Variant report

Variant	nsv886122
Chromosome Location	chr6:68397567-68526511
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
2	chr6:68492831..68494635-chr6:68590295..68593150,2	K562	blood:
3	chr6:68403017..68405900-chr6:68588028..68590720,2	K562	blood:
4	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
5	chr6:68427555..68429805-chr6:68594951..68597288,2	K562	blood:
6	chr6:68403765..68404346-chr6:102923949..102924449,2	MCF-7	breast:
7	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
8	chr6:68474050..68477603-chr6:68477987..68481282,3	K562	blood:
9	chr6:68524696..68527384-chr6:68621549..68624145,2	K562	blood:
10	chr6:68502919..68505150-chr6:68587246..68590550,4	K562	blood:
11	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:
12	chr6:68483403..68485670-chr6:68597491..68600005,2	K562	blood:
13	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
14	chr6:68412434..68414327-chr6:68587582..68589254,2	K562	blood:
15	chr6:68443772..68446590-chr6:68448877..68451685,2	K562	blood:
16	chr6:68462396..68466041-chr6:68466528..68469791,3	K562	blood:
17	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
18	chr6:68526302..68528861-chr6:68589290..68590990,2	K562	blood:
19	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
20	chr6:68487636..68489959-chr6:68585344..68587572,2	K562	blood:
21	chr6:68506908..68510214-chr6:68588930..68590665,3	K562	blood:
22	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
23	chr6:68413174..68415186-chr6:68423979..68425964,2	K562	blood:
24	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
25	chr6:68468665..68470415-chr6:68479516..68482375,2	K562	blood:
26	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
27	chr6:68487893..68492102-chr6:68589175..68592601,3	K562	blood:
28	chr13:82142712..82144212-chr6:68403629..68406116,2	K562	blood:
29	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
30	chr6:68498733..68500691-chr6:68575961..68578214,2	K562	blood:
31	chr6:68443772..68446590-chr6:68448877..68451685,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions

Extended variants
information (count: 1178 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1178 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553037069	chr6:68398823-68398824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190828150	chr6:68398832-68398833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547844511	chr6:68398859-68398860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182069327	chr6:68398892-68398893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540682365	chr6:68398952-68398953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35954935	chr6:68398972-68398973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561026750	chr6:68398979-68398980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568169481	chr6:68398998-68398999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574494306	chr6:68399050-68399051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145200321	chr6:68399075-68399076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578090156	chr6:68399092-68399093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563371188	chr6:68399105-68399106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545636024	chr6:68399107-68399108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532413700	chr6:68399122-68399123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376519166	chr6:68399137-68399138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186124910	chr6:68399157-68399158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189535488	chr6:68399159-68399160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527696716	chr6:68399173-68399174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111918027	chr6:68399221-68399222	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567748193	chr6:68399301-68399302	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576036122	chr6:68399320-68399321	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550335265	chr6:68399325-68399326	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369905780	chr6:68399337-68399338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs149544884	chr6:68399347-68399348	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570173049	chr6:68399394-68399395	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182620324	chr6:68399435-68399436	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543041495	chr6:68399484-68399485	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558832902	chr6:68399548-68399549	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76471590	chr6:68399584-68399585	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534314070	chr6:68399589-68399590	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112354862	chr6:68399591-68399592	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570594358	chr6:68399696-68399697	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539742241	chr6:68399712-68399713	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73746162	chr6:68399743-68399744	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543167784	chr6:68399797-68399798	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs58565399	chr6:68399809-68399810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577115851	chr6:68399872-68399873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528497066	chr6:68399930-68399931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546748961	chr6:68400008-68400009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113094444	chr6:68400036-68400037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551203820	chr6:68400069-68400070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528444471	chr6:68400079-68400080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541396867	chr6:68400173-68400174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561161337	chr6:68400231-68400232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185342767	chr6:68400243-68400244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190052483	chr6:68400257-68400258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569873173	chr6:68400267-68400268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532554983	chr6:68400325-68400326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567238241	chr6:68400357-68400358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150541940	chr6:68400363-68400364	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68398800-68399400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr6:68399200-68399800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:68399200-68399800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:68399800-68400200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:68400200-68401200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:68401600-68404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:68426800-68427000	Active TSS	K562	blood
8	chr6:68426800-68427200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:68427000-68427200	Flanking Active TSS	K562	blood
10	chr6:68427200-68427400	Enhancers	K562	blood
11	chr6:68430800-68431400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:68432200-68432600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:68432600-68433200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:68432600-68433200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:68432600-68433400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:68432800-68433200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:68432800-68433400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:68433000-68433400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:68433200-68434800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:68443800-68444400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:68446200-68447400	Enhancers	HUVEC	blood vessel
22	chr6:68468600-68469000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:68468800-68469200	Active TSS	Fetal Heart	heart
24	chr6:68475600-68477000	Enhancers	HUVEC	blood vessel
25	chr6:68492200-68492600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:68492400-68492600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr6:68492600-68494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:68494000-68494200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:68500000-68500800	Enhancers	Fetal Brain Male	brain
30	chr6:68500600-68500800	ZNF genes & repeats	K562	blood
31	chr6:68500800-68502400	Weak transcription	K562	blood
32	chr6:68502400-68503200	Enhancers	K562	blood
33	chr6:68503200-68505400	Weak transcription	K562	blood
34	chr6:68505000-68506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:68505200-68506000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:68505200-68506000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:68505200-68506000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:68505200-68506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:68505400-68506400	Enhancers	K562	blood
40	chr6:68505600-68506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:68506400-68508800	Weak transcription	K562	blood
42	chr6:68508800-68509600	Enhancers	K562	blood
43	chr6:68525600-68526000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:68526000-68527000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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