Variant report

Variant	esv2591679
Chromosome Location	chr6:57269261-57270669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577496595	chr6:57269261-57269262	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538570153	chr6:57269309-57269310	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553507388	chr6:57269331-57269332	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571920879	chr6:57269364-57269365	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542850455	chr6:57269368-57269369	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561224365	chr6:57269397-57269398	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs576509834	chr6:57269401-57269402	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2013268	chr6:57269405-57269406	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543437597	chr6:57269409-57269410	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs2013266	chr6:57269410-57269411	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565297387	chr6:57269422-57269423	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532825381	chr6:57269439-57269440	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145978520	chr6:57269443-57269444	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs148556179	chr6:57269451-57269452	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548110948	chr6:57269464-57269465	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs2013264	chr6:57269465-57269466	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559946440	chr6:57269480-57269481	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530307455	chr6:57269573-57269574	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548807924	chr6:57269575-57269576	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2013252	chr6:57269626-57269627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4506036	chr6:57269639-57269640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2397281	chr6:57269645-57269646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567225597	chr6:57269655-57269656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375606456	chr6:57269664-57269665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537978548	chr6:57269670-57269671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9475927	chr6:57269717-57269718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570916536	chr6:57269723-57269724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542055538	chr6:57269773-57269774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553644782	chr6:57269780-57269781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4377775	chr6:57269783-57269784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139736758	chr6:57269811-57269812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572057849	chr6:57269817-57269818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79120777	chr6:57269822-57269823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368916045	chr6:57269841-57269842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375961413	chr6:57269869-57269870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576425517	chr6:57269880-57269881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367582299	chr6:57269884-57269885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543917089	chr6:57269939-57269940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370624599	chr6:57269958-57269959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12205767	chr6:57269959-57269960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565231309	chr6:57269960-57269961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1029877	chr6:57269961-57269962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12205722	chr6:57270025-57270026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12205821	chr6:57270042-57270043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541477588	chr6:57270080-57270081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560082613	chr6:57270093-57270094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530441692	chr6:57270155-57270156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542040593	chr6:57270176-57270177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563920616	chr6:57270195-57270196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531263383	chr6:57270220-57270221	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57263600-57280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:57265000-57270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:57265000-57280600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:57265200-57271800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:57265200-57272400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:57266800-57271000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:57266800-57272400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:57266800-57272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:57266800-57272800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:57267000-57273400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:57267200-57269400	Weak transcription	Aorta	Aorta
12	chr6:57267200-57270800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:57267200-57272800	Weak transcription	Gastric	stomach
14	chr6:57267200-57272800	Weak transcription	Thymus	Thymus
15	chr6:57267200-57273000	Weak transcription	Fetal Stomach	stomach
16	chr6:57267200-57273000	Weak transcription	Pancreas	Pancrea
17	chr6:57267200-57276200	Weak transcription	Spleen	Spleen
18	chr6:57267400-57272800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:57267400-57275000	Weak transcription	Dnd41	blood
20	chr6:57267600-57271000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:57267600-57271800	Weak transcription	NH-A	brain
22	chr6:57267600-57280200	Weak transcription	GM12878-XiMat	blood
23	chr6:57268000-57273200	Weak transcription	Osteobl	bone
24	chr6:57268400-57288400	Weak transcription	NHLF	lung
25	chr6:57268600-57269600	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr6:57269000-57270200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:57269600-57270200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:57269600-57280400	Weak transcription	Psoas Muscle	Psoas
29	chr6:57269800-57270200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr6:57270200-57270600	Active TSS	Primary hematopoietic stem cells	blood
31	chr6:57270200-57271600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:57270200-57273000	Weak transcription	NHDF-Ad	bronchial
33	chr6:57270600-57272400	Weak transcription	Primary hematopoietic stem cells	blood

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