Variant report

Variant	esv2757443
Chromosome Location	chr11:49581925-49862647
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	BACH1	chr11:49714575-49714772	K562	blood:	n/a	n/a
2	BATF	chr11:49851722-49851990	GM12878	blood:	n/a	n/a
3	BATF	chr11:49844365-49844744	GM12878	blood:	n/a	chr11:49844482-49844492
4	BATF	chr11:49844388-49844674	GM12878	blood:	n/a	chr11:49844482-49844492
5	BATF	chr11:49851774-49851972	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:49851712-49851919	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:49844437-49844676	GM12878	blood:	n/a	n/a
8	CEBPB	chr11:49795023-49795152	Hela-S3	cervix:	n/a	chr11:49795070-49795079 chr11:49795068-49795079
9	CEBPB	chr11:49795006-49795236	HepG2	liver:	n/a	chr11:49795070-49795079 chr11:49795068-49795079 chr11:49795170-49795181 chr11:49795170-49795181
10	CEBPB	chr11:49794955-49795202	IMR90	lung:	n/a	chr11:49795070-49795079 chr11:49795068-49795079 chr11:49795170-49795181 chr11:49795170-49795181
11	CEBPB	chr11:49627187-49627468	HepG2	liver:	n/a	chr11:49627349-49627360 chr11:49627349-49627362
12	CEBPB	chr11:49633957-49634229	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr11:49627245-49627460	A549	lung:	n/a	chr11:49627349-49627360 chr11:49627349-49627362
14	CEBPB	chr11:49717874-49718074	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr11:49856098-49856319	HepG2	liver:	n/a	chr11:49856132-49856143
16	CEBPB	chr11:49856090-49856321	IMR90	lung:	n/a	chr11:49856132-49856143
17	CEBPB	chr11:49782954-49783111	HepG2	liver:	n/a	chr11:49782976-49782987
18	CEBPB	chr11:49709885-49710073	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr11:49856078-49856257	A549	lung:	n/a	chr11:49856132-49856143
20	CEBPB	chr11:49821217-49821358	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr11:49615707-49615848	HepG2	liver:	n/a	chr11:49615780-49615791 chr11:49615782-49615791 chr11:49615781-49615792 chr11:49615780-49615793
22	CEBPB	chr11:49795019-49795235	A549	lung:	n/a	chr11:49795070-49795079 chr11:49795068-49795079 chr11:49795170-49795181 chr11:49795170-49795181
23	CTCF	chr11:49851400-49851423	LNCaP	prostate:	n/a	n/a
24	CTCF	chr11:49849334-49849359	LNCaP	prostate:	n/a	n/a
25	CTCF	chr11:49763613-49763782	GM12878	blood:	n/a	n/a
26	CTCF	chr11:49845287-49845339	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:49763643-49763778	A549	lung:	n/a	n/a
28	CTCF	chr11:49582961-49583054	MCF-7	breast:	n/a	chr11:49582988-49583001 chr11:49582991-49583004
29	CTCF	chr11:49858672-49858701	GM13976	blood:	n/a	n/a
30	CTCF	chr11:49851075-49851087	LNCaP	prostate:	n/a	n/a
31	CTCF	chr11:49777938-49778038	Lung_OC	lung:	n/a	n/a
32	CTCF	chr11:49668814-49668846	Fibrobl	skin:	n/a	n/a
33	CTCF	chr11:49723821-49723901	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr11:49849464-49849508	LNCaP