Variant report

Variant	esv3426626
Chromosome Location	chr10:26997596-27003794
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	ARID3A	chr10:27003565-27003917	HepG2	liver:	n/a	n/a
2	CTCF	chr10:27001220-27001370	HFF	foreskin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
3	CTCF	chr10:27001260-27001410	AG10803	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
4	CTCF	chr10:27001349-27001459	MCF-7	breast:	n/a	n/a
5	CTCF	chr10:27001323-27001371	GM10248	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
6	CTCF	chr10:27001200-27001350	HCT-116	colon:	n/a	n/a
7	CTCF	chr10:27001164-27001532	GM12878	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
8	CTCF	chr10:27001260-27001410	AG09309	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
9	CTCF	chr10:27001360-27001510	AG04450	lung:	n/a	n/a
10	CTCF	chr10:27001400-27001550	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr10:27001280-27001430	HBMEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
12	CTCF	chr10:27001143-27001565	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
13	CTCF	chr10:27001350-27001444	A549	lung:	n/a	n/a
14	CTCF	chr10:27001320-27001470	AG09309	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
15	CTCF	chr10:27001300-27001450	HA-sp	spinal cord:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
16	CTCF	chr10:27001500-27001650	RPTEC	kidney:	n/a	n/a
17	CTCF	chr10:27001300-27001450	AG04450	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
18	CTCF	chr10:27001260-27001419	HUVEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
19	CTCF	chr10:27001280-27001430	GM12872	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
20	CTCF	chr10:27001260-27001410	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
21	CTCF	chr10:27001300-27001450	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
22	CTCF	chr10:27001240-27001390	GM12864	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
23	CTCF	chr10:27001432-27001489	Fibrobl	skin:	n/a	n/a
24	CTCF	chr10:27001300-27001450	HRPEpiC	eye:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
25	CTCF	chr10:27001280-27001430	AoAF	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
26	CTCF	chr10:27001240-27001390	HMF	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
27	CTCF	chr10:27001282-27001460	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
28	CTCF	chr10:27001260-27001410	HEEpiC	esophagus:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
29	CTCF	chr10:27001266-27001457	Pancreas_OC	pancreas:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
30	CTCF	chr10:27001300-27001450	NHDF-neo	bronchial:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
31	CTCF	chr10:27001245-27001455	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
32	CTCF	chr10:27001460-27001610	SAEC	small airway:	n/a	n/a
33	CTCF	chr10:27001297-27001424	Hela-S3	cervix:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
34	CTCF	chr10:27001300-27001450	HUVEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
35	CTCF	chr10:27001265-27001434	HepG2	liver:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
36	CTCF	chr10:27001300-27001450	HCT-116	colon:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
37	CTCF	chr10:27001320-27001470	AoAF	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
38	CTCF	chr10:27001260-27001410	RPTEC	kidney:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
39	CTCF	chr10:27001310-27001435	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
40	CTCF	chr10:27001280-27001430	HVMF	connective:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
41	CTCF	chr10:27001200-27001350	HCM	heart:	n/a	n/a
42	CTCF	chr10:27001280-27001430	GM12878	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
43	CTCF	chr10:27001243-27001428	Lung_OC	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
44	CTCF	chr10:27003512-27003541	Fibrobl	skin:	n/a	n/a
45	CTCF	chr10:27001280-27001430	HEEpiC	esophagus:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
46	CTCF	chr10:27001180-27001330	HVMF	connective:	n/a	n/a
47	CTCF	chr10:27001330-27001423	ProgFib	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
48	CTCF	chr10:27001260-27001410	SAEC	small airway:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
49	CTCF	chr10:27001303-27001437	Spleen_OC	spleen:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
50	CTCF	chr10:27001260-27001410	HCPEpiC	choroid plexus:	n/a	chr10:27001338-27001356 chr10:27001340-27001353

No.	Distal block	Cell Line	Cell type
1	chr10:26996672..26998643-chr10:27000088..27002341,2	MCF-7	breast:
2	chr10:26996672..26998643-chr10:27000088..27002341,2	MCF-7	breast:
3	chr10:26997066..27000236-chr10:27001137..27005066,4	K562	blood:
4	chr10:26986123..26987914-chr10:27003670..27005754,2	MCF-7	breast:
5	chr10:26995580..26998397-chr10:27011031..27013187,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBB1IP-5	chr10:27003782-27004334	NONHSAT011859
2	lnc-APBB1IP-5	chr10:27003551-27003646	NONHSAT011859

