Variant report

Variant	nsv1032151
Chromosome Location	chr6:68455238-68509030
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
2	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
3	chr6:68492831..68494635-chr6:68590295..68593150,2	K562	blood:
4	chr6:68483403..68485670-chr6:68597491..68600005,2	K562	blood:
5	chr6:68506908..68510214-chr6:68588930..68590665,3	K562	blood:
6	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
7	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
8	chr6:68502919..68505150-chr6:68587246..68590550,4	K562	blood:
9	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
10	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
11	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
12	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
13	chr6:68487636..68489959-chr6:68585344..68587572,2	K562	blood:
14	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
15	chr6:68498733..68500691-chr6:68575961..68578214,2	K562	blood:
16	chr6:68487893..68492102-chr6:68589175..68592601,3	K562	blood:
17	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:
18	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
19	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
20	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions

Extended variants
information (count: 688 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369909495	chr6:68468650-68468651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577998181	chr6:68468680-68468681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540533900	chr6:68468683-68468684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559742549	chr6:68468684-68468685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs528489858	chr6:68468744-68468745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141206185	chr6:68468779-68468780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560550897	chr6:68468785-68468786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531068396	chr6:68468790-68468791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550751183	chr6:68468804-68468805	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs150734588	chr6:68468805-68468806	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185429552	chr6:68468819-68468820	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs139048036	chr6:68468888-68468889	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566434941	chr6:68468892-68468893	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149872442	chr6:68468930-68468931	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs555377488	chr6:68468980-68468981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34405559	chr6:68469010-68469011	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372546255	chr6:68469017-68469018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144858002	chr6:68469030-68469031	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4530842	chr6:68469041-68469042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532073123	chr6:68469045-68469046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368262071	chr6:68469111-68469112	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144448781	chr6:68469138-68469139	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552853669	chr6:68469190-68469191	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556307528	chr6:68475604-68475605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141497269	chr6:68475608-68475609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183606904	chr6:68475651-68475652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538024902	chr6:68475660-68475661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367627285	chr6:68475661-68475662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574715455	chr6:68475677-68475678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188501171	chr6:68475720-68475721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577854030	chr6:68475756-68475757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12202814	chr6:68475773-68475774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12202815	chr6:68475774-68475775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4132002	chr6:68475787-68475788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573203660	chr6:68475789-68475790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12215907	chr6:68475804-68475805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561823739	chr6:68475839-68475840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192508829	chr6:68475893-68475894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544398883	chr6:68475911-68475912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561751543	chr6:68475913-68475914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564344201	chr6:68475916-68475917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533419996	chr6:68475948-68475949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547288365	chr6:68475954-68475955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546224411	chr6:68475956-68475957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35815421	chr6:68476015-68476016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566318644	chr6:68476020-68476021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528861130	chr6:68476041-68476042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549035849	chr6:68476082-68476083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564326756	chr6:68476097-68476098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184571494	chr6:68476129-68476130	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68468600-68469000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:68468800-68469200	Active TSS	Fetal Heart	heart
3	chr6:68475600-68477000	Enhancers	HUVEC	blood vessel
4	chr6:68492200-68492600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:68492400-68492600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr6:68492600-68494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:68494000-68494200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:68500000-68500800	Enhancers	Fetal Brain Male	brain
9	chr6:68500600-68500800	ZNF genes & repeats	K562	blood
10	chr6:68500800-68502400	Weak transcription	K562	blood
11	chr6:68502400-68503200	Enhancers	K562	blood
12	chr6:68503200-68505400	Weak transcription	K562	blood
13	chr6:68505000-68506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:68505200-68506000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:68505200-68506000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:68505200-68506000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:68505200-68506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:68505400-68506400	Enhancers	K562	blood
19	chr6:68505600-68506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:68506400-68508800	Weak transcription	K562	blood
21	chr6:68508800-68509600	Enhancers	K562	blood

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