Variant report

Variant	esv3320629
Chromosome Location	chr10:1084513-1085202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1083077..1085466-chr10:1096305..1099633,3	MCF-7	breast:
2	chr10:1082418..1085956-chr10:1093172..1097957,6	MCF-7	breast:
3	chr10:1071929..1076596-chr10:1081976..1085253,4	K562	blood:
4	chr10:1080311..1084643-chr10:1093225..1095856,7	MCF-7	breast:
5	chr10:1082336..1085683-chr10:1088908..1090721,3	MCF-7	breast:
6	chr10:1082960..1085323-chr10:1085566..1087572,2	MCF-7	breast:
7	chr10:1038435..1041115-chr10:1083089..1086536,3	K562	blood:
8	chr10:989792..992480-chr10:1084980..1087131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047056	chromatin interactions
ENSG00000067064	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190922730	chr10:1084525-1084526	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115387472	chr10:1084572-1084573	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569573132	chr10:1084592-1084593	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138206178	chr10:1084608-1084609	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142956882	chr10:1084613-1084614	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147454501	chr10:1084621-1084622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138340840	chr10:1084628-1084629	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183049049	chr10:1084637-1084638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368921833	chr10:1084670-1084671	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs577216543	chr10:1084671-1084672	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545797249	chr10:1084676-1084677	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562503231	chr10:1084684-1084685	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112884771	chr10:1084690-1084691	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111071193	chr10:1084691-1084692	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113672859	chr10:1084693-1084694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575184998	chr10:1084694-1084695	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544073889	chr10:1084695-1084696	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs111827895	chr10:1084702-1084703	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371887472	chr10:1084709-1084710	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112520426	chr10:1084721-1084722	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs55888306	chr10:1084730-1084731	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78752440	chr10:1084733-1084734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs113753726	chr10:1084739-1084740	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs71491335	chr10:1084756-1084757	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71491336	chr10:1084765-1084766	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76895539	chr10:1084784-1084785	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11250233	chr10:1084788-1084789	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112724691	chr10:1084796-1084797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs12765556	chr10:1084797-1084798	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12765694	chr10:1084802-1084803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12765698	chr10:1084810-1084811	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12767876	chr10:1084817-1084818	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11250234	chr10:1084819-1084820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11250235	chr10:1084828-1084829	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529883229	chr10:1084835-1084836	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs11250236	chr10:1084847-1084848	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539993939	chr10:1084850-1084851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs61830994	chr10:1084851-1084852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113089812	chr10:1084859-1084860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12773060	chr10:1084882-1084883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11250237	chr10:1084891-1084892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs34046228	chr10:1084910-1084911	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572895200	chr10:1084922-1084923	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552209462	chr10:1084925-1084926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568833948	chr10:1084929-1084930	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532063236	chr10:1084939-1084940	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs55924373	chr10:1084942-1084943	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34010314	chr10:1084945-1084946	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113644510	chr10:1084953-1084954	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs376502582	chr10:1084954-1084955	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1060000-1091600	Weak transcription	Hela-S3	cervix
3	chr10:1063200-1092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:1063600-1088200	Weak transcription	Fetal Brain Male	brain
5	chr10:1064000-1088400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:1065200-1084800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr10:1065600-1086000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:1065600-1086200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr10:1065800-1086200	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:1065800-1087800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:1066000-1086000	Weak transcription	HSMMtube	muscle
12	chr10:1066200-1085200	Weak transcription	HUVEC	blood vessel
13	chr10:1066200-1086000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:1066200-1086200	Weak transcription	Fetal Kidney	kidney
15	chr10:1066600-1088200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:1066800-1085000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:1066800-1085200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:1066800-1085600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:1066800-1085800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:1067000-1085200	Weak transcription	HSMM	muscle
21	chr10:1067200-1086200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:1067400-1089400	Weak transcription	Pancreas	Pancrea
23	chr10:1070800-1085800	Weak transcription	Osteobl	bone
24	chr10:1073400-1091800	Weak transcription	Fetal Heart	heart
25	chr10:1076600-1086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:1079800-1087800	Weak transcription	Ovary	ovary
27	chr10:1080200-1086200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:1081600-1085000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:1081600-1089600	Weak transcription	Psoas Muscle	Psoas
30	chr10:1081800-1085200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:1081800-1086200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:1081800-1086200	Weak transcription	HepG2	liver
33	chr10:1081800-1089200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:1082000-1089800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr10:1082200-1086800	Strong transcription	Primary T cells from cord blood	blood
36	chr10:1082200-1086800	Strong transcription	Fetal Brain Female	brain
37	chr10:1082400-1085000	Strong transcription	Lung	lung
38	chr10:1082400-1085200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:1082400-1085200	Strong transcription	Fetal Stomach	stomach
40	chr10:1082400-1086800	Strong transcription	Fetal Muscle Leg	muscle
41	chr10:1082400-1088800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:1082400-1089000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:1082400-1089800	Strong transcription	Brain Germinal Matrix	brain
44	chr10:1082400-1090200	Strong transcription	Fetal Intestine Large	intestine
45	chr10:1082600-1085200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:1082600-1085200	Strong transcription	Spleen	Spleen
47	chr10:1082600-1086200	Weak transcription	K562	blood
48	chr10:1082600-1087400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr10:1082600-1089400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:1082600-1089400	Strong transcription	Rectal Mucosa Donor 31	rectum

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