6:160718121..160718859,2	MCF-7	breast:
5	chr6:160716164..160718805-chr6:160722455..160725024,2	K562	blood:
6	chr6:160716164..160718805-chr6:160722455..160725024,2	K562	blood:
7	chr6:160733128..160735557-chr6:160736055..160738412,2	K562	blood:
8	chr6:160642201..160643043-chr6:160717927..160719056,3	MCF-7	breast:

No data

Extended variants
information (count: 1069 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557315321	chr6:160715468-160715469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574273882	chr6:160715520-160715521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542981720	chr6:160715543-160715544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559683972	chr6:160715546-160715547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577265	chr6:160715560-160715561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577261	chr6:160715564-160715565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183573793	chr6:160715574-160715575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1755934	chr6:160715575-160715576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187623151	chr6:160715579-160715580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566201749	chr6:160715616-160715617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569795202	chr6:160715643-160715644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529162648	chr6:160715648-160715649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190987514	chr6:160715678-160715679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565654747	chr6:160715696-160715697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534608484	chr6:160715702-160715703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2988707	chr6:160715735-160715736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139658628	chr6:160715761-160715762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199858043	chr6:160715764-160715765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562244632	chr6:160715816-160715817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536794150	chr6:160715817-160715818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557509801	chr6:160715841-160715842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574187464	chr6:160715850-160715851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3120152	chr6:160715858-160715859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553412252	chr6:160715882-160715883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572854907	chr6:160715909-160715910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149665799	chr6:160715929-160715930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76638005	chr6:160715939-160715940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575330050	chr6:160715958-160715959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544405940	chr6:160715980-160715981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374161660	chr6:160715990-160715991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73604547	chr6:160715998-160715999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77646206	chr6:160716022-160716023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559698131	chr6:160716025-160716026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528438660	chr6:160716031-160716032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373259123	chr6:160716055-160716056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113097210	chr6:160716057-160716058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112398201	chr6:160716060-160716061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3103351	chr6:160716066-160716067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550420339	chr6:160716080-160716081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567820168	chr6:160716093-160716094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536448961	chr6:160716100-160716101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367744955	chr6:160716116-160716117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553210937	chr6:160716118-160716119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548887836	chr6:160716137-160716138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3127581	chr6:160716153-160716154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538993070	chr6:160716156-160716157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377168908	chr6:160716168-160716169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80176869	chr6:160716171-160716172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7450667	chr6:160716220-160716221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577425792	chr6:160716240-160716241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160710400-160721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:160713400-160718600	Weak transcription	Aorta	Aorta
3	chr6:160714800-160715600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:160715200-160715600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:160715200-160718200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:160715200-160720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:160715400-160719000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:160715400-160720600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:160715400-160720600	Weak transcription	HMEC	breast
10	chr6:160715400-160720600	Weak transcription	NHEK	skin
11	chr6:160715400-160721800	Weak transcription	HSMMtube	muscle
12	chr6:160715600-160718800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:160715600-160720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:160718200-160718600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:160718400-160719400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr6:160718400-160723600	Enhancers	Fetal Muscle Leg	muscle
17	chr6:160718600-160719200	Enhancers	Aorta	Aorta
18	chr6:160718600-160719200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:160718600-160720800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:160718800-160719000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:160719000-160719200	Enhancers	Osteobl	bone
22	chr6:160719000-160719600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:160719000-160719800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:160719200-160719400	Flanking Active TSS	Osteobl	bone
25	chr6:160719200-160721400	Weak transcription	Aorta	Aorta
26	chr6:160719200-160721400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:160719400-160719600	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:160719400-160719600	Active TSS	Osteobl	bone
29	chr6:160719600-160719800	Flanking Active TSS	Osteobl	bone
30	chr6:160719600-160720000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:160719800-160720000	Enhancers	Osteobl	bone
32	chr6:160719800-160722600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:160720000-160720200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:160720200-160720600	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:160720200-160721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:160720400-160720600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:160720400-160720800	Enhancers	Hela-S3	cervix
38	chr6:160720400-160721000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:160720400-160721800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:160720600-160720800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:160720600-160720800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:160720600-160720800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr6:160720600-160721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:160720600-160721000	Enhancers	NHEK	skin
45	chr6:160720600-160721200	Enhancers	Colonic Mucosa	Colon
46	chr6:160720600-160721200	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr6:160720600-160722000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:160720600-160722000	Enhancers	HMEC	breast
49	chr6:160720600-160722200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:160720600-160722400	Enhancers	Fetal Intestine Large	intestine

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