Variant report

Variant	esv3441221
Chromosome Location	chr11:71272504-71276802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:245)
CpG islands
(count:245)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:71274374-71274763	K562	blood:	n/a	n/a
2	BHLHE40	chr11:71274540-71274790	GM12878	blood:	n/a	n/a
3	BRCA1	chr11:71274467-71274725	HepG2	liver:	n/a	n/a
4	CHD2	chr11:71274596-71274796	HepG2	liver:	n/a	n/a
5	CTCF	chr11:71274640-71274790	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr11:71274622-71274800	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr11:71274640-71274790	GM12870	blood:	n/a	n/a
8	CTCF	chr11:71274633-71274839	LNCaP	prostate:	n/a	n/a
9	CTCF	chr11:71274660-71274810	AG09309	skin:	n/a	n/a
10	CTCF	chr11:71274680-71274830	AG04450	lung:	n/a	n/a
11	CTCF	chr11:71274680-71274830	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr11:71274540-71274690	A549	lung:	n/a	n/a
13	CTCF	chr11:71274553-71274813	A549	lung:	n/a	n/a
14	CTCF	chr11:71274596-71274836	ProgFib	skin:	n/a	n/a
15	CTCF	chr11:71274640-71274790	GM12869	blood:	n/a	n/a
16	CTCF	chr11:71274652-71274771	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr11:71274600-71274750	HRE	kidney:	n/a	n/a
18	CTCF	chr11:71274620-71274770	GM12864	blood:	n/a	n/a
19	CTCF	chr11:71274660-71274810	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:71274640-71274790	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr11:71274640-71274790	GM12868	blood:	n/a	n/a
22	CTCF	chr11:71274660-71274810	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr11:71274700-71274850	HAc	cerebellar:	n/a	n/a
24	CTCF	chr11:71275110-71275177	GM20000	blood:	n/a	n/a
25	CTCF	chr11:71274611-71274845	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:71274559-71274861	GM12878	blood:	n/a	n/a
27	CTCF	chr11:71274640-71274790	BE2_C	brain:	n/a	n/a
28	CTCF	chr11:71274620-71274770	GM12870	blood:	n/a	n/a
29	CTCF	chr11:71274620-71274770	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr11:71274491-71274922	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:71274660-71274810	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:71274606-71274854	GM19240	blood:	n/a	n/a
33	CTCF	chr11:71274606-71274821	GM10266	blood:	n/a	n/a
34	CTCF	chr11:71274536-71274883	IMR90	lung:	n/a	n/a
35	CTCF	chr11:71274634-71274838	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:71274620-71274770	HepG2	liver:	n/a	n/a
37	CTCF	chr11:71274660-71274810	GM12866	blood:	n/a	n/a
38	CTCF	chr11:71274660-71274810	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr11:71274680-71274830	GM12872	blood:	n/a	n/a
40	CTCF	chr11:71274680-71274830	HPF	lung:	n/a	n/a
41	CTCF	chr11:71274585-71274856	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:71274940-71275090	GM12872	blood:	n/a	n/a
43	CTCF	chr11:71274720-71274870	HFF	foreskin:	n/a	n/a
44	CTCF	chr11:71274640-71274790	AG10803	skin:	n/a	n/a
45	CTCF	chr11:71274660-71274810	GM12872	blood:	n/a	n/a
46	CTCF	chr11:71274600-71274750	GM12801	blood:	n/a	n/a
47	CTCF	chr11:71274580-71274730	AG04450	lung:	n/a	n/a
48	CTCF	chr11:71275040-71275310	GM12870	blood:	n/a	n/a
49	CTCF	chr11:71274612-71274830	GM19239	blood:	n/a	n/a
50	CTCF	chr11:71274503-71274925	A549	lung:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71275784-71275834	T-47D	breast:	n/a
2	chr11:71275784-71275834	T-47D	breast:	n/a
3	chr11:71275784-71275834	Caco-2	colon:	n/a
4	chr11:71275784-71275834	NT2-D1	testis:	n/a
5	chr11:71276654-71276704	HCM	heart:	n/a
6	chr11:71276557-71276607	NB4	blood:	n/a
7	chr11:71276557-71276607	LNCaP	prostate:	n/a
8	chr11:71276557-71276607	HCPEpiC	choroid plexus:	n/a
9	chr11:71276557-71276607	HRCEpiC	kidney:	n/a
10	chr11:71276557-71276607	ovcar-3	ovarian:	n/a
11	chr11:71276557-71276607	AG09309	skin:	n/a
12	chr11:71276557-71276607	PANC-1	pancreas:	n/a
13	chr11:71275784-71275834	HepG2	liver:	n/a
14	chr11:71275912-71275962	HIPEpiC	eye:	n/a
15	chr11:71275784-71275834	BE2_C	brain:	n/a
16	chr11:71276654-71276704	HRE	kidney:	n/a
17	chr11:71275912-71275962	ECC-1	luminal epithelium:	n/a
18	chr11:71276654-71276704	NHBE	bronchial:	n/a
19	chr11:71275912-71275962	HRCEpiC	kidney:	n/a
20	chr11:71276654-71276704	HMEC	breast:	n/a
21	chr11:71276557-71276607	BJ	skin:	n/a
22	chr11:71275912-71275962	HEK293	kidney:	embryo
23	chr11:71276557-71276607	HRPEpiC	eye:	n/a
24	chr11:71275912-71275962	NH-A	brain:	n/a
25	chr11:71275784-71275834	LNCaP	prostate:	n/a
26	chr11:71275912-71275962	GM12892	blood:	n/a
27	chr11:71275912-71275962	HCF	heart:	n/a
28	chr11:71275784-71275834	A549	lung:	n/a
29	chr11:71275784-71275834	AG10803	skin:	n/a
30	chr11:71275912-71275962	NHBE	bronchial:	n/a
31	chr11:71276654-71276704	HL-60	blood:	n/a
32	chr11:71276557-71276607	MCF-7	breast:	n/a
33	chr11:71276654-71276704	ProgFib	skin:	n/a
34	chr11:71275912-71275962	HRPEpiC	eye:	n/a
35	chr11:71276557-71276607	IMR90	lung:	fetal
36	chr11:71276557-71276607	ProgFib	skin:	n/a
37	chr11:71276557-71276607	AG04450	lung:	fetal
38	chr11:71276654-71276704	U87	brain:	n/a
39	chr11:71275784-71275834	ovcar-3	ovarian:	n/a
40	chr11:71275912-71275962	HUVEC	blood vessel:	n/a
41	chr11:71276654-71276704	GM19239	blood:	n/a
42	chr11:71276654-71276704	AG09319	gingival:	n/a
43	chr11:71275912-71275962	Hela-S3	cervix:	n/a
44	chr11:71276654-71276704	HIPEpiC	eye:	n/a
45	chr11:71275912-71275962	AoSMC	blood vessel:	n/a
46	chr11:71275784-71275834	CMK	blood:	n/a
47	chr11:71275912-71275962	U87	brain:	n/a
48	chr11:71275912-71275962	HMEC	breast:	n/a
49	chr11:71276654-71276704	SAEC	small airway:	n/a
50	chr11:71276654-71276704	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:
2	chr11:71189071..71191550-chr11:71272066..71273804,2	MCF-7	breast:
3	chr11:71198148..71200436-chr11:71273726..71275977,2	MCF-7	breast:
4	chr11:71272055..71274887-chr11:71280546..71282110,2	K562	blood:
5	chr11:71156732..71161621-chr11:71272936..71276184,4	MCF-7	breast:
6	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP5-10	TF binding region
ENSG00000248903	TF binding region
KRTAP5-10	CpG island
ENSG00000248903	CpG island
ENSG00000172893	chromatin interactions
ENSG00000172890	chromatin interactions