Variant related genes	Relation type
HSPA8P3	TF binding region
ENSG00000235843	TF binding region
ENSG00000234788	chromatin interactions
ENSG00000148459	chromatin interactions

Extended variants
information (count: 251 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540900335	chr10:26997637-26997638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs186895883	chr10:26997646-26997647	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs111727208	chr10:26997653-26997654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78946849	chr10:26997724-26997725	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs398075028	chr10:26997725-26997726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189725892	chr10:26997834-26997835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377603346	chr10:26997837-26997838	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552730173	chr10:26997877-26997878	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562985233	chr10:26997882-26997883	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1780179	chr10:26997889-26997890	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs548427194	chr10:26997897-26997898	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1748357	chr10:26997918-26997919	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs533950229	chr10:26997924-26997925	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1780180	chr10:26997925-26997926	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs570421512	chr10:26997943-26997944	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1748358	chr10:26997972-26997973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs34676286	chr10:26998017-26998018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556302819	chr10:26998024-26998025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576193869	chr10:26998025-26998026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552825785	chr10:26998029-26998030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1780181	chr10:26998155-26998156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184101847	chr10:26998157-26998158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555195010	chr10:26998203-26998204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115033208	chr10:26998208-26998209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373280685	chr10:26998217-26998218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111751500	chr10:26998231-26998232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188612378	chr10:26998242-26998243	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577611155	chr10:26998246-26998247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546205997	chr10:26998248-26998249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537270272	chr10:26998268-26998269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557177370	chr10:26998305-26998306	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548633349	chr10:26998313-26998314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs193157572	chr10:26998331-26998332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373923529	chr10:26998345-26998346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1780182	chr10:26998358-26998359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547375219	chr10:26998362-26998363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369286509	chr10:26998384-26998385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185348730	chr10:26998385-26998386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549825613	chr10:26998415-26998416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569808174	chr10:26998424-26998425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535294392	chr10:26998450-26998451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35896928	chr10:26998461-26998462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576943737	chr10:26998478-26998479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144322594	chr10:26998496-26998497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7901454	chr10:26998515-26998516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368191429	chr10:26998521-26998522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371686043	chr10:26998525-26998526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376006458	chr10:26998540-26998541	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371936975	chr10:26998622-26998623	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141964368	chr10:26998629-26998630	Weak transcription Strong transcription Enhancers Genic 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:313 , 50 per page) page: 1 2 3 4 5 6 7

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	chr10:26993000-26997800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:26993000-26998800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:26993000-26999000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr10:26993400-26998800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:26993600-26998600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:26993600-26998800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr10:26993800-26998000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:26993800-26998400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr10:26993800-26998600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:26993800-26998800	Strong transcription	Fetal Intestine Large	intestine
27	chr10:26993800-26999000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:26994200-26998200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:26994200-26998200	Strong transcription	GM12878-XiMat	blood
30	chr10:26994200-26998600	Strong transcription	Primary T cells from cord blood	blood
31	chr10:26994200-26998800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:26994200-26998800	Strong transcription	Liver	Liver
33	chr10:26994200-26999800	Strong transcription	Fetal Intestine Small	intestine
34	chr10:26994200-27007800	Strong transcription	Fetal Stomach	stomach
35	chr10:26994400-26997600	Strong transcription	Fetal Brain Male	brain
36	chr10:26994400-26997800	Strong transcription	HMEC	breast
37	chr10:26994400-26998200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:26994400-26998600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:26994400-26998800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:26994400-26998800	Strong transcription	Brain Germinal Matrix	brain
41	chr10:26994400-26998800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:26994400-26998800	Strong transcription	Left Ventricle	heart
43	chr10:26994400-27007800	Strong transcription	Thymus	Thymus
44	chr10:26994400-27010600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:26994600-26998000	Strong transcription	Hela-S3	cervix
47	chr10:26994600-26998200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr10:26994600-26998200	Strong transcription	NHEK	skin
49	chr10:26994600-26998800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:26994600-26998800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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