Variant report

Variant	esv3314141
Chromosome Location	chr10:23700976-23708572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:23707420..23709381-chr10:23709579..23712222,2	MCF-7	breast:
2	chr10:23616493..23618340-chr10:23698443..23701341,2	MCF-7	breast:
3	chr10:23707659..23710608-chr10:23712696..23714287,2	MCF-7	breast:

Extended variants
information (count: 302 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:302 , 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	rs148575751	chr10:23700988-23700989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529841375	chr10:23700997-23700998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554564821	chr10:23701002-23701003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547842749	chr10:23701008-23701009	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373228565	chr10:23701017-23701018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539942403	chr10:23701019-23701020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142010927	chr10:23701020-23701021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532606296	chr10:23701038-23701039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537782587	chr10:23701052-23701053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147338584	chr10:23701053-23701054	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369197671	chr10:23701074-23701075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182531949	chr10:23701075-23701076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187270639	chr10:23701077-23701078	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532018599	chr10:23701085-23701086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs949636	chr10:23701100-23701101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140914353	chr10:23701153-23701154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144860654	chr10:23701181-23701182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200440472	chr10:23701196-23701197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190522879	chr10:23701229-23701230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570949141	chr10:23701237-23701238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536622089	chr10:23701300-23701301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566970932	chr10:23701335-23701336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538883529	chr10:23701400-23701401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558763304	chr10:23701505-23701506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568924237	chr10:23701572-23701573	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538162921	chr10:23701575-23701576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12248634	chr10:23701701-23701702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574383305	chr10:23701721-23701722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556456281	chr10:23701734-23701735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75833913	chr10:23701751-23701752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553495476	chr10:23701757-23701758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180902595	chr10:23701764-23701765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185161308	chr10:23701801-23701802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563116126	chr10:23701808-23701809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12247204	chr10:23701831-23701832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374667448	chr10:23701837-23701838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377524723	chr10:23701895-23701896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200379467	chr10:23701919-23701920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201096309	chr10:23701920-23701921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111976071	chr10:23701924-23701925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200172121	chr10:23701927-23701928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149656944	chr10:23701945-23701946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527727795	chr10:23701948-23701949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547810070	chr10:23701965-23701966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190415132	chr10:23701970-23701971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113348962	chr10:23702001-23702002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73602545	chr10:23702018-23702019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145465286	chr10:23702068-23702069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs569035669	chr10:23702084-23702085	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537601745	chr10:23702148-23702149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:37)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23689400-23701000	Weak transcription	Osteobl	bone
2	chr10:23693800-23706400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr10:23693800-23706400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr10:23694000-23701000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:23694600-23701400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:23694600-23707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:23697000-23706400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:23697600-23701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:23698400-23701200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:23700000-23702800	Weak transcription	Primary B cells from cord blood	blood
11	chr10:23700600-23703800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr10:23701000-23701200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr10:23701000-23701400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:23701000-23701600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:23701000-23701600	Enhancers	HSMM	muscle
16	chr10:23701000-23701600	Enhancers	HSMMtube	muscle
17	chr10:23701000-23701600	Enhancers	Osteobl	bone
18	chr10:23701000-23701800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:23701000-23703400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:23701200-23701400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr10:23701200-23701600	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:23701200-23701600	Enhancers	Hela-S3	cervix
23	chr10:23701200-23707800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:23701400-23701600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:23701400-23701600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:23701400-23701600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr10:23701400-23704200	Enhancers	GM12878-XiMat	blood
28	chr10:23701400-23706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:23701600-23702000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr10:23701600-23702000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr10:23701600-23707400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:23701600-23709600	Weak transcription	Hela-S3	cervix
33	chr10:23702000-23702400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr10:23702000-23703600	Enhancers	Primary B cells from peripheral blood	blood
35	chr10:23702200-23703400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:23702400-23703000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr10:23702800-23703400	Enhancers	Primary B cells from cord blood	blood
38	chr10:23703000-23703400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr10:23703400-23703800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr10:23704000-23704200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:23704200-23704400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:23704200-23705800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:23704400-23709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:23705800-23706600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr10:23705800-23706800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr10:23705800-23707000	Enhancers	Placenta	Placenta
47	chr10:23706200-23706600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:23706400-23706600	Enhancers	NHEK	skin
49	chr10:23706400-23707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr10:23706400-23708600	Enhancers	HUES6 Cell Line	embryonic stem cell

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