Variant report

Variant	nsv463144
Chromosome Location	chr6:68470086-68563328
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68547444..68549949-chr6:68573736..68576048,2	K562	blood:
2	chr6:68540202..68542998-chr6:68546764..68550157,3	K562	blood:
3	chr6:68537029..68538860-chr6:68542513..68544423,2	K562	blood:
4	chr6:68492831..68494635-chr6:68590295..68593150,2	K562	blood:
5	chr6:68498733..68500691-chr6:68575961..68578214,2	K562	blood:
6	chr6:68487636..68489959-chr6:68585344..68587572,2	K562	blood:
7	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
8	chr6:68546534..68549959-chr6:68591405..68594115,3	K562	blood:
9	chr6:68536915..68539495-chr6:68589360..68592356,2	K562	blood:
10	chr6:68524696..68527384-chr6:68621549..68624145,2	K562	blood:
11	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
12	chr6:68502919..68505150-chr6:68587246..68590550,4	K562	blood:
13	chr6:68543570..68546235-chr6:68549080..68552286,3	K562	blood:
14	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:
15	chr6:68537029..68538860-chr6:68542513..68544423,2	K562	blood:
16	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
17	chr6:68556597..68558749-chr6:68589649..68591712,2	K562	blood:
18	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
19	chr6:68536799..68539603-chr6:68596388..68598397,3	K562	blood:
20	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
21	chr6:68526302..68528861-chr6:68589290..68590990,2	K562	blood:
22	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
23	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
24	chr6:68506908..68510214-chr6:68588930..68590665,3	K562	blood:
25	chr6:68483403..68485670-chr6:68597491..68600005,2	K562	blood:
26	chr6:68562527..68565215-chr6:68588017..68590595,2	K562	blood:
27	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
28	chr6:68533843..68535675-chr6:68541395..68544034,2	K562	blood:
29	chr6:68533843..68535675-chr6:68541395..68544034,2	K562	blood:
30	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:
31	chr6:68547547..68550357-chr6:68551915..68554138,2	K562	blood:
32	chr6:68547547..68550357-chr6:68551915..68554138,2	K562	blood:
33	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
34	chr6:68543570..68546235-chr6:68549080..68552286,3	K562	blood:
35	chr6:68487893..68492102-chr6:68589175..68592601,3	K562	blood:
36	chr6:68540202..68542998-chr6:68546764..68550157,3	K562	blood:
37	chr10:129266757..129267591-chr6:68536748..68537711,2	NB4	blood:
38	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions

Extended variants
information (count: 1546 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556307528	chr6:68475604-68475605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141497269	chr6:68475608-68475609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183606904	chr6:68475651-68475652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538024902	chr6:68475660-68475661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367627285	chr6:68475661-68475662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574715455	chr6:68475677-68475678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188501171	chr6:68475720-68475721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577854030	chr6:68475756-68475757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12202814	chr6:68475773-68475774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12202815	chr6:68475774-68475775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4132002	chr6:68475787-68475788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573203660	chr6:68475789-68475790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12215907	chr6:68475804-68475805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561823739	chr6:68475839-68475840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192508829	chr6:68475893-68475894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544398883	chr6:68475911-68475912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561751543	chr6:68475913-68475914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564344201	chr6:68475916-68475917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533419996	chr6:68475948-68475949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547288365	chr6:68475954-68475955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546224411	chr6:68475956-68475957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35815421	chr6:68476015-68476016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566318644	chr6:68476020-68476021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528861130	chr6:68476041-68476042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549035849	chr6:68476082-68476083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564326756	chr6:68476097-68476098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184571494	chr6:68476129-68476130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537984189	chr6:68476147-68476148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189261768	chr6:68476158-68476159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531797137	chr6:68476174-68476175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35623387	chr6:68476177-68476178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533810400	chr6:68476207-68476208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554055649	chr6:68476211-68476212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191386937	chr6:68476214-68476215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146160920	chr6:68476227-68476228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183608784	chr6:68476243-68476244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148793710	chr6:68476265-68476266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575287481	chr6:68476269-68476270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569042978	chr6:68476340-68476341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544309632	chr6:68476352-68476353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564488609	chr6:68476359-68476360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533601741	chr6:68476360-68476361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531158606	chr6:68476407-68476408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17547185	chr6:68476415-68476416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs529602499	chr6:68476416-68476417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548999073	chr6:68476451-68476452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562467466	chr6:68476456-68476457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531392202	chr6:68476503-68476504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551514201	chr6:68476550-68476551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141545272	chr6:68476559-68476560	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68475600-68477000	Enhancers	HUVEC	blood vessel
2	chr6:68492200-68492600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:68492400-68492600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr6:68492600-68494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:68494000-68494200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:68500000-68500800	Enhancers	Fetal Brain Male	brain
7	chr6:68500600-68500800	ZNF genes & repeats	K562	blood
8	chr6:68500800-68502400	Weak transcription	K562	blood
9	chr6:68502400-68503200	Enhancers	K562	blood
10	chr6:68503200-68505400	Weak transcription	K562	blood
11	chr6:68505000-68506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:68505200-68506000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:68505200-68506000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:68505200-68506000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:68505200-68506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:68505400-68506400	Enhancers	K562	blood
17	chr6:68505600-68506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:68506400-68508800	Weak transcription	K562	blood
19	chr6:68508800-68509600	Enhancers	K562	blood
20	chr6:68525600-68526000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:68526000-68527000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:68527000-68527600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:68527400-68527600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:68527600-68538200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:68535400-68535600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:68535600-68537400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:68538200-68538400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:68543600-68545000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:68543600-68545000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:68543600-68545200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:68543600-68545400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:68543800-68545000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:68544200-68544800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:68544400-68544800	Enhancers	K562	blood
35	chr6:68544400-68545200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:68544600-68545000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:68544600-68545000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:68549200-68549600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:68556600-68559000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:68557800-68558200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links