Variant report

Variant	esv3487618
Chromosome Location	chr10:26997046-27003844
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	chr10:27001260-27001419	HUVEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
3	CTCF	chr10:27001245-27001455	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
4	CTCF	chr10:27001200-27001350	HCT-116	colon:	n/a	n/a
5	CTCF	chr10:27001380-27001530	HCT-116	colon:	n/a	n/a
6	CTCF	chr10:27001265-27001434	HepG2	liver:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
7	CTCF	chr10:27001300-27001450	SAEC	small airway:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
8	CTCF	chr10:27001280-27001430	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
9	CTCF	chr10:27001280-27001430	HCPEpiC	choroid plexus:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
10	CTCF	chr10:27001340-27001443	MCF-7	breast:	n/a	chr10:27001340-27001353
11	CTCF	chr10:27001500-27001650	RPTEC	kidney:	n/a	n/a
12	CTCF	chr10:27001284-27001487	Gliobla	brain:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
13	CTCF	chr10:27001280-27001430	HEEpiC	esophagus:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
14	CTCF	chr10:27001280-27001430	HBMEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
15	CTCF	chr10:27001350-27001444	A549	lung:	n/a	n/a
16	CTCF	chr10:27001432-27001489	Fibrobl	skin:	n/a	n/a
17	CTCF	chr10:27001303-27001437	Spleen_OC	spleen:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
18	CTCF	chr10:27001200-27001350	HCM	heart:	n/a	n/a
19	CTCF	chr10:27001300-27001450	HCT-116	colon:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
20	CTCF	chr10:27001243-27001428	Lung_OC	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
21	CTCF	chr10:27001160-27001310	GM12873	blood:	n/a	n/a
22	CTCF	chr10:27001280-27001430	AG09319	gingival:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
23	CTCF	chr10:27001400-27001550	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr10:27001260-27001410	AG10803	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
25	CTCF	chr10:27001280-27001430	HVMF	connective:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
26	CTCF	chr10:27001330-27001423	ProgFib	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
27	CTCF	chr10:27001300-27001450	AG04450	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
28	CTCF	chr10:27001300-27001450	HAc	cerebellar:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
29	CTCF	chr10:27001300-27001450	HA-sp	spinal cord:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
30	CTCF	chr10:27001180-27001330	HMEC	breast:	n/a	n/a
31	CTCF	chr10:27001240-27001390	GM12864	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
32	CTCF	chr10:27001300-27001450	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
33	CTCF	chr10:27001260-27001410	AG09309	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
34	CTCF	chr10:27001286-27001446	GM12878	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
35	CTCF	chr10:27001240-27001390	HMF	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
36	CTCF	chr10:27001240-27001390	HMEC	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
37	CTCF	chr10:27001460-27001610	SAEC	small airway:	n/a	n/a
38	CTCF	chr10:27001280-27001430	AG04449	skin:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
39	CTCF	chr10:27001282-27001460	MCF-7	breast:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
40	CTCF	chr10:27001300-27001450	HUVEC	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
41	CTCF	chr10:27001280-27001430	A549	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
42	CTCF	chr10:27001260-27001410	HRE	kidney:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
43	CTCF	chr10:27001260-27001410	HA-sp	spinal cord:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
44	CTCF	chr10:27001180-27001330	HVMF	connective:	n/a	n/a
45	CTCF	chr10:27001320-27001470	AoAF	blood vessel:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
46	CTCF	chr10:27001280-27001430	GM12878	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
47	CTCF	chr10:27001221-27001428	H1-hESC	embryonic stem cell:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
48	CTCF	chr10:27001220-27001370	GM12872	blood:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
49	CTCF	chr10:27001280-27001430	NHLF	lung:	n/a	chr10:27001338-27001356 chr10:27001340-27001353
50	CTCF	chr10:27001240-27001390	HRPEpiC	eye:	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	chr10:26997066..27000236-chr10:27001137..27005066,4	K562	blood:
3	chr10:26995580..26998397-chr10:27011031..27013187,2	K562	blood:
4	chr10:26996672..26998643-chr10:27000088..27002341,2	MCF-7	breast:
5	chr10:26986123..26987914-chr10:27003670..27005754,2	MCF-7	breast:
6	chr10:26985157..26986871-chr10:26995628..26997533,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBB1IP-5	chr10:27003551-27003646	NONHSAT011859
2	lnc-ABI1-6	chr10:26997342-26997429	NONHSAT011857
3	lnc-APBB1IP-5	chr10:27003782-27004334	NONHSAT011859