ENSG00000254682	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:266 , 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	rs201406263	chr11:71272504-71272505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117523292	chr11:71272530-71272531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77485559	chr11:71272543-71272544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147303206	chr11:71272547-71272548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545060197	chr11:71272558-71272559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113633868	chr11:71272566-71272567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140799456	chr11:71272601-71272602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543963674	chr11:71272611-71272612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562155086	chr11:71272638-71272639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529545413	chr11:71272659-71272660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141483584	chr11:71272663-71272664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560035643	chr11:71272669-71272670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150823459	chr11:71272671-71272672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139273927	chr11:71272702-71272703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368266340	chr11:71272717-71272718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs180866513	chr11:71272780-71272781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537163548	chr11:71272786-71272787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34676806	chr11:71272792-71272793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149985348	chr11:71272800-71272801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567350145	chr11:71272872-71272873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555686641	chr11:71272920-71272921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs57701050	chr11:71272980-71272981	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552980639	chr11:71272999-71273000	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs146741260	chr11:71273087-71273088	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs201620261	chr11:71273162-71273163	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs113181503	chr11:71273168-71273169	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs368763204	chr11:71273173-71273174	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs569285348	chr11:71273174-71273175	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371383574	chr11:71273191-71273192	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs185268116	chr11:71273217-71273218	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs575371787	chr11:71273218-71273219	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs538434586	chr11:71273286-71273287	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs542362290	chr11:71273335-71273336	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs201829286	chr11:71273370-71273371	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs561085255	chr11:71273385-71273386	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs189739313	chr11:71273387-71273388	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs141706311	chr11:71273391-71273392	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs557142680	chr11:71273392-71273393	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs541645959	chr11:71273473-71273474	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs559596176	chr11:71273505-71273506	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs7106362	chr11:71273517-71273518	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182405212	chr11:71273522-71273523	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs185551014	chr11:71273557-71273558	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs530985770	chr11:71273561-71273562	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs549204444	chr11:71273589-71273590	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs143582052	chr11:71273636-71273637	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs567785474	chr11:71273642-71273643	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs191741583	chr11:71273643-71273644	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373463944	chr11:71273690-71273691	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546799349	chr11:71273730-71273731	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71274200-71276400	Bivalent Enhancer	HepG2	liver
2	chr11:71274400-71274800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr11:71274400-71274800	Bivalent Enhancer	Osteobl	bone
4	chr11:71274400-71275000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr11:71274400-71275000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:71274600-71274800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr11:71274600-71274800	Enhancers	Brain Substantia Nigra	brain
8	chr11:71274600-71274800	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr11:71274600-71275200	Enhancers	Spleen	Spleen
10	chr11:71274800-71275000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:71274800-71275000	Bivalent Enhancer	A549	lung
12	chr11:71274800-71275400	Enhancers	Liver	Liver
13	chr11:71274800-71277400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:71275000-71275200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr11:71275000-71275200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
16	chr11:71275000-71275200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
17	chr11:71275000-71275400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:71275200-71275400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:71275200-71277200	Weak transcription	Spleen	Spleen
20	chr11:71275200-71277400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:71275400-71277200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:71275400-71277600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:71276200-71277600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:71276400-71277400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:71276600-71276800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr11:71276600-71278200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr11:71276800-71277600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links