Variant report

Variant	esv3450123
Chromosome Location	chr10:26998296-27000594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:26999873-26999900	GM20000	blood:	n/a	n/a
2	POLR2A	chr10:26998255-26998367	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:26999549-26999783	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:26999741-26999831	MCF-7	breast:	n/a	n/a
5	POLR2A	chr10:26999631-27000062	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:26999290-26999583	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:26996672..26998643-chr10:27000088..27002341,2	MCF-7	breast:
2	chr10:26995580..26998397-chr10:27011031..27013187,2	K562	blood:
3	chr10:26996672..26998643-chr10:27000088..27002341,2	MCF-7	breast:
4	chr10:26997066..27000236-chr10:27001137..27005066,4	K562	blood:

No data

Variant related genes	Relation type
HSPA8P3	TF binding region
ENSG00000234788	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557177370	chr10:26998305-26998306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548633349	chr10:26998313-26998314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs193157572	chr10:26998331-26998332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373923529	chr10:26998345-26998346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1780182	chr10:26998358-26998359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547375219	chr10:26998362-26998363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369286509	chr10:26998384-26998385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185348730	chr10:26998385-26998386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549825613	chr10:26998415-26998416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569808174	chr10:26998424-26998425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535294392	chr10:26998450-26998451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35896928	chr10:26998461-26998462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576943737	chr10:26998478-26998479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144322594	chr10:26998496-26998497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7901454	chr10:26998515-26998516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368191429	chr10:26998521-26998522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371686043	chr10:26998525-26998526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376006458	chr10:26998540-26998541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371936975	chr10:26998622-26998623	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141964368	chr10:26998629-26998630	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77826284	chr10:26998637-26998638	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114640034	chr10:26998641-26998642	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374916343	chr10:26998645-26998646	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149274703	chr10:26998656-26998657	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369956660	chr10:26998667-26998668	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371003260	chr10:26998703-26998704	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202187965	chr10:26998706-26998707	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374834909	chr10:26998718-26998719	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191803080	chr10:26998728-26998729	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2368183	chr10:26998739-26998740	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs373098409	chr10:26998748-26998749	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542065125	chr10:26998754-26998755	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115488116	chr10:26998768-26998769	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527775107	chr10:26998803-26998804	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559674376	chr10:26998817-26998818	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541163353	chr10:26998850-26998851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564108464	chr10:26998878-26998879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75955767	chr10:26998899-26998900	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111289169	chr10:26998908-26998909	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550005241	chr10:26998944-26998945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183883235	chr10:26998950-26998951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529228396	chr10:26998956-26998957	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531705131	chr10:26998966-26998967	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567247902	chr10:26998969-26998970	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542197470	chr10:26998974-26998975	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534689581	chr10:26998998-26998999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557901997	chr10:26999015-26999016	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11015241	chr10:26999031-26999032	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370308558	chr10:26999040-26999041	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9418586	chr10:26999049-26999050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
3	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
6	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:26988200-27004600	Weak transcription	NH-A	brain
8	chr10:26988200-27009600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:26988200-27009800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:26988400-27009800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:26989400-27031000	Weak transcription	Small Intestine	intestine
12	chr10:26990400-27002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:26990800-26998800	Strong transcription	Dnd41	blood
14	chr10:26991600-26998800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:26992000-26998800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:26993000-26998800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:26993000-26999000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:26993400-26998800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:26993600-26998600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:26993600-26998800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr10:26993800-26998400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr10:26993800-26998600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:26993800-26998800	Strong transcription	Fetal Intestine Large	intestine
24	chr10:26993800-26999000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:26994200-26998600	Strong transcription	Primary T cells from cord blood	blood
26	chr10:26994200-26998800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:26994200-26998800	Strong transcription	Liver	Liver
28	chr10:26994200-26999800	Strong transcription	Fetal Intestine Small	intestine
29	chr10:26994200-27007800	Strong transcription	Fetal Stomach	stomach
30	chr10:26994400-26998600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:26994400-26998800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:26994400-26998800	Strong transcription	Brain Germinal Matrix	brain
33	chr10:26994400-26998800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:26994400-26998800	Strong transcription	Left Ventricle	heart
35	chr10:26994400-27007800	Strong transcription	Thymus	Thymus
36	chr10:26994400-27010600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:26994600-26998800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:26994600-26998800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:26994600-26998800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:26994600-26998800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:26994600-26998800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:26994600-26999000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:26994600-27002400	Strong transcription	Fetal Muscle Leg	muscle
45	chr10:26994600-27004600	Strong transcription	Adipose Nuclei	Adipose
46	chr10:26994800-26998600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:26994800-26998600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr10:26994800-26998800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:26994800-26998800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr10:26994800-26998800	Strong transcription	Muscle Satellite Cultured Cells	--

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