Variant report

Variant	esv2763549
Chromosome Location	chr6:37985025-38014006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37991053..37993262-chr6:37997611..38000343,2	K562	blood:
2	chr6:37983748..37986719-chr6:38000048..38002009,3	K562	blood:
3	chr6:38004599..38007314-chr6:38011024..38013903,2	K562	blood:
4	chr6:37786371..37788627-chr6:37999131..38001315,2	MCF-7	breast:
5	chr6:37990598..37992933-chr6:37993341..37995757,2	MCF-7	breast:
6	chr6:37988302..37990407-chr6:37992998..37995067,2	K562	blood:
7	chr6:37992041..37994793-chr6:38000953..38003289,2	K562	blood:
8	chr6:38005433..38007087-chr6:38019483..38021384,2	MCF-7	breast:
9	chr6:37991053..37993262-chr6:37997611..38000343,2	K562	blood:
10	chr6:38006995..38008635-chr6:38029863..38032307,2	K562	blood:
11	chr6:37992041..37994793-chr6:38000953..38003289,2	K562	blood:
12	chr6:37988302..37990407-chr6:37992998..37995067,2	K562	blood:
13	chr6:37786879..37788861-chr6:37985416..37988251,2	MCF-7	breast:
14	chr6:37990598..37992933-chr6:37993341..37995757,2	MCF-7	breast:
15	chr6:37786481..37789207-chr6:38000677..38002350,2	MCF-7	breast:
16	chr6:38004599..38007314-chr6:38011024..38013903,2	K562	blood:
17	chr6:37983748..37986719-chr6:38000048..38002009,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156639	chromatin interactions
ENSG00000225945	chromatin interactions

Extended variants
information (count: 1090 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9369029	chr6:37985025-37985026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545898896	chr6:37985078-37985079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559947080	chr6:37985131-37985132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368175590	chr6:37985171-37985172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528788516	chr6:37985186-37985187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553857476	chr6:37985205-37985206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535836501	chr6:37985224-37985225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139271514	chr6:37985262-37985263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72850897	chr6:37985357-37985358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529728452	chr6:37985365-37985366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549434189	chr6:37985380-37985381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569438177	chr6:37985412-37985413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74987919	chr6:37985430-37985431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150007030	chr6:37985526-37985527	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565955632	chr6:37985542-37985543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187484103	chr6:37985548-37985549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs192188642	chr6:37985601-37985602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574718441	chr6:37985631-37985632	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs537258601	chr6:37985648-37985649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576660190	chr6:37985676-37985677	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557462974	chr6:37985677-37985678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs577416933	chr6:37985707-37985708	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs182502450	chr6:37985709-37985710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559525792	chr6:37985742-37985743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs62396972	chr6:37985857-37985858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559106604	chr6:37985882-37985883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188348988	chr6:37985927-37985928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs60624986	chr6:37986027-37986028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192183186	chr6:37986074-37986075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562061774	chr6:37986089-37986090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540292880	chr6:37986090-37986091	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs530984488	chr6:37986105-37986106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184396223	chr6:37986142-37986143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs375346923	chr6:37986162-37986163	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs550767686	chr6:37986170-37986171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561948927	chr6:37986231-37986232	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs189276182	chr6:37986261-37986262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532149598	chr6:37986268-37986269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139613872	chr6:37986310-37986311	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565569206	chr6:37986387-37986388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs73417971	chr6:37986399-37986400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548469149	chr6:37986423-37986424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs73417972	chr6:37986430-37986431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537195984	chr6:37986463-37986464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112542172	chr6:37986473-37986474	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557199918	chr6:37986486-37986487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs577405326	chr6:37986487-37986488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7765798	chr6:37986489-37986490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs2842529	chr6:37986527-37986528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12660773	chr6:37986564-37986565	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37963000-37995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:37969200-37987800	Weak transcription	Fetal Kidney	kidney
3	chr6:37976600-37988400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:37976800-37987800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:37978200-37987600	Weak transcription	Pancreas	Pancrea
6	chr6:37979400-37989000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:37980000-37986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:37980600-37987800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:37981400-37989000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:37981400-37989000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:37981400-37990400	Weak transcription	Fetal Brain Female	brain
12	chr6:37982600-37985400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr6:37982600-37989400	Weak transcription	Psoas Muscle	Psoas
14	chr6:37983000-37985200	Enhancers	Brain Anterior Caudate	brain
15	chr6:37983000-37985400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:37983000-37994600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:37983400-37988400	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:37983400-37994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:37983600-37987600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:37983600-37988200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:37983800-37988400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:37984200-37985200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:37984200-37985400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:37984200-37988400	Weak transcription	Brain Substantia Nigra	brain
25	chr6:37984200-37989400	Enhancers	Liver	Liver
26	chr6:37984600-37985200	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:37984600-37985200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:37984600-37985200	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:37984600-37985200	Enhancers	GM12878-XiMat	blood
30	chr6:37984800-37985200	Enhancers	Gastric	stomach
31	chr6:37984800-37985200	Enhancers	Left Ventricle	heart
32	chr6:37984800-37985200	Enhancers	Ovary	ovary
33	chr6:37984800-37985200	Enhancers	Right Atrium	heart
34	chr6:37984800-37985200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:37984800-37985200	Enhancers	Stomach Smooth Muscle	stomach
36	chr6:37984800-37985800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr6:37984800-37987000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:37985000-37985200	Enhancers	Brain Angular Gyrus	brain
39	chr6:37985000-37985200	Enhancers	Colon Smooth Muscle	Colon
40	chr6:37985000-37985200	Enhancers	Lung	lung
41	chr6:37985000-37985200	Enhancers	Small Intestine	intestine
42	chr6:37985000-37985200	Enhancers	A549	lung
43	chr6:37985000-37985400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:37985000-37985600	Enhancers	K562	blood
45	chr6:37985000-37989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:37985000-37995600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:37985000-38002400	Weak transcription	Primary B cells from cord blood	blood
48	chr6:37985000-38030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:37985200-37985400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:37985200-37986200	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links