Variant report

Variant	nsv886071
Chromosome Location	chr6:67582625-67651030
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:67620371..67622862-chr6:67622985..67625637,2	K562	blood:
2	chr6:67628434..67630192-chr6:67648108..67650563,2	K562	blood:
3	chr6:67636826..67639519-chr6:67639746..67642162,2	MCF-7	breast:
4	chr6:67641579..67644100-chr6:68068975..68070914,2	K562	blood:
5	chr6:67616212..67617756-chr6:67621376..67624095,2	MCF-7	breast:
6	chr6:67628434..67630192-chr6:67648108..67650563,2	K562	blood:
7	chr6:67636826..67639519-chr6:67639746..67642162,2	MCF-7	breast:
8	chr6:67616212..67617756-chr6:67621376..67624095,2	MCF-7	breast:
9	chr6:67620371..67622862-chr6:67622985..67625637,2	K562	blood:

No data

Extended variants
information (count: 1150 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1150 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575495660	chr6:67587037-67587038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544496943	chr6:67587044-67587045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9345918	chr6:67587075-67587076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs72889254	chr6:67587161-67587162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539814689	chr6:67587163-67587164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559843465	chr6:67587168-67587169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192816057	chr6:67587171-67587172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549353818	chr6:67587182-67587183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12211345	chr6:67587188-67587189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114474585	chr6:67587194-67587195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552115418	chr6:67587201-67587202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4301288	chr6:67587292-67587293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527711343	chr6:67587307-67587308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547795807	chr6:67587335-67587336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567693211	chr6:67587341-67587342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9445787	chr6:67587369-67587370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140624262	chr6:67587424-67587425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62419392	chr6:67587466-67587467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537609577	chr6:67587475-67587476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184376018	chr6:67587500-67587501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189202463	chr6:67587534-67587535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143692869	chr6:67587555-67587556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367631238	chr6:67587622-67587623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371759927	chr6:67587623-67587624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181945047	chr6:67587644-67587645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568710547	chr6:67587655-67587656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573703671	chr6:67587674-67587675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542711679	chr6:67587719-67587720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184981769	chr6:67587794-67587795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531950168	chr6:67587816-67587817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7767899	chr6:67587848-67587849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs76722759	chr6:67587849-67587850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532715513	chr6:67587857-67587858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189302463	chr6:67587894-67587895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116064046	chr6:67587896-67587897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531432833	chr6:67587918-67587919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79997891	chr6:67587922-67587923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181262477	chr6:67587964-67587965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186523484	chr6:67588001-67588002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537678661	chr6:67588013-67588014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75729600	chr6:67588022-67588023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148089485	chr6:67588068-67588069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533833173	chr6:67588073-67588074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80190412	chr6:67588106-67588107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573594765	chr6:67588108-67588109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191427582	chr6:67588122-67588123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12208576	chr6:67588182-67588183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577647263	chr6:67588198-67588199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576037201	chr6:67588202-67588203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568423829	chr6:67588236-67588237	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67587000-67588400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:67590600-67591200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:67590600-67591200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:67590600-67591200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:67590800-67591200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:67590800-67591200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
7	chr6:67606200-67607200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:67606200-67608000	Enhancers	NHEK	skin
9	chr6:67606400-67608000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:67606600-67608200	Enhancers	HMEC	breast
11	chr6:67607200-67608200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:67607400-67607800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:67607400-67607800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:67607400-67607800	Enhancers	Adipose Nuclei	Adipose
15	chr6:67607400-67608200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr6:67607600-67608000	Active TSS	Fetal Heart	heart
17	chr6:67607800-67609800	Weak transcription	Adipose Nuclei	Adipose
18	chr6:67609200-67613200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:67609400-67609600	Enhancers	NH-A	brain
20	chr6:67610000-67610600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:67610200-67610400	Enhancers	Adipose Nuclei	Adipose
22	chr6:67610200-67610400	Enhancers	NH-A	brain
23	chr6:67610200-67610600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:67610600-67611600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:67611600-67612000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:67611600-67612200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:67611600-67612400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:67621600-67622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:67631800-67632200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:67632200-67635800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:67633000-67646600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:67634200-67635800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:67636600-67637400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:67637200-67638600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:67637600-67638400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:67638600-67639000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:67639000-67639600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:67639600-67640800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:67639800-67640000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:67639800-67640200	Enhancers	HMEC	breast
41	chr6:67639800-67641400	Enhancers	NHEK	skin
42	chr6:67640000-67640800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:67640000-67641200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:67640800-67641000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:67640800-67641600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:67641400-67643000	Enhancers	Adipose Nuclei	Adipose
47	chr6:67642200-67642600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:67645400-67646000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:67646200-67646600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:67646200-67647200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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