Variant report

Variant	esv3438155
Chromosome Location	chr6:160718162-160722660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160716164..160718805-chr6:160722455..160725024,2	K562	blood:
2	chr6:160559270..160559911-chr6:160718121..160718859,2	MCF-7	breast:
3	chr6:160642201..160643043-chr6:160717927..160719056,3	MCF-7	breast:
4	chr6:160509107..160510028-chr6:160718406..160718959,2	MCF-7	breast:
5	chr6:160716164..160718805-chr6:160722455..160725024,2	K562	blood:

Extended variants
information (count: 253 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201033699	chr6:160718177-160718178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371126858	chr6:160718178-160718179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72241825	chr6:160718179-160718180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3030708	chr6:160718180-160718181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398110887	chr6:160718182-160718183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375388396	chr6:160718183-160718184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376325597	chr6:160718184-160718185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370721080	chr6:160718186-160718187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547872569	chr6:160718228-160718229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184553388	chr6:160718238-160718239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570947127	chr6:160718261-160718262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs409610	chr6:160718264-160718265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527317787	chr6:160718272-160718273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76210009	chr6:160718302-160718303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537712499	chr6:160718304-160718305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs429671	chr6:160718312-160718313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574046904	chr6:160718325-160718326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539849919	chr6:160718340-160718341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11968321	chr6:160718355-160718356	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs71565769	chr6:160718357-160718358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs649587	chr6:160718374-160718375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112842519	chr6:160718377-160718378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555935947	chr6:160718378-160718379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75097470	chr6:160718392-160718393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548553872	chr6:160718403-160718404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs190448002	chr6:160718423-160718424	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs569427074	chr6:160718424-160718425	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs528030744	chr6:160718450-160718451	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs180762618	chr6:160718458-160718459	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs386707800	chr6:160718467-160718468	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs180898046	chr6:160718468-160718469	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs144028496	chr6:160718469-160718470	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs71033574	chr6:160718494-160718495	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs570887384	chr6:160718499-160718500	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs539924894	chr6:160718500-160718501	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs550260852	chr6:160718529-160718530	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs650154	chr6:160718539-160718540	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538046132	chr6:160718546-160718547	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs191356637	chr6:160718574-160718575	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs574391351	chr6:160718631-160718632	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs533865136	chr6:160718634-160718635	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs3127582	chr6:160718644-160718645	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs471516	chr6:160718703-160718704	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545553178	chr6:160718706-160718707	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs471490	chr6:160718711-160718712	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3106165	chr6:160718756-160718757	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs606329	chr6:160718764-160718765	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs581031	chr6:160718770-160718771	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542005248	chr6:160718780-160718781	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs147266379	chr6:160718792-160718793	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160710400-160721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:160713400-160718600	Weak transcription	Aorta	Aorta
3	chr6:160715200-160718200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:160715200-160720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:160715400-160719000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:160715400-160720600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:160715400-160720600	Weak transcription	HMEC	breast
8	chr6:160715400-160720600	Weak transcription	NHEK	skin
9	chr6:160715400-160721800	Weak transcription	HSMMtube	muscle
10	chr6:160715600-160718800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:160715600-160720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:160718200-160718600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:160718400-160719400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr6:160718400-160723600	Enhancers	Fetal Muscle Leg	muscle
15	chr6:160718600-160719200	Enhancers	Aorta	Aorta
16	chr6:160718600-160719200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:160718600-160720800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:160718800-160719000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:160719000-160719200	Enhancers	Osteobl	bone
20	chr6:160719000-160719600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:160719000-160719800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:160719200-160719400	Flanking Active TSS	Osteobl	bone
23	chr6:160719200-160721400	Weak transcription	Aorta	Aorta
24	chr6:160719200-160721400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:160719400-160719600	Enhancers	Stomach Smooth Muscle	stomach
26	chr6:160719400-160719600	Active TSS	Osteobl	bone
27	chr6:160719600-160719800	Flanking Active TSS	Osteobl	bone
28	chr6:160719600-160720000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:160719800-160720000	Enhancers	Osteobl	bone
30	chr6:160719800-160722600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:160720000-160720200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:160720200-160720600	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:160720200-160721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:160720400-160720600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:160720400-160720800	Enhancers	Hela-S3	cervix
36	chr6:160720400-160721000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:160720400-160721800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr6:160720600-160720800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:160720600-160720800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:160720600-160720800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr6:160720600-160721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:160720600-160721000	Enhancers	NHEK	skin
43	chr6:160720600-160721200	Enhancers	Colonic Mucosa	Colon
44	chr6:160720600-160721200	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr6:160720600-160722000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:160720600-160722000	Enhancers	HMEC	breast
47	chr6:160720600-160722200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:160720600-160722400	Enhancers	Fetal Intestine Large	intestine
49	chr6:160720600-160722600	Enhancers	Esophagus	oesophagus
50	chr6:160720600-160723800	Enhancers	Fetal Intestine Small	intestine

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