Variant report

Variant	esv3372800
Chromosome Location	chr10:1138652-1143250
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1093871..1095811-chr10:1143055..1145161,2	MCF-7	breast:
2	chr10:1127362..1131200-chr10:1136115..1140089,4	MCF-7	breast:
3	chr10:1142128..1144717-chr10:1147647..1149769,2	K562	blood:
4	chr10:1136192..1139242-chr10:1140283..1143968,3	K562	blood:
5	chr10:1126400..1129196-chr10:1142070..1143936,2	MCF-7	breast:
6	chr10:1137427..1142070-chr10:1143618..1146472,4	K562	blood:
7	chr10:1136192..1139242-chr10:1140283..1143968,3	K562	blood:
8	chr10:1138483..1141096-chr10:1142458..1145457,2	MCF-7	breast:
9	chr10:1138483..1141096-chr10:1142458..1145457,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTPBP4-6	chr10:1141224-1141684	NONHSAT010900
2	lnc-GTPBP4-6	chr10:1140725-1140756	NONHSAT010900

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	WDR37	hsa-miR-200a-3p	chr10:1142280-1142301
2	WDR37	hsa-miR-141-3p	chr10:1142280-1142301

Variant related genes	Relation type
ENSG00000047056	chromatin interactions
ENSG00000067064	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568442732	chr10:1138654-1138655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7921173	chr10:1138765-1138766	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190555937	chr10:1138802-1138803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12762716	chr10:1138811-1138812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61444639	chr10:1138838-1138839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201489736	chr10:1138839-1138840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111749049	chr10:1138858-1138859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372671567	chr10:1138902-1138903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34559563	chr10:1138943-1138944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552045924	chr10:1138957-1138958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544625294	chr10:1138959-1138960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570609349	chr10:1139061-1139062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571832701	chr10:1139067-1139068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531262689	chr10:1139068-1139069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550278192	chr10:1139109-1139110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564804034	chr10:1139114-1139115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567268422	chr10:1139146-1139147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112725047	chr10:1139154-1139155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10159718	chr10:1139183-1139184	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs556393130	chr10:1139187-1139188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552650998	chr10:1139218-1139219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576353460	chr10:1139245-1139246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541883095	chr10:1139256-1139257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555681377	chr10:1139318-1139319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538435051	chr10:1139327-1139328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558360905	chr10:1139362-1139363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200292290	chr10:1139372-1139373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141774422	chr10:1139440-1139441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370081944	chr10:1139451-1139452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199775518	chr10:1139465-1139466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373428241	chr10:1139470-1139471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573982304	chr10:1139508-1139509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147101860	chr10:1139510-1139511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559878999	chr10:1139511-1139512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116674995	chr10:1139568-1139569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147747460	chr10:1139598-1139599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529382073	chr10:1139602-1139603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142664072	chr10:1139628-1139629	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115440872	chr10:1139658-1139659	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117645275	chr10:1139668-1139669	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10751790	chr10:1139711-1139712	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs367654403	chr10:1139731-1139732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371791486	chr10:1139732-1139733	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143024836	chr10:1139807-1139808	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538371417	chr10:1139820-1139821	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186218882	chr10:1139824-1139825	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10903366	chr10:1139825-1139826	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537704554	chr10:1139830-1139831	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190691757	chr10:1139837-1139838	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574683900	chr10:1139845-1139846	Weak transcription Strong transcription Genic enhancers	n/a	n/a	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:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1108600-1142400	Weak transcription	Stomach Mucosa	stomach
2	chr10:1108600-1144600	Weak transcription	Fetal Heart	heart
3	chr10:1117400-1141400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:1117800-1168600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:1118000-1156400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:1118000-1168400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr10:1118000-1173800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:1121400-1154400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr10:1122200-1168400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:1122600-1168800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:1123000-1168600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:1123200-1145200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:1123200-1145800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:1123200-1155200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:1123200-1155800	Strong transcription	Dnd41	blood
16	chr10:1123200-1178400	Strong transcription	Liver	Liver
17	chr10:1123400-1147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:1123400-1155400	Strong transcription	Placenta	Placenta
19	chr10:1123400-1177800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr10:1123800-1155600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:1123800-1156000	Strong transcription	Primary T cells from cord blood	blood
22	chr10:1124200-1178000	Strong transcription	Primary B cells from cord blood	blood
23	chr10:1124400-1155800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr10:1127800-1148200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:1127800-1153000	Strong transcription	Fetal Muscle Leg	muscle
26	chr10:1127800-1156200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:1127800-1179000	Strong transcription	Fetal Stomach	stomach
28	chr10:1128000-1138800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr10:1128000-1155400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr10:1128000-1155400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:1128000-1156400	Strong transcription	Fetal Intestine Small	intestine
32	chr10:1128200-1156200	Strong transcription	Fetal Intestine Large	intestine
33	chr10:1128200-1156400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:1129400-1179000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:1129800-1144000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr10:1130000-1155800	Strong transcription	NHEK	skin
37	chr10:1130800-1138800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:1133000-1139600	Weak transcription	Psoas Muscle	Psoas
39	chr10:1133000-1148000	Strong transcription	Lung	lung
40	chr10:1133000-1151200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:1133000-1155800	Weak transcription	A549	lung
42	chr10:1133200-1141000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr10:1133200-1154400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:1133600-1139400	Weak transcription	NHDF-Ad	bronchial
45	chr10:1134000-1139000	Weak transcription	HSMM	muscle
46	chr10:1134000-1139400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr10:1134600-1139600	Weak transcription	Fetal Kidney	kidney
48	chr10:1135000-1142000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr10:1135400-1139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:1135600-1148800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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