Variant report

Variant	esv3339238
Chromosome Location	chr10:461752-466050
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:414936..417865-chr10:461204..463108,2	MCF-7	breast:
2	chr10:461373..464644-chr10:474177..477326,3	MCF-7	breast:
3	chr10:454564..456430-chr10:464308..466702,2	MCF-7	breast:
4	chr10:415244..418215-chr10:463219..466142,2	MCF-7	breast:
5	chr10:461634..462240-chr10:481924..482823,2	MCF-7	breast:
6	chr10:461824..462560-chr10:834643..835579,2	MCF-7	breast:
7	chr10:460205..463295-chr10:478508..482551,4	MCF-7	breast:
8	chr10:461858..462407-chr10:481646..482609,2	MCF-7	breast:
9	chr10:461779..462665-chr10:840464..841138,2	MCF-7	breast:
10	chr10:460256..464183-chr10:464558..467613,6	MCF-7	breast:
11	chr10:460256..464183-chr10:464558..467613,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239822	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370301870	chr10:461764-461765	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374768497	chr10:461845-461846	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201553915	chr10:461847-461848	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567707313	chr10:461848-461849	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372738375	chr10:461861-461862	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553596369	chr10:461876-461877	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371035835	chr10:461884-461885	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576838359	chr10:461907-461908	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185416020	chr10:461910-461911	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201760090	chr10:461912-461913	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs66682704	chr10:461913-461914	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188324092	chr10:461914-461915	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548194769	chr10:461920-461921	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs180836864	chr10:461921-461922	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186277033	chr10:461930-461931	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112425121	chr10:461942-461943	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562109656	chr10:461956-461957	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192125662	chr10:461966-461967	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111430207	chr10:461983-461984	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377373004	chr10:461988-461989	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11252290	chr10:461989-461990	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533437412	chr10:461993-461994	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376005357	chr10:461996-461997	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552114177	chr10:462010-462011	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562326795	chr10:462014-462015	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547411388	chr10:462016-462017	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531539311	chr10:462031-462032	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548083304	chr10:462032-462033	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567974606	chr10:462044-462045	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570614103	chr10:462045-462046	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113830365	chr10:462072-462073	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371827811	chr10:462132-462133	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11594780	chr10:462133-462134	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570484028	chr10:462163-462164	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368092846	chr10:462187-462188	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549853341	chr10:462206-462207	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112330356	chr10:462230-462231	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367689338	chr10:462235-462236	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535404925	chr10:462269-462270	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146870936	chr10:462286-462287	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375424603	chr10:462293-462294	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10904172	chr10:462298-462299	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181788571	chr10:462302-462303	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536005191	chr10:462318-462319	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373405819	chr10:462347-462348	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556104144	chr10:462376-462377	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139264062	chr10:462386-462387	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541086876	chr10:462411-462412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558110520	chr10:462414-462415	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141502583	chr10:462416-462417	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
2	chr10:421600-461800	Weak transcription	A549	lung
3	chr10:423600-480200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr10:436600-480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr10:436600-521200	Weak transcription	HepG2	liver
6	chr10:436800-468000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:436800-469000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:441000-461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:441600-466600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
11	chr10:444200-466000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:448200-462200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:449600-469200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr10:450600-469800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:450600-469800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:451200-461800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:452000-466200	Strong transcription	Osteobl	bone
19	chr10:453200-462200	Strong transcription	Liver	Liver
20	chr10:453400-485600	Weak transcription	Fetal Kidney	kidney
21	chr10:453600-468200	Weak transcription	Spleen	Spleen
22	chr10:453600-468400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:453600-469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:454200-462800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr10:454200-469800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:454800-465800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr10:455000-461800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:455000-471800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:455000-480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr10:455800-465200	Weak transcription	Pancreas	Pancrea
31	chr10:455800-468000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr10:456000-461800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:456000-496600	Weak transcription	Fetal Heart	heart
34	chr10:456200-483200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:456600-469800	Strong transcription	Fetal Stomach	stomach
36	chr10:457600-466600	Strong transcription	Ovary	ovary
37	chr10:458000-469800	Strong transcription	Adipose Nuclei	Adipose
38	chr10:458200-464400	Weak transcription	NHDF-Ad	bronchial
39	chr10:458400-462400	Strong transcription	Right Ventricle	heart
40	chr10:458400-468800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:458800-463400	Strong transcription	Brain Germinal Matrix	brain
42	chr10:458800-464400	Weak transcription	Fetal Brain Male	brain
43	chr10:458800-469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:458800-470800	Weak transcription	HSMM	muscle
45	chr10:458800-471200	Weak transcription	NH-A	brain
46	chr10:459000-462200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:459000-462400	Strong transcription	Fetal Lung	lung
48	chr10:459000-463600	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr10:459200-462000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:459200-470000	Weak transcription	Small Intestine	intestine

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