Variant report

Variant	nsv885927
Chromosome Location	chr6:57395170-57469458
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:57437551..57439992-chr6:57443844..57446833,2	K562	blood:
2	chr6:57394320..57396660-chr6:58286293..58287831,2	MCF-7	breast:
3	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:
4	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
5	chr6:57429189..57431102-chr6:57440501..57442862,2	MCF-7	breast:
6	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
7	chr4:92702026..92702759-chr6:57445422..57446224,2	MCF-7	breast:
8	chr6:57445356..57445958-chr6:57689666..57690275,2	MCF-7	breast:
9	chr6:57405693..57407850-chr6:57408076..57409919,2	K562	blood:
10	chr6:57396857..57397774-chr9:95368803..95369303,2	MCF-7	breast:
11	chr6:57393591..57395977-chr6:57407320..57409957,2	MCF-7	breast:
12	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
13	chr6:57393591..57395977-chr6:57407320..57409957,2	MCF-7	breast:
14	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
15	chr6:57445367..57446031-chr6:62860058..62860574,2	MCF-7	breast:
16	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
17	chr6:57429189..57431102-chr6:57440501..57442862,2	MCF-7	breast:
18	chr6:57405693..57407850-chr6:57408076..57409919,2	K562	blood:
19	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
20	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
21	chr6:57437551..57439992-chr6:57443844..57446833,2	K562	blood:
22	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215190	chromatin interactions

Extended variants
information (count: 4312 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:4312 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2397517	chr6:57395170-57395171	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112738144	chr6:57395230-57395231	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs386701586	chr6:57395261-57395262	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs61346776	chr6:57395262-57395263	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565274948	chr6:57395275-57395276	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs386701587	chr6:57395277-57395278	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12202754	chr6:57395278-57395279	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577171083	chr6:57395291-57395292	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs62398989	chr6:57395292-57395293	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62398990	chr6:57395315-57395316	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541321800	chr6:57395332-57395333	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62398991	chr6:57395362-57395363	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74519885	chr6:57395396-57395397	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560007557	chr6:57395442-57395443	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76817635	chr6:57395451-57395452	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13437115	chr6:57395457-57395458	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4996893	chr6:57395486-57395487	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs4996894	chr6:57395487-57395488	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4996895	chr6:57395506-57395507	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4996896	chr6:57395526-57395527	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4996897	chr6:57395539-57395540	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548350125	chr6:57395541-57395542	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs563572676	chr6:57395545-57395546	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4996898	chr6:57395605-57395606	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1570074	chr6:57395613-57395614	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs5876595	chr6:57395645-57395646	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs398094222	chr6:57395646-57395647	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4996899	chr6:57395653-57395654	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549514082	chr6:57395667-57395668	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571112471	chr6:57395682-57395683	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538641268	chr6:57395692-57395693	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547340727	chr6:57395706-57395707	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565986857	chr6:57395743-57395744	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4996900	chr6:57395794-57395795	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4996901	chr6:57395806-57395807	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536183648	chr6:57395809-57395810	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4996902	chr6:57395810-57395811	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554790521	chr6:57395844-57395845	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs62398992	chr6:57395870-57395871	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1570073	chr6:57395888-57395889	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576350642	chr6:57395922-57395923	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs80143900	chr6:57395927-57395928	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75313306	chr6:57395955-57395956	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537495180	chr6:57395970-57395971	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78981466	chr6:57395979-57395980	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4440463	chr6:57395988-57395989	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559103292	chr6:57395994-57395995	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371579206	chr6:57395999-57396000	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541433804	chr6:57396026-57396027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559513354	chr6:57396032-57396033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	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
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57385400-57395600	Weak transcription	Osteobl	bone
2	chr6:57387000-57401200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:57390600-57402600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:57390800-57395400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:57390800-57397400	Weak transcription	Aorta	Aorta
6	chr6:57390800-57400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:57390800-57401600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:57392200-57399200	Weak transcription	HSMM	muscle
9	chr6:57393200-57395600	Weak transcription	HSMMtube	muscle
10	chr6:57393400-57398000	Weak transcription	Left Ventricle	heart
11	chr6:57393600-57395400	ZNF genes & repeats	HepG2	liver
12	chr6:57393800-57402200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:57394200-57403600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:57394400-57395400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:57394400-57395600	ZNF genes & repeats	NHDF-Ad	bronchial
16	chr6:57394600-57395200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:57394600-57395600	Strong transcription	Dnd41	blood
18	chr6:57394800-57396000	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr6:57395000-57396600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:57395000-57402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:57395200-57396000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:57395200-57402200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:57395400-57395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:57395400-57396000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:57395400-57396000	ZNF genes & repeats	GM12878-XiMat	blood
26	chr6:57395600-57396200	Weak transcription	NHDF-Ad	bronchial
27	chr6:57395600-57396200	Enhancers	Osteobl	bone
28	chr6:57395600-57397000	Weak transcription	Dnd41	blood
29	chr6:57395800-57396000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:57395800-57396000	Enhancers	Gastric	stomach
31	chr6:57396000-57397000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:57396000-57399400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:57396000-57401400	Weak transcription	GM12878-XiMat	blood
34	chr6:57396000-57408600	Weak transcription	Gastric	stomach
35	chr6:57396200-57397800	Enhancers	NHDF-Ad	bronchial
36	chr6:57396200-57403000	Weak transcription	Osteobl	bone
37	chr6:57396600-57402000	Weak transcription	Thymus	Thymus
38	chr6:57397000-57397400	Enhancers	Dnd41	blood
39	chr6:57397000-57397800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:57397400-57397800	Active TSS	Aorta	Aorta
41	chr6:57397400-57401200	Weak transcription	Dnd41	blood
42	chr6:57397600-57400600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:57397800-57398000	Weak transcription	NHDF-Ad	bronchial
44	chr6:57397800-57398200	Weak transcription	Aorta	Aorta
45	chr6:57397800-57403600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:57398000-57399400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr6:57398000-57399600	ZNF genes & repeats	NHDF-Ad	bronchial
48	chr6:57398200-57398800	Strong transcription	Aorta	Aorta
49	chr6:57398400-57398600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:57398400-57399000	Enhancers	HepG2	liver

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