Variant report

Variant	esv3359421
Chromosome Location	chr6:167338012-167340510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167339433..167341286-chr6:167346948..167348863,2	K562	blood:
2	chr6:167324476..167326634-chr6:167338829..167341348,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75220024	chr6:167338021-167338022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139090151	chr6:167338061-167338062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541678574	chr6:167338081-167338082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143458579	chr6:167338088-167338089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539951465	chr6:167338099-167338100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564709432	chr6:167338145-167338146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182840612	chr6:167338192-167338193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529452451	chr6:167338200-167338201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187963561	chr6:167338219-167338220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559344834	chr6:167338244-167338245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533630540	chr6:167338248-167338249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191545994	chr6:167338250-167338251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566824213	chr6:167338282-167338283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183742639	chr6:167338296-167338297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549200154	chr6:167338300-167338301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372418926	chr6:167338317-167338318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568274883	chr6:167338410-167338411	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535311966	chr6:167338418-167338419	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73041461	chr6:167338479-167338480	Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141024457	chr6:167338495-167338496	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372602667	chr6:167338514-167338515	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144896408	chr6:167338533-167338534	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564168422	chr6:167338593-167338594	Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78200817	chr6:167338617-167338618	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572744864	chr6:167338624-167338625	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371453004	chr6:167338636-167338637	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200070457	chr6:167338641-167338642	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544470758	chr6:167338670-167338671	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540360793	chr6:167338679-167338680	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148567496	chr6:167338683-167338684	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573649621	chr6:167338719-167338720	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544834042	chr6:167338724-167338725	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114155550	chr6:167338755-167338756	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533668647	chr6:167338772-167338773	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142922617	chr6:167338804-167338805	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560574269	chr6:167338827-167338828	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547234824	chr6:167338845-167338846	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527669323	chr6:167338857-167338858	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549331517	chr6:167338865-167338866	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151074034	chr6:167338882-167338883	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188069173	chr6:167338886-167338887	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550366164	chr6:167338893-167338894	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372505014	chr6:167338907-167338908	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568710667	chr6:167338925-167338926	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375811217	chr6:167338959-167338960	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140968987	chr6:167339001-167339002	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545505946	chr6:167339009-167339010	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566493548	chr6:167339023-167339024	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73041462	chr6:167339031-167339032	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555305808	chr6:167339091-167339092	Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	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
Pancreatic cancer	17952125	CNVD
Cancer	17440070	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167315800-167341600	Weak transcription	Pancreas	Pancrea
2	chr6:167318400-167343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:167318600-167342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:167321200-167340000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:167321600-167340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:167321800-167342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:167322000-167340200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:167322000-167340600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:167322000-167341600	Weak transcription	Gastric	stomach
10	chr6:167322400-167340000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:167322600-167340000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:167323400-167339200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:167326600-167340400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:167330600-167340200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:167330800-167340600	Weak transcription	HepG2	liver
16	chr6:167330800-167340800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:167331000-167340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:167332600-167341600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:167332800-167340200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:167332800-167342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:167333400-167340200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:167334000-167343600	Weak transcription	Fetal Brain Male	brain
23	chr6:167334200-167340200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:167335200-167340400	Weak transcription	Brain Germinal Matrix	brain
25	chr6:167335400-167340400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:167335400-167343800	Weak transcription	Right Atrium	heart
27	chr6:167335600-167338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:167335600-167346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:167335800-167338400	Weak transcription	Spleen	Spleen
30	chr6:167336400-167338400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:167336600-167339200	Weak transcription	Primary T cells from cord blood	blood
32	chr6:167336600-167340400	Weak transcription	Primary B cells from cord blood	blood
33	chr6:167336600-167342200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:167337200-167339000	Weak transcription	GM12878-XiMat	blood
35	chr6:167337200-167340200	Weak transcription	Left Ventricle	heart
36	chr6:167337200-167342400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:167337400-167340200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:167337400-167340200	Weak transcription	Fetal Thymus	thymus
39	chr6:167337400-167343000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:167337600-167339200	Weak transcription	Thymus	Thymus
41	chr6:167337600-167342200	Weak transcription	Colonic Mucosa	Colon
42	chr6:167337600-167350000	Weak transcription	Ovary	ovary
43	chr6:167337600-167363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:167337800-167340200	Weak transcription	Fetal Stomach	stomach
45	chr6:167337800-167340600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:167337800-167340600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:167338200-167340400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:167338200-167356000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:167338400-167339200	Genic enhancers	Spleen	Spleen
50	chr6:167338400-167339600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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