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

Extended variants
information (count: 278 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:278 , 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	rs142994066	chr10:26997049-26997050	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547354076	chr10:26997056-26997057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372716169	chr10:26997079-26997080	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77364538	chr10:26997144-26997145	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562036691	chr10:26997147-26997148	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531136735	chr10:26997172-26997173	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186962823	chr10:26997215-26997216	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552342968	chr10:26997264-26997265	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs1677728	chr10:26997271-26997272	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375506776	chr10:26997291-26997292	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575821088	chr10:26997303-26997304	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs554944129	chr10:26997306-26997307	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190415148	chr10:26997310-26997311	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533821113	chr10:26997336-26997337	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs72797951	chr10:26997427-26997428	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs112227077	chr10:26997430-26997431	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202094541	chr10:26997444-26997445	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527810805	chr10:26997446-26997447	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368863935	chr10:26997451-26997452	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147536585	chr10:26997496-26997497	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs555943516	chr10:26997537-26997538	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576086499	chr10:26997539-26997540	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs16927290	chr10:26997556-26997557	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs562611050	chr10:26997573-26997574	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200260443	chr10:26997574-26997575	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11015240	chr10:26997589-26997590	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182609729	chr10:26997595-26997596	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540900335	chr10:26997637-26997638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186895883	chr10:26997646-26997647	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111727208	chr10:26997653-26997654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78946849	chr10:26997724-26997725	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs398075028	chr10:26997725-26997726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189725892	chr10:26997834-26997835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377603346	chr10:26997837-26997838	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552730173	chr10:26997877-26997878	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562985233	chr10:26997882-26997883	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1780179	chr10:26997889-26997890	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs548427194	chr10:26997897-26997898	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1748357	chr10:26997918-26997919	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs533950229	chr10:26997924-26997925	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1780180	chr10:26997925-26997926	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs570421512	chr10:26997943-26997944	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1748358	chr10:26997972-26997973	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs34676286	chr10:26998017-26998018	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556302819	chr10:26998024-26998025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576193869	chr10:26998025-26998026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552825785	chr10:26998029-26998030	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1780181	chr10:26998155-26998156	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184101847	chr10:26998157-26998158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555195010	chr10:26998203-26998204	Weak transcription Strong transcription	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:334 , 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	chr10:26990200-26997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:26990400-27002400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:26990800-26998800	Strong transcription	Dnd41	blood
15	chr10:26991600-26998200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr10:26991600-26998800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:26992000-26998800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:26993000-26997800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:26993000-26998800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:26993000-26999000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr10:26993400-26998800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr10:26993600-26998600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:26993600-26998800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr10:26993800-26998000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:26993800-26998400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr10:26993800-26998600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:26993800-26998800	Strong transcription	Fetal Intestine Large	intestine
28	chr10:26993800-26999000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:26994200-26998200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:26994200-26998200	Strong transcription	GM12878-XiMat	blood
31	chr10:26994200-26998600	Strong transcription	Primary T cells from cord blood	blood
32	chr10:26994200-26998800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:26994200-26998800	Strong transcription	Liver	Liver
34	chr10:26994200-26999800	Strong transcription	Fetal Intestine Small	intestine
35	chr10:26994200-27007800	Strong transcription	Fetal Stomach	stomach
36	chr10:26994400-26997600	Strong transcription	Fetal Brain Male	brain
37	chr10:26994400-26997800	Strong transcription	HMEC	breast
38	chr10:26994400-26998200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:26994400-26998600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:26994400-26998800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr10:26994400-26998800	Strong transcription	Brain Germinal Matrix	brain
42	chr10:26994400-26998800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr10:26994400-26998800	Strong transcription	Left Ventricle	heart
44	chr10:26994400-27007800	Strong transcription	Thymus	Thymus
45	chr10:26994400-27010600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:26994400-27040800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:26994600-26997400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:26994600-26998000	Strong transcription	Hela-S3	cervix
49	chr10:26994600-26998200	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr10:26994600-26998200	Strong transcription	NHEK	skin

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