Variant report

Variant	esv3421476
Chromosome Location	chr11:71273104-71276402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 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	chr11:71274608-71274833	LNCaP	prostate:	n/a	n/a
6	CTCF	chr11:71274720-71274870	HFF	foreskin:	n/a	n/a
7	CTCF	chr11:71274660-71274810	GM12864	blood:	n/a	n/a
8	CTCF	chr11:71274584-71274849	K562	blood:	n/a	n/a
9	CTCF	chr11:71274498-71274870	K562	blood:	n/a	n/a
10	CTCF	chr11:71274680-71274830	GM12871	blood:	n/a	n/a
11	CTCF	chr11:71274660-71274810	GM12868	blood:	n/a	n/a
12	CTCF	chr11:71273300-71273450	HMEC	breast:	n/a	n/a
13	CTCF	chr11:71274632-71274832	GM20000	blood:	n/a	n/a
14	CTCF	chr11:71274680-71274830	NHDF-neo	bronchial:	n/a	n/a
15	CTCF	chr11:71274640-71274790	GM12870	blood:	n/a	n/a
16	CTCF	chr11:71274680-71274830	A549	lung:	n/a	n/a
17	CTCF	chr11:71274622-71274800	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr11:71274680-71274830	HPF	lung:	n/a	n/a
19	CTCF	chr11:71274500-71274877	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:71274617-71274852	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:71274640-71274790	BE2_C	brain:	n/a	n/a
22	CTCF	chr11:71274600-71274750	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr11:71274580-71274730	AG04450	lung:	n/a	n/a
24	CTCF	chr11:71274640-71274790	SAEC	small airway:	n/a	n/a
25	CTCF	chr11:71274559-71274861	GM12878	blood:	n/a	n/a
26	CTCF	chr11:71274631-71274846	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:71274629-71274836	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:71274604-71274856	GM13977	blood:	n/a	n/a
29	CTCF	chr11:71274660-71274810	K562	blood:	n/a	n/a
30	CTCF	chr11:71274472-71274958	HepG2	liver:	n/a	n/a
31	CTCF	chr11:71274660-71274810	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr11:71274377-71275076	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr11:71274626-71274816	NHEK	skin:	n/a	n/a
34	CTCF	chr11:71274640-71274790	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr11:71274640-71274790	AG10803	skin:	n/a	n/a
36	CTCF	chr11:71274597-71274861	GM19238	blood:	n/a	n/a
37	CTCF	chr11:71274660-71274810	AG09319	gingival:	n/a	n/a
38	CTCF	chr11:71275000-71275150	BE2_C	brain:	n/a	n/a
39	CTCF	chr11:71274611-71274845	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:71274640-71274790	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr11:71275060-71275210	HCM	heart:	n/a	n/a
42	CTCF	chr11:71274660-71274810	GM12866	blood:	n/a	n/a
43	CTCF	chr11:71274525-71274943	K562	blood:	n/a	n/a
44	CTCF	chr11:71274620-71274770	GM12872	blood:	n/a	n/a
45	CTCF	chr11:71274620-71274770	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr11:71274440-71274590	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr11:71274520-71274670	HVMF	connective:	n/a	n/a
48	CTCF	chr11:71274612-71274830	GM19239	blood:	n/a	n/a
49	CTCF	chr11:71274700-71274850	HAc	cerebellar:	n/a	n/a
50	CTCF	chr11:71274640-71274790	GM12869	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71275784-71275834	MCF10A-Er-Src	breast:	n/a
2	chr11:71275912-71275962	SKMC	muscle:	n/a
3	chr11:71275912-71275962	PrEC	prostate:	n/a
4	chr11:71275912-71275962	Hepatocyte	liver:	n/a
5	chr11:71275784-71275834	HEK293	kidney:	embryo
6	chr11:71275784-71275834	NB4	blood:	n/a
7	chr11:71275912-71275962	SAEC	small airway:	n/a
8	chr11:71275784-71275834	GM12878	blood:	n/a
9	chr11:71275784-71275834	HCF	heart:	n/a
10	chr11:71275784-71275834	AG09309	skin:	n/a
11	chr11:71275912-71275962	CMK	blood:	n/a
12	chr11:71275912-71275962	AG09309	skin:	n/a
13	chr11:71275912-71275962	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:71275784-71275834	GM12891	blood:	n/a
15	chr11:71275784-71275834	HL-60	blood:	n/a
16	chr11:71275912-71275962	GM06990	blood:	n/a
17	chr11:71275912-71275962	HEEpiC	esophagus:	n/a
18	chr11:71275784-71275834	Caco-2	colon:	n/a
19	chr11:71275784-71275834	K562	blood:	n/a
20	chr11:71275784-71275834	RPTEC	kidney:	n/a
21	chr11:71275784-71275834	SK-N-MC	brain:	n/a
22	chr11:71275912-71275962	Jurkat	blood:	n/a
23	chr11:71275912-71275962	AoSMC	blood vessel:	n/a
24	chr11:71275912-71275962	ProgFib	skin:	n/a
25	chr11:71275912-71275962	HCT-116	colon:	n/a
26	chr11:71275912-71275962	RPTEC	kidney:	n/a
27	chr11:71275784-71275834	AG10803	skin:	n/a
28	chr11:71275912-71275962	BJ	skin:	n/a
29	chr11:71275912-71275962	NHDF-neo	bronchial:	n/a
30	chr11:71275784-71275834	PFSK-1	brain:	n/a
31	chr11:71275912-71275962	MCF-7	breast:	n/a
32	chr11:71275912-71275962	HRCEpiC	kidney:	n/a
33	chr11:71275784-71275834	LNCaP	prostate:	n/a
34	chr11:71275784-71275834	T-47D	breast:	n/a
35	chr11:71275912-71275962	HEK293	kidney:	embryo
36	chr11:71275784-71275834	NHDF-neo	bronchial:	n/a
37	chr11:71275912-71275962	AG04450	lung:	fetal
38	chr11:71275912-71275962	SK-N-MC	brain:	n/a
39	chr11:71275912-71275962	HAEpiC	amniotic membrane:	n/a
40	chr11:71275912-71275962	PFSK-1	brain:	n/a
41	chr11:71275912-71275962	GM12878	blood:	n/a
42	chr11:71275912-71275962	SK-N-SH	brain:	n/a
43	chr11:71275784-71275834	HMEC	breast:	n/a
44	chr11:71275784-71275834	AG04449	skin:	fetal
45	chr11:71275784-71275834	HUVEC	blood vessel:	n/a
46	chr11:71275912-71275962	IMR90	lung:	fetal
47	chr11:71275912-71275962	ovcar-3	ovarian:	n/a
