Variant report

Variant	esv15643
Chromosome Location	chr6:167149339-167150785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167150380..167152971-chr6:167466714..167468496,2	K562	blood:
2	chr6:167146144..167148491-chr6:167149549..167153230,4	K562	blood:
3	chr6:167099352..167102037-chr6:167146508..167149347,2	MCF-7	breast:
4	chr6:167041071..167042766-chr6:167149110..167150856,2	MCF-7	breast:
5	chr6:167146144..167148491-chr6:167149549..167152414,3	K562	blood:

Variant related genes	Relation type
ENSG00000071242	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150435421	chr6:167149355-167149356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368163132	chr6:167149446-167149447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553214372	chr6:167149524-167149525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189456742	chr6:167149533-167149534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79616963	chr6:167149534-167149535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563476391	chr6:167149536-167149537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539849468	chr6:167149550-167149551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11964156	chr6:167149574-167149575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531068160	chr6:167149581-167149582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78552798	chr6:167149605-167149606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565929700	chr6:167149635-167149636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528187356	chr6:167149649-167149650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546247150	chr6:167149661-167149662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562309339	chr6:167149732-167149733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529506999	chr6:167149739-167149740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373662259	chr6:167149746-167149747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149162087	chr6:167149808-167149809	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76954008	chr6:167149818-167149819	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10484523	chr6:167149823-167149824	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551816620	chr6:167149847-167149848	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545704580	chr6:167149848-167149849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58753235	chr6:167149849-167149850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143261094	chr6:167149873-167149874	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567739959	chr6:167149898-167149899	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576124476	chr6:167149917-167149918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535324317	chr6:167149918-167149919	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374985348	chr6:167149924-167149925	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139012712	chr6:167149932-167149933	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181193503	chr6:167149997-167149998	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6932950	chr6:167150023-167150024	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557338695	chr6:167150024-167150025	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562119670	chr6:167150064-167150065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568459582	chr6:167150072-167150073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143765525	chr6:167150077-167150078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs16899351	chr6:167150161-167150162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77786671	chr6:167150183-167150184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79487793	chr6:167150186-167150187	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78889252	chr6:167150188-167150189	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563066432	chr6:167150190-167150191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533679022	chr6:167150219-167150220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114585457	chr6:167150223-167150224	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567169496	chr6:167150251-167150252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185436068	chr6:167150275-167150276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188242386	chr6:167150328-167150329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377467925	chr6:167150416-167150417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115510230	chr6:167150426-167150427	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556892273	chr6:167150474-167150475	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs58508312	chr6:167150485-167150486	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374401518	chr6:167150508-167150509	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78502998	chr6:167150527-167150528	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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:56 , 50 per page) page: 1 2

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	chr6:167143000-167150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:167143200-167152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:167146400-167151800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:167147600-167153200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:167147800-167149800	Weak transcription	NHEK	skin
9	chr6:167147800-167150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:167147800-167153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:167148000-167149600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:167148000-167149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:167148000-167149800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:167148200-167149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:167148200-167149800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:167149200-167149400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:167149200-167149400	Enhancers	Gastric	stomach
18	chr6:167149400-167149800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:167149400-167153000	Weak transcription	Gastric	stomach
20	chr6:167149600-167151200	Enhancers	HUVEC	blood vessel
21	chr6:167149600-167153400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:167149600-167153800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:167149600-167154000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:167149800-167150000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr6:167149800-167150400	Enhancers	HSMMtube	muscle
26	chr6:167149800-167150600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:167149800-167151000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:167149800-167151200	Enhancers	HSMM	muscle
29	chr6:167149800-167151200	Enhancers	NH-A	brain
30	chr6:167149800-167151400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:167149800-167152200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:167149800-167152200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:167149800-167152600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:167149800-167153800	Enhancers	NHEK	skin
35	chr6:167149800-167155400	Enhancers	Fetal Stomach	stomach
36	chr6:167150000-167150400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:167150000-167151000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:167150000-167151000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:167150000-167152200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:167150000-167152200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:167150200-167150400	Enhancers	Placenta	Placenta
42	chr6:167150200-167150600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:167150200-167150800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:167150200-167151000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:167150200-167151000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:167150200-167151200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:167150400-167150600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:167150400-167150600	Enhancers	Small Intestine	intestine
49	chr6:167150400-167152800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:167150400-167153400	Weak transcription	HSMMtube	muscle

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