Variant report

Variant	esv1798522
Chromosome Location	chr10:26997972-27001814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:27001280-27001430	AoAF	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
2	CTCF	chr10:27001310-27001435	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
3	CTCF	chr10:27001280-27001430	HCPEpiC	choroid plexus:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
4	CTCF	chr10:27001380-27001530	HCT-116	colon:	n/a	n/a
5	CTCF	chr10:27001286-27001446	GM12878	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
6	CTCF	chr10:27001160-27001310	GM12873	blood:	n/a	n/a
7	CTCF	chr10:27001360-27001510	AG04450	lung:	n/a	n/a
8	CTCF	chr10:27001280-27001430	HRE	kidney:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
9	CTCF	chr10:27001243-27001428	Lung_OC	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
10	CTCF	chr10:27001266-27001457	Pancreas_OC	pancreas:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
11	CTCF	chr10:27001400-27001550	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr10:27001180-27001330	HMEC	breast:	n/a	n/a
13	CTCF	chr10:27001260-27001410	RPTEC	kidney:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
14	CTCF	chr10:27001330-27001423	ProgFib	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
15	CTCF	chr10:27001371-27001405	NHEK	skin:	n/a	n/a
16	CTCF	chr10:27001221-27001428	H1-hESC	embryonic stem cell:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
17	CTCF	chr10:27001265-27001434	HepG2	liver:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
18	CTCF	chr10:27001280-27001430	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
19	CTCF	chr10:27001282-27001460	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
20	CTCF	chr10:27001280-27001430	HVMF	connective:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
21	CTCF	chr10:27001300-27001450	HAc	cerebellar:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
22	CTCF	chr10:27001320-27001470	AoAF	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
23	CTCF	chr10:27001240-27001390	HMF	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
24	CTCF	chr10:27001260-27001410	SAEC	small airway:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
25	CTCF	chr10:27001240-27001390	HRPEpiC	eye:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
26	CTCF	chr10:27001220-27001370	GM12872	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
27	CTCF	chr10:27001280-27001430	NHLF	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
28	CTCF	chr10:27001300-27001450	HA-sp	spinal cord:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
29	CTCF	chr10:27001280-27001430	WERI-Rb-1	eye:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
30	CTCF	chr10:27001460-27001610	SAEC	small airway:	n/a	n/a
31	CTCF	chr10:27001303-27001437	Spleen_OC	spleen:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
32	CTCF	chr10:27001260-27001410	NHDF-neo	bronchial:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
33	CTCF	chr10:27001300-27001450	HRPEpiC	eye:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
34	CTCF	chr10:27001260-27001410	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
35	CTCF	chr10:27001300-27001450	HUVEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
36	CTCF	chr10:26999873-26999900	GM20000	blood:	n/a	n/a
37	CTCF	chr10:27001300-27001450	SAEC	small airway:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
38	CTCF	chr10:27001260-27001410	HepG2	liver:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
39	CTCF	chr10:27001280-27001430	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
40	CTCF	chr10:27001260-27001410	HA-sp	spinal cord:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
41	CTCF	chr10:27001340-27001443	MCF-7	breast:	n/a	chr10:27001340-27001353
42	CTCF	chr10:27001280-27001430	AG04449	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
43	CTCF	chr10:27001220-27001370	HFF	foreskin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
44	CTCF	chr10:27001350-27001444	A549	lung:	n/a	n/a
45	CTCF	chr10:27001260-27001410	AG10803	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
46	CTCF	chr10:27001300-27001450	HCT-116	colon:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
47	CTCF	chr10:27001317-27001400	HepG2	liver:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
48	CTCF	chr10:27001280-27001430	HBMEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
49	CTCF	chr10:27001245-27001455	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
50	CTCF	chr10:27001200-27001350	HCM	heart:	n/a	n/a

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

Variant related genes	Relation type
HSPA8P3	TF binding region
ENSG00000235843	TF binding region
ENSG00000234788	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1748358	chr10:26997972-26997973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34676286	chr10:26998017-26998018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556302819	chr10:26998024-26998025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576193869	chr10:26998025-26998026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552825785	chr10:26998029-26998030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1780181	chr10:26998155-26998156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184101847	chr10:26998157-26998158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555195010	chr10:26998203-26998204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115033208	chr10:26998208-26998209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373280685	chr10:26998217-26998218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111751500	chr10:26998231-26998232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188612378	chr10:26998242-26998243	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577611155	chr10:26998246-26998247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546205997	chr10:26998248-26998249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537270272	chr10:26998268-26998269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557177370	chr10:26998305-26998306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548633349	chr10:26998313-26998314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs193157572	chr10:26998331-26998332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373923529	chr10:26998345-26998346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1780182	chr10:26998358-26998359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547375219	chr10:26998362-26998363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369286509	chr10:26998384-26998385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185348730	chr10:26998385-26998386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549825613	chr10:26998415-26998416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569808174	chr10:26998424-26998425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535294392	chr10:26998450-26998451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35896928	chr10:26998461-26998462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576943737	chr10:26998478-26998479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144322594	chr10:26998496-26998497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7901454	chr10:26998515-26998516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368191429	chr10:26998521-26998522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371686043	chr10:26998525-26998526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376006458	chr10:26998540-26998541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371936975	chr10:26998622-26998623	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141964368	chr10:26998629-26998630	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77826284	chr10:26998637-26998638	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114640034	chr10:26998641-26998642	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374916343	chr10:26998645-26998646	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149274703	chr10:26998656-26998657	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369956660	chr10:26998667-26998668	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371003260	chr10:26998703-26998704	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs202187965	chr10:26998706-26998707	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374834909	chr10:26998718-26998719	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191803080	chr10:26998728-26998729	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	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
46	rs373098409	chr10:26998748-26998749	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542065125	chr10:26998754-26998755	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115488116	chr10:26998768-26998769	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527775107	chr10:26998803-26998804	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559674376	chr10:26998817-26998818	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:231 , 50 per page) page: 1 2 3 4 5

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	chr10:26991600-26998200	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:26991600-26998800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr10:26992000-26998800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:26993000-26998800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:26993000-26999000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr10:26993400-26998800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:26993600-26998600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:26993600-26998800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr10:26993800-26998000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:26993800-26998400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr10:26993800-26998600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr10:26993800-26998800	Strong transcription	Fetal Intestine Large	intestine
26	chr10:26993800-26999000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:26994200-26998200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:26994200-26998200	Strong transcription	GM12878-XiMat	blood
29	chr10:26994200-26998600	Strong transcription	Primary T cells from cord blood	blood
30	chr10:26994200-26998800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:26994200-26998800	Strong transcription	Liver	Liver
32	chr10:26994200-26999800	Strong transcription	Fetal Intestine Small	intestine
33	chr10:26994200-27007800	Strong transcription	Fetal Stomach	stomach
34	chr10:26994400-26998200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:26994400-26998600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:26994400-26998800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:26994400-26998800	Strong transcription	Brain Germinal Matrix	brain
38	chr10:26994400-26998800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:26994400-26998800	Strong transcription	Left Ventricle	heart
40	chr10:26994400-27007800	Strong transcription	Thymus	Thymus
41	chr10:26994400-27010600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:26994600-26998000	Strong transcription	Hela-S3	cervix
44	chr10:26994600-26998200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:26994600-26998200	Strong transcription	NHEK	skin
46	chr10:26994600-26998800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:26994600-26998800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:26994600-26998800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr10:26994600-26998800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:26994600-26998800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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