Variant report

Variant	esv3374271
Chromosome Location	chr10:1417002-1419800
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	chr10:1402501..1404466-chr10:1415279..1418172,2	K562	blood:
2	chr10:1401084..1403502-chr10:1416856..1418570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233052	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534127703	chr10:1417008-1417009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143304732	chr10:1417014-1417015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2820607	chr10:1417071-1417072	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12778109	chr10:1417123-1417124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546472807	chr10:1417146-1417147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113984498	chr10:1417168-1417169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78445734	chr10:1417169-1417170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77501192	chr10:1417174-1417175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576074743	chr10:1417179-1417180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541882854	chr10:1417223-1417224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561747698	chr10:1417238-1417239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148349741	chr10:1417264-1417265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540862253	chr10:1417273-1417274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112068728	chr10:1417276-1417277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71379118	chr10:1417293-1417294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142688647	chr10:1417321-1417322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376417078	chr10:1417355-1417356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138541647	chr10:1417387-1417388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577888349	chr10:1417398-1417399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369982968	chr10:1417404-1417405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111482706	chr10:1417410-1417411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531574089	chr10:1417428-1417429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543574839	chr10:1417429-1417430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192311880	chr10:1417434-1417435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143386974	chr10:1417453-1417454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12780481	chr10:1417530-1417531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11250484	chr10:1417599-1417600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74119855	chr10:1417613-1417614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76090958	chr10:1417651-1417652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576840775	chr10:1417658-1417659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372846937	chr10:1417719-1417720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11250485	chr10:1417738-1417739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184413273	chr10:1417765-1417766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs60592354	chr10:1417776-1417777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541088844	chr10:1417777-1417778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564050445	chr10:1417784-1417785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577395430	chr10:1417831-1417832	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61833602	chr10:1417847-1417848	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564368359	chr10:1417856-1417857	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569409003	chr10:1417926-1417927	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529197717	chr10:1417927-1417928	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548868347	chr10:1417929-1417930	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74644847	chr10:1417944-1417945	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550027859	chr10:1417946-1417947	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570084791	chr10:1417955-1417956	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527699547	chr10:1417959-1417960	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547839687	chr10:1417962-1417963	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2805505	chr10:1417970-1417971	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181314284	chr10:1417972-1417973	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550436169	chr10:1417974-1417975	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1404800-1419600	Weak transcription	Right Atrium	heart
2	chr10:1412200-1417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:1412200-1417800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:1412200-1418000	Weak transcription	Brain Substantia Nigra	brain
5	chr10:1412200-1420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:1412200-1421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:1412400-1417800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:1412400-1421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:1415800-1417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:1416000-1417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:1416600-1418000	Weak transcription	Fetal Kidney	kidney
12	chr10:1417000-1417400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:1417400-1417600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:1417400-1418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:1417400-1421800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:1417800-1418200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:1417800-1418200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:1417800-1418200	Enhancers	Gastric	stomach
19	chr10:1417800-1418400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:1417800-1418400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:1417800-1418400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr10:1417800-1418400	ZNF genes & repeats	Pancreas	Pancrea
23	chr10:1418000-1418200	Active TSS	Brain Substantia Nigra	brain
24	chr10:1418000-1418200	Bivalent Enhancer	Fetal Brain Male	brain
25	chr10:1418000-1418200	ZNF genes & repeats	Fetal Kidney	kidney
26	chr10:1418000-1418200	Bivalent/Poised TSS	Fetal Lung	lung
27	chr10:1418000-1418400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr10:1418200-1419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:1418200-1419600	Weak transcription	Fetal Kidney	kidney
30	chr10:1418200-1420200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:1418200-1421800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:1418400-1419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:1418400-1419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:1418400-1419600	Weak transcription	Pancreas	Pancrea
35	chr10:1418400-1420800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:1419200-1419800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:1419400-1420000	Enhancers	Fetal Intestine Large	intestine
38	chr10:1419400-1420000	Enhancers	Fetal Intestine Small	intestine
39	chr10:1419400-1420600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:1419600-1419800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:1419600-1419800	Bivalent Enhancer	Liver	Liver
42	chr10:1419600-1419800	Enhancers	Fetal Kidney	kidney
43	chr10:1419600-1420000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr10:1419600-1420000	Bivalent Enhancer	Fetal Brain Male	brain
45	chr10:1419600-1420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:1419600-1420600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr10:1419600-1420600	Enhancers	Pancreas	Pancrea
48	chr10:1419800-1420200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:1419800-1422200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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