Variant report

Variant	nsv526771
Chromosome Location	chr6:55846527-55894135
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	chr6:55845445..55846395-chr6:55861990..55862829,3	MCF-7	breast:
2	chr6:55865744..55868626-chr6:55870571..55872911,2	K562	blood:
3	chr6:55865744..55868626-chr6:55870571..55872911,2	K562	blood:
4	chr6:55824417..55826728-chr6:55848243..55849781,2	K562	blood:
5	chr6:55886589..55887225-chr6:56157105..56157760,2	MCF-7	breast:
6	chr6:55886493..55887163-chr6:56155410..56156320,2	MCF-7	breast:
7	chr6:55886745..55887604-chr6:56157130..56158002,2	MCF-7	breast:
8	chr6:55886603..55887384-chr6:55918244..55919071,2	MCF-7	breast:

No data

Extended variants
information (count: 957 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:957 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9357881	chr6:55846527-55846528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372785577	chr6:55846546-55846547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577262006	chr6:55846557-55846558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546260043	chr6:55846562-55846563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117930699	chr6:55846568-55846569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571048715	chr6:55846578-55846579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531664120	chr6:55846656-55846657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542115690	chr6:55846667-55846668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533339028	chr6:55846710-55846711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs68063041	chr6:55846762-55846763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545876527	chr6:55846794-55846795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561746487	chr6:55846828-55846829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187188839	chr6:55846852-55846853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151232310	chr6:55846891-55846892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547272468	chr6:55846892-55846893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190062796	chr6:55846951-55846952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182909342	chr6:55846956-55846957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187203496	chr6:55847025-55847026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569282867	chr6:55847030-55847031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112963184	chr6:55847119-55847120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193117814	chr6:55847220-55847221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140391189	chr6:55847239-55847240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555205345	chr6:55847273-55847274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562608565	chr6:55847276-55847277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373519941	chr6:55847280-55847281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185549786	chr6:55847384-55847385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552280532	chr6:55847424-55847425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535760930	chr6:55847512-55847513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554063013	chr6:55847532-55847533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188710107	chr6:55847576-55847577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546294827	chr6:55847577-55847578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546180959	chr6:55847648-55847649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531355164	chr6:55847696-55847697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201560754	chr6:55847701-55847702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199721024	chr6:55847709-55847710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201133597	chr6:55847710-55847711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112919983	chr6:55847848-55847849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562062884	chr6:55847897-55847898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192769150	chr6:55847964-55847965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541256849	chr6:55847969-55847970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564108043	chr6:55847999-55848000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532885595	chr6:55848000-55848001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549432146	chr6:55848061-55848062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183753826	chr6:55848067-55848068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62406067	chr6:55848116-55848117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6911711	chr6:55848128-55848129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568775162	chr6:55848147-55848148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149938400	chr6:55848236-55848237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554372529	chr6:55848317-55848318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536487726	chr6:55858026-55858027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55844800-55847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:55846200-55847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:55846400-55846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:55846400-55847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:55846400-55847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:55846800-55847200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:55847200-55848400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:55847400-55848000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:55847600-55848000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:55847800-55848200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:55858000-55858600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:55859400-55859800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:55859800-55862000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:55862000-55862600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:55862000-55862800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:55862400-55862600	Enhancers	Fetal Lung	lung
17	chr6:55862400-55862800	Enhancers	Fetal Stomach	stomach
18	chr6:55862800-55863800	Weak transcription	Fetal Stomach	stomach
19	chr6:55862800-55864000	Weak transcription	Fetal Lung	lung
20	chr6:55862800-55866800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:55863600-55864000	Enhancers	NHDF-Ad	bronchial
22	chr6:55863800-55864800	Enhancers	Fetal Stomach	stomach
23	chr6:55864000-55864400	Enhancers	Fetal Lung	lung
24	chr6:55864000-55866600	Weak transcription	NHDF-Ad	bronchial
25	chr6:55866600-55866800	Enhancers	NHDF-Ad	bronchial
26	chr6:55866600-55867400	Enhancers	NHLF	lung
27	chr6:55866600-55867600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:55866800-55867200	Weak transcription	NHDF-Ad	bronchial
29	chr6:55866800-55867800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:55867000-55867200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:55867000-55867800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:55867200-55867400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:55867200-55867800	Enhancers	NHDF-Ad	bronchial
34	chr6:55867200-55867800	Enhancers	Osteobl	bone
35	chr6:55867600-55867800	Enhancers	HSMM	muscle
36	chr6:55867600-55868800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:55867600-55869200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:55867800-55869000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:55867800-55869000	Weak transcription	Osteobl	bone
40	chr6:55868000-55869000	Weak transcription	HSMM	muscle
41	chr6:55868800-55869600	Enhancers	HSMMtube	muscle
42	chr6:55868800-55870000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:55868800-55870800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:55869000-55869200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:55869000-55869400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:55869000-55869400	Enhancers	HMEC	breast
47	chr6:55869000-55869400	Enhancers	HSMM	muscle
48	chr6:55869000-55869600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:55869000-55869600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:55869000-55869600	Enhancers	Osteobl	bone

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