Variant report

Variant	esv2762838
Chromosome Location	chr10:4048172-4054844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:3828808..3830704-chr10:4048234..4051137,2	K562	blood:
2	chr10:4044243..4046356-chr10:4047732..4050540,2	K562	blood:
3	chr10:3826897..3830024-chr10:4047039..4050070,3	MCF-7	breast:
4	chr10:4033038..4035394-chr10:4049800..4051958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 313 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7076596	chr10:4048172-4048173	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146178498	chr10:4048220-4048221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61829225	chr10:4048222-4048223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112400864	chr10:4048248-4048249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528815585	chr10:4048272-4048273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567896617	chr10:4048273-4048274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543818000	chr10:4048289-4048290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562574013	chr10:4048348-4048349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535385954	chr10:4048366-4048367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7076939	chr10:4048367-4048368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187589382	chr10:4048392-4048393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566589934	chr10:4048443-4048444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192023614	chr10:4048450-4048451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549252251	chr10:4048470-4048471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111553073	chr10:4048519-4048520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7073584	chr10:4048528-4048529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs556624049	chr10:4048570-4048571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571699734	chr10:4048590-4048591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370238583	chr10:4048599-4048600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373209662	chr10:4048630-4048631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72774737	chr10:4048634-4048635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34210637	chr10:4048636-4048637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200084093	chr10:4048638-4048639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201260032	chr10:4048639-4048640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34321345	chr10:4048640-4048641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371923865	chr10:4048641-4048642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79196439	chr10:4048656-4048657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562578107	chr10:4048699-4048700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554343753	chr10:4048700-4048701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185731036	chr10:4048751-4048752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188591707	chr10:4048774-4048775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554805386	chr10:4048779-4048780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386740193	chr10:4048784-4048785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs6601794	chr10:4048785-4048786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557818027	chr10:4048812-4048813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193251055	chr10:4048831-4048832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146440125	chr10:4048856-4048857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11252259	chr10:4048857-4048858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9888070	chr10:4048875-4048876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184523630	chr10:4048880-4048881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12268701	chr10:4048897-4048898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561146329	chr10:4048987-4048988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531671692	chr10:4049012-4049013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550191528	chr10:4049028-4049029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369791700	chr10:4049040-4049041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188103850	chr10:4049051-4049052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145676392	chr10:4049078-4049079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs117741437	chr10:4049104-4049105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35938351	chr10:4049105-4049106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148897727	chr10:4049111-4049112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4043400-4055800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4047400-4049400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:4047400-4051800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:4047400-4055800	Weak transcription	Psoas Muscle	Psoas
5	chr10:4047400-4058400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:4047600-4048800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:4047600-4049000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:4047600-4049000	Enhancers	Stomach Smooth Muscle	stomach
9	chr10:4047800-4048600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:4047800-4048600	Enhancers	Colon Smooth Muscle	Colon
11	chr10:4047800-4049000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr10:4047800-4050200	Enhancers	Placenta	Placenta
13	chr10:4048000-4048200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:4048000-4048400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr10:4048000-4048600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:4048200-4048600	Enhancers	Primary B cells from peripheral blood	blood
17	chr10:4048200-4049200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:4048400-4048800	Enhancers	Primary T cells from cord blood	blood
19	chr10:4049200-4049800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:4049400-4051600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:4049800-4050200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:4049800-4051000	Weak transcription	Fetal Heart	heart
23	chr10:4050200-4050800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:4050800-4053200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:4051000-4052200	Enhancers	Fetal Heart	heart
26	chr10:4051400-4052600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:4051600-4051800	Enhancers	Fetal Muscle Leg	muscle
28	chr10:4051600-4053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:4051800-4052000	Enhancers	Fetal Muscle Trunk	muscle
30	chr10:4051800-4055800	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:4052000-4054400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr10:4052200-4056000	Weak transcription	Fetal Heart	heart
33	chr10:4052600-4056000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:4053000-4053400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr10:4053200-4053600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr10:4053200-4053600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:4053200-4053600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr10:4053200-4053600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:4053200-4053600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:4053200-4053600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:4053200-4053600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:4053400-4053600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr10:4053800-4054000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:4054000-4055000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:4054400-4054600	Enhancers	Fetal Muscle Trunk	muscle
46	chr10:4054600-4056000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr10:4054800-4055000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:4054800-4055200	Enhancers	Primary T cells from cord blood	blood
49	chr10:4054800-4055200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr10:4054800-4055400	Enhancers	Dnd41	blood

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