Variant report

Variant	esv34754
Chromosome Location	chr6:68417692-68532979
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000227706	chromatin interactions

Extended variants
information (count: 1347 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557679181	chr6:68426808-68426809	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs150964325	chr6:68426812-68426813	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369352145	chr6:68426821-68426822	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567079620	chr6:68426824-68426825	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545770942	chr6:68426901-68426902	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9354619	chr6:68426904-68426905	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553751312	chr6:68426953-68426954	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572863655	chr6:68426960-68426961	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183256193	chr6:68427062-68427063	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561846764	chr6:68427073-68427074	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373427513	chr6:68427118-68427119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530613632	chr6:68427140-68427141	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186813186	chr6:68427156-68427157	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563998098	chr6:68427166-68427167	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558566631	chr6:68427182-68427183	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533061109	chr6:68427204-68427205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142044370	chr6:68427230-68427231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559019392	chr6:68427231-68427232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565921065	chr6:68427302-68427303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528514665	chr6:68427364-68427365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377043646	chr6:68427378-68427379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191579822	chr6:68430814-68430815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573264141	chr6:68430860-68430861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534150022	chr6:68430883-68430884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57856606	chr6:68430884-68430885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182393714	chr6:68430967-68430968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536332483	chr6:68430984-68430985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112604593	chr6:68431000-68431001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576227823	chr6:68431001-68431002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552420911	chr6:68431026-68431027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144307767	chr6:68431068-68431069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111640716	chr6:68431138-68431139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113495917	chr6:68431167-68431168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187372470	chr6:68431188-68431189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540992424	chr6:68431204-68431205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560735994	chr6:68431221-68431222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9346062	chr6:68431222-68431223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114000063	chr6:68431239-68431240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549879795	chr6:68431257-68431258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141142057	chr6:68431271-68431272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570844194	chr6:68431350-68431351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59483936	chr6:68431353-68431354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs13212071	chr6:68431386-68431387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575219586	chr6:68432217-68432218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559299386	chr6:68432223-68432224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543414166	chr6:68432232-68432233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113899080	chr6:68432348-68432349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562694455	chr6:68432377-68432378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370318728	chr6:68432379-68432380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112527663	chr6:68432381-68432382	Weak transcription	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68426800-68427000	Active TSS	K562	blood
2	chr6:68426800-68427200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:68427000-68427200	Flanking Active TSS	K562	blood
4	chr6:68427200-68427400	Enhancers	K562	blood
5	chr6:68430800-68431400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:68432200-68432600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:68432600-68433200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:68432600-68433200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:68432600-68433400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:68432800-68433200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:68432800-68433400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:68433000-68433400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:68433200-68434800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:68443800-68444400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:68446200-68447400	Enhancers	HUVEC	blood vessel
16	chr6:68468600-68469000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:68468800-68469200	Active TSS	Fetal Heart	heart
18	chr6:68475600-68477000	Enhancers	HUVEC	blood vessel
19	chr6:68492200-68492600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:68492400-68492600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr6:68492600-68494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:68494000-68494200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:68500000-68500800	Enhancers	Fetal Brain Male	brain
24	chr6:68500600-68500800	ZNF genes & repeats	K562	blood
25	chr6:68500800-68502400	Weak transcription	K562	blood
26	chr6:68502400-68503200	Enhancers	K562	blood
27	chr6:68503200-68505400	Weak transcription	K562	blood
28	chr6:68505000-68506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:68505200-68506000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:68505200-68506000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:68505200-68506000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:68505200-68506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:68505400-68506400	Enhancers	K562	blood
34	chr6:68505600-68506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:68506400-68508800	Weak transcription	K562	blood
36	chr6:68508800-68509600	Enhancers	K562	blood
37	chr6:68525600-68526000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:68526000-68527000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:68527000-68527600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:68527400-68527600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:68527600-68538200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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