Variant report

Variant	esv1808159
Chromosome Location	chr6:167151463-167163093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
2	chr6:167146144..167148491-chr6:167149549..167153230,4	K562	blood:
3	chr6:167150380..167152971-chr6:167466714..167468496,2	K562	blood:
4	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
5	chr6:167146144..167148491-chr6:167149549..167152414,3	K562	blood:

Extended variants
information (count: 626 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7770200	chr6:167151463-167151464	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191323774	chr6:167151510-167151511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115876868	chr6:167151552-167151553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576190399	chr6:167151556-167151557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143916791	chr6:167151570-167151571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183238885	chr6:167151572-167151573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186823695	chr6:167151607-167151608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373820603	chr6:167151648-167151649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146870065	chr6:167151704-167151705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373298146	chr6:167151724-167151725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7754793	chr6:167151778-167151779	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7740311	chr6:167151804-167151805	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527523729	chr6:167151812-167151813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75525756	chr6:167151862-167151863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113952553	chr6:167151866-167151867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111264785	chr6:167151874-167151875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75879974	chr6:167151879-167151880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571221546	chr6:167151893-167151894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538739897	chr6:167151917-167151918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558432042	chr6:167151924-167151925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565627332	chr6:167151949-167151950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536882764	chr6:167151953-167151954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139700691	chr6:167151979-167151980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576693181	chr6:167151988-167151989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6456120	chr6:167151999-167152000	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189537700	chr6:167152007-167152008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576875803	chr6:167152011-167152012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541020036	chr6:167152021-167152022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559832304	chr6:167152026-167152027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540839352	chr6:167152064-167152065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530117425	chr6:167152081-167152082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10484521	chr6:167152089-167152090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574266232	chr6:167152172-167152173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531646076	chr6:167152179-167152180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544748992	chr6:167152255-167152256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550053178	chr6:167152294-167152295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117081620	chr6:167152311-167152312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532184146	chr6:167152338-167152339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547398597	chr6:167152367-167152368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34939928	chr6:167152371-167152372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183272842	chr6:167152374-167152375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371524519	chr6:167152405-167152406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535936214	chr6:167152419-167152420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555158391	chr6:167152423-167152424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187600605	chr6:167152447-167152448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142944090	chr6:167152468-167152469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558864531	chr6:167152491-167152492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374548037	chr6:167152509-167152510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6456121	chr6:167152526-167152527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9366050	chr6:167152592-167152593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167136600-167157600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:167142800-167153000	Weak transcription	Lung	lung
3	chr6:167142800-167156600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:167143200-167152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:167146400-167151800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:167147600-167153200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:167147800-167153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:167149400-167153000	Weak transcription	Gastric	stomach
9	chr6:167149600-167153400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:167149600-167153800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:167149600-167154000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:167149800-167152200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:167149800-167152200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:167149800-167152600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:167149800-167153800	Enhancers	NHEK	skin
16	chr6:167149800-167155400	Enhancers	Fetal Stomach	stomach
17	chr6:167150000-167152200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:167150000-167152200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:167150400-167152800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:167150400-167153400	Weak transcription	HSMMtube	muscle
21	chr6:167150600-167152200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:167150600-167153000	Weak transcription	Placenta	Placenta
23	chr6:167150600-167157000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:167150800-167152200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:167151000-167152400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:167151200-167151600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:167151200-167151600	Weak transcription	HSMM	muscle
28	chr6:167151400-167151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:167151400-167152200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:167151600-167152400	Enhancers	HSMM	muscle
31	chr6:167151600-167153600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr6:167151800-167152000	Enhancers	Colon Smooth Muscle	Colon
33	chr6:167151800-167152000	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:167151800-167152400	Enhancers	Fetal Muscle Leg	muscle
35	chr6:167151800-167152800	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:167151800-167153600	Enhancers	Rectal Smooth Muscle	rectum
37	chr6:167151800-167153800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:167152000-167152200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:167152000-167152200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:167152000-167152600	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:167152000-167153000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:167152200-167152400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:167152200-167153000	Weak transcription	Small Intestine	intestine
44	chr6:167152200-167153200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:167152200-167154600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:167152200-167155800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:167152200-167156000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:167152200-167157200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:167152400-167152800	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:167152400-167152800	Weak transcription	HSMM	muscle

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