48	chr11:71275784-71275834	IMR90	lung:	fetal
49	chr11:71275784-71275834	HRCEpiC	kidney:	n/a
50	chr11:71275784-71275834	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:71189071..71191550-chr11:71272066..71273804,2	MCF-7	breast:
2	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:
3	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:
4	chr11:71272055..71274887-chr11:71280546..71282110,2	K562	blood:
5	chr11:71198148..71200436-chr11:71273726..71275977,2	MCF-7	breast:
6	chr11:71156732..71161621-chr11:71272936..71276184,4	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: 210 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201620261	chr11:71273162-71273163	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs113181503	chr11:71273168-71273169	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368763204	chr11:71273173-71273174	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs569285348	chr11:71273174-71273175	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs371383574	chr11:71273191-71273192	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs185268116	chr11:71273217-71273218	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs575371787	chr11:71273218-71273219	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538434586	chr11:71273286-71273287	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs542362290	chr11:71273335-71273336	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs201829286	chr11:71273370-71273371	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs561085255	chr11:71273385-71273386	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs189739313	chr11:71273387-71273388	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs141706311	chr11:71273391-71273392	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs557142680	chr11:71273392-71273393	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs541645959	chr11:71273473-71273474	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs559596176	chr11:71273505-71273506	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs7106362	chr11:71273517-71273518	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182405212	chr11:71273522-71273523	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs185551014	chr11:71273557-71273558	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs530985770	chr11:71273561-71273562	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs549204444	chr11:71273589-71273590	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs143582052	chr11:71273636-71273637	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567785474	chr11:71273642-71273643	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs191741583	chr11:71273643-71273644	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs373463944	chr11:71273690-71273691	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs546799349	chr11:71273730-71273731	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs571534561	chr11:71273735-71273736	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs139430489	chr11:71273752-71273753	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs144090812	chr11:71273883-71273884	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183573353	chr11:71273942-71273943	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557703253	chr11:71273974-71273975	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs146494940	chr11:71274019-71274020	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs149059046	chr11:71274022-71274023	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs11234193	chr11:71274027-71274028	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571546993	chr11:71274059-71274060	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs529098785	chr11:71274086-71274087	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs117743072	chr11:71274107-71274108	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs75495043	chr11:71274130-71274131	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs541238229	chr11:71274140-71274141	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs79702864	chr11:71274146-71274147	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs78010364	chr11:71274150-71274151	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs79805233	chr11:71274158-71274159	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs79414968	chr11:71274181-71274182	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs76157979	chr11:71274191-71274192	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs78384840	chr11:71274218-71274219	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs75021914	chr11:71274231-71274232	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs77106283	chr11:71274236-71274237	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs189013573	chr11:71274247-71274248	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs79071621	chr11:71274260-71274261	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs77990334	chr11:71274265-71274266	Bivalent Enhancer	TF binding 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:24 , 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

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