Variant report

Variant	esv3415377
Chromosome Location	chr10:6220301-6220720
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6205792..6207491-chr10:6220254..6222481,2	MCF-7	breast:
2	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
3	chr10:6209809..6221866-chr10:6241112..6247882,17	MCF-7	breast:
4	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
5	chr10:6219224..6221919-chr10:6233756..6235338,2	K562	blood:
6	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
7	chr10:6210751..6212790-chr10:6219914..6222242,2	K562	blood:
8	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
9	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:
10	chr10:6208646..6210405-chr10:6219404..6221992,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146857821	chr10:6220317-6220318	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369769427	chr10:6220319-6220320	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556689109	chr10:6220323-6220324	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs674430	chr10:6220360-6220361	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539093404	chr10:6220368-6220369	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs386740421	chr10:6220387-6220388	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs674399	chr10:6220388-6220389	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573632420	chr10:6220401-6220402	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375494845	chr10:6220403-6220404	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544082296	chr10:6220404-6220405	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543023143	chr10:6220434-6220435	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187418585	chr10:6220437-6220438	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs584826	chr10:6220475-6220476	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs200114538	chr10:6220492-6220493	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568821209	chr10:6220496-6220497	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs562659304	chr10:6220506-6220507	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35054190	chr10:6220513-6220514	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551102895	chr10:6220516-6220517	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147094742	chr10:6220532-6220533	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs55912995	chr10:6220533-6220534	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs397791332	chr10:6220536-6220537	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560336028	chr10:6220558-6220559	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs73614042	chr10:6220578-6220579	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567883055	chr10:6220594-6220595	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570341143	chr10:6220599-6220600	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538650518	chr10:6220622-6220623	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190210289	chr10:6220631-6220632	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571909898	chr10:6220633-6220634	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181869027	chr10:6220634-6220635	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs34836742	chr10:6220653-6220654	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572556560	chr10:6220692-6220693	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185390152	chr10:6220699-6220700	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6188400-6225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
3	chr10:6209400-6224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:6210200-6220800	Enhancers	Left Ventricle	heart
5	chr10:6211000-6221800	Enhancers	Adipose Nuclei	Adipose
6	chr10:6211200-6221600	Enhancers	Psoas Muscle	Psoas
7	chr10:6212400-6224600	Weak transcription	Dnd41	blood
8	chr10:6213000-6221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:6214200-6239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr10:6214400-6222600	Enhancers	Brain Hippocampus Middle	brain
11	chr10:6214400-6224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr10:6214400-6224400	Weak transcription	HSMMtube	muscle
13	chr10:6215000-6237200	Weak transcription	Primary B cells from cord blood	blood
14	chr10:6215200-6224600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:6215400-6223200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr10:6215600-6221000	Weak transcription	Colonic Mucosa	Colon
17	chr10:6216200-6237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:6216400-6220800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:6216600-6221800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr10:6216600-6230000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr10:6217200-6220400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:6217200-6221600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:6217400-6224000	Weak transcription	Liver	Liver
24	chr10:6217800-6220600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr10:6218000-6220800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:6218000-6221200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr10:6218200-6221800	Enhancers	Right Ventricle	heart
28	chr10:6218200-6224200	Weak transcription	A549	lung
29	chr10:6218400-6220600	Enhancers	Fetal Muscle Leg	muscle
30	chr10:6218400-6220600	Enhancers	Placenta	Placenta
31	chr10:6218400-6220800	Enhancers	Lung	lung
32	chr10:6218600-6220400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr10:6218600-6220400	Weak transcription	Fetal Intestine Small	intestine
34	chr10:6218600-6224200	Weak transcription	Gastric	stomach
35	chr10:6218800-6220400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr10:6218800-6227800	Weak transcription	NHDF-Ad	bronchial
37	chr10:6219000-6220400	Enhancers	Pancreas	Pancrea
38	chr10:6219000-6221000	Weak transcription	Brain Anterior Caudate	brain
39	chr10:6219000-6221000	Weak transcription	Brain Substantia Nigra	brain
40	chr10:6219000-6221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr10:6219000-6224600	Weak transcription	Aorta	Aorta
42	chr10:6219000-6224600	Weak transcription	Small Intestine	intestine
43	chr10:6219000-6240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:6219200-6220800	Weak transcription	Colon Smooth Muscle	Colon
45	chr10:6219200-6220800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr10:6219200-6221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:6219200-6221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:6219200-6221400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr10:6219200-6221800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:6219200-6223200	Weak transcription	Fetal Thymus	thymus

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