Variant report

Variant	esv3382940
Chromosome Location	chr10:1143197-1143611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1136192..1139242-chr10:1140283..1143968,3	K562	blood:
2	chr10:1142128..1144717-chr10:1147647..1149769,2	K562	blood:
3	chr10:1093871..1095811-chr10:1143055..1145161,2	MCF-7	breast:
4	chr10:1126400..1129196-chr10:1142070..1143936,2	MCF-7	breast:
5	chr10:1138483..1141096-chr10:1142458..1145457,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047056	chromatin interactions
ENSG00000067064	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537166643	chr10:1143210-1143211	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs67615426	chr10:1143212-1143213	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546905236	chr10:1143218-1143219	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547071349	chr10:1143232-1143233	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542459195	chr10:1143235-1143236	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535641456	chr10:1143248-1143249	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145542675	chr10:1143250-1143251	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116887570	chr10:1143254-1143255	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549506706	chr10:1143371-1143372	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs533234510	chr10:1143393-1143394	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543906182	chr10:1143434-1143435	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34034003	chr10:1143435-1143436	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs147730983	chr10:1143445-1143446	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142614095	chr10:1143473-1143474	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs74617243	chr10:1143531-1143532	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375690406	chr10:1143536-1143537	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551059047	chr10:1143558-1143559	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149860179	chr10:1143581-1143582	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1108600-1144600	Weak transcription	Fetal Heart	heart
2	chr10:1117800-1168600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:1118000-1156400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:1118000-1168400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:1118000-1173800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:1121400-1154400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr10:1122200-1168400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:1122600-1168800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:1123000-1168600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:1123200-1145200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:1123200-1145800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:1123200-1155200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr10:1123200-1155800	Strong transcription	Dnd41	blood
14	chr10:1123200-1178400	Strong transcription	Liver	Liver
15	chr10:1123400-1147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:1123400-1155400	Strong transcription	Placenta	Placenta
17	chr10:1123400-1177800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr10:1123800-1155600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:1123800-1156000	Strong transcription	Primary T cells from cord blood	blood
20	chr10:1124200-1178000	Strong transcription	Primary B cells from cord blood	blood
21	chr10:1124400-1155800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr10:1127800-1148200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:1127800-1153000	Strong transcription	Fetal Muscle Leg	muscle
24	chr10:1127800-1156200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:1127800-1179000	Strong transcription	Fetal Stomach	stomach
26	chr10:1128000-1155400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr10:1128000-1155400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:1128000-1156400	Strong transcription	Fetal Intestine Small	intestine
29	chr10:1128200-1156200	Strong transcription	Fetal Intestine Large	intestine
30	chr10:1128200-1156400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:1129400-1179000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr10:1129800-1144000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:1130000-1155800	Strong transcription	NHEK	skin
34	chr10:1133000-1148000	Strong transcription	Lung	lung
35	chr10:1133000-1151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:1133000-1155800	Weak transcription	A549	lung
37	chr10:1133200-1154400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:1135600-1148800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:1136000-1156400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:1137200-1149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:1137800-1148000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:1138600-1143600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr10:1138600-1155400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:1138600-1155800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:1138600-1162800	Strong transcription	Thymus	Thymus
46	chr10:1138600-1178600	Strong transcription	Adipose Nuclei	Adipose
47	chr10:1138800-1155400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:1138800-1159400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr10:1139000-1145400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr10:1139000-1146000	Strong transcription	HepG2	liver

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