Variant report

Variant	esv11587
Chromosome Location	chr11:71274225-71275220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:228)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:228 , 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	AG10803	skin:	n/a	n/a
6	CTCF	chr11:71274700-71274850	GM12869	blood:	n/a	n/a
7	CTCF	chr11:71274680-71274830	GM12871	blood:	n/a	n/a
8	CTCF	chr11:71274580-71274730	BJ	skin:	n/a	n/a
9	CTCF	chr11:71275020-71275170	GM12875	blood:	n/a	n/a
10	CTCF	chr11:71274680-71274830	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr11:71274634-71274814	Lung_OC	lung:	n/a	n/a
12	CTCF	chr11:71274660-71274810	GM12875	blood:	n/a	n/a
13	CTCF	chr11:71274606-71274854	GM19240	blood:	n/a	n/a
14	CTCF	chr11:71274660-71274810	WI-38	lung:	n/a	n/a
15	CTCF	chr11:71274720-71274870	A549	lung:	n/a	n/a
16	CTCF	chr11:71274640-71274790	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr11:71274640-71274790	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr11:71274604-71274856	GM13977	blood:	n/a	n/a
19	CTCF	chr11:71274397-71274955	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:71274660-71274810	GM12873	blood:	n/a	n/a
21	CTCF	chr11:71274472-71274958	HepG2	liver:	n/a	n/a
22	CTCF	chr11:71274660-71274810	GM12872	blood:	n/a	n/a
23	CTCF	chr11:71274500-71274877	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr11:71274700-71274850	HAc	cerebellar:	n/a	n/a
25	CTCF	chr11:71274422-71274998	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:71274495-71274938	GM12878	blood:	n/a	n/a
27	CTCF	chr11:71274620-71274770	GM12872	blood:	n/a	n/a
28	CTCF	chr11:71274640-71274790	SAEC	small airway:	n/a	n/a
29	CTCF	chr11:71275110-71275177	GM20000	blood:	n/a	n/a
30	CTCF	chr11:71274540-71274690	A549	lung:	n/a	n/a
31	CTCF	chr11:71274660-71274810	HCT-116	colon:	n/a	n/a
32	CTCF	chr11:71274660-71274810	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr11:71274595-71274841	Fibrobl	skin:	n/a	n/a
34	CTCF	chr11:71274540-71274690	HCM	heart:	n/a	n/a
35	CTCF	chr11:71274580-71274730	AG04450	lung:	n/a	n/a
36	CTCF	chr11:71274597-71274847	A549	lung:	n/a	n/a
37	CTCF	chr11:71274612-71274830	GM19239	blood:	n/a	n/a
38	CTCF	chr11:71274680-71274830	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr11:71274620-71274770	BJ	skin:	n/a	n/a
40	CTCF	chr11:71274660-71274810	HPF	lung:	n/a	n/a
41	CTCF	chr11:71275040-71275310	GM12870	blood:	n/a	n/a
42	CTCF	chr11:71274597-71274861	GM19238	blood:	n/a	n/a
43	CTCF	chr11:71274660-71274810	HL-60	blood:	n/a	n/a
44	CTCF	chr11:71274617-71274850	GM10248	blood:	n/a	n/a
45	CTCF	chr11:71274640-71274790	Caco-2	colon:	n/a	n/a
46	CTCF	chr11:71274377-71275076	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr11:71274620-71274770	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr11:71274620-71274770	HMF	breast:	n/a	n/a
49	CTCF	chr11:71274680-71274830	GM12867	blood:	n/a	n/a
50	CTCF	chr11:71274651-71274809	Kidney_OC	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 84 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75021914	chr11:71274231-71274232	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs77106283	chr11:71274236-71274237	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs189013573	chr11:71274247-71274248	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs79071621	chr11:71274260-71274261	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs77990334	chr11:71274265-71274266	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs76701459	chr11:71274282-71274283	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs75569384	chr11:71274286-71274287	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144432695	chr11:71274293-71274294	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs563683178	chr11:71274306-71274307	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs143101596	chr11:71274345-71274346	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533429141	chr11:71274352-71274353	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs78824092	chr11:71274353-71274354	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs78093986	chr11:71274367-71274368	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs75863000	chr11:71274368-71274369	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs77977057	chr11:71274377-71274378	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs543040479	chr11:71274390-71274391	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs561200245	chr11:71274398-71274399	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs528604048	chr11:71274432-71274433	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs546778877	chr11:71274443-71274444	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs571473067	chr11:71274444-71274445	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs200152323	chr11:71274462-71274463	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs532397389	chr11:71274503-71274504	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs550886523	chr11:71274508-71274509	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs569210883	chr11:71274520-71274521	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs535850453	chr11:71274522-71274523	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs117235285	chr11:71274527-71274528	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs78105622	chr11:71274543-71274544	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs79830585	chr11:71274578-71274579	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs74714711	chr11:71274579-71274580	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs373655350	chr11:71274582-71274583	Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs74791057	chr11:71274610-71274611	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs79499001	chr11:71274627-71274628	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs566411115	chr11:71274628-71274629	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs78931062	chr11:71274633-71274634	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs75969118	chr11:71274634-71274635	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs74838991	chr11:71274655-71274656	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs76226497	chr11:71274659-71274660	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs10792783	chr11:71274671-71274672	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76875127	chr11:71274672-71274673	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs76312778	chr11:71274684-71274685	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs80015845	chr11:71274693-71274694	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs577811732	chr11:71274697-71274698	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545236316	chr11:71274706-71274707	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs36100017	chr11:71274728-71274729	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs575919766	chr11:71274729-71274730	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs193149070	chr11:71274753-71274754	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs36045400	chr11:71274758-71274759	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs10792784	chr11:71274790-71274791	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs368669445	chr11:71274791-71274792	Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs569691183	chr11:71274810-71274811	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:20 , 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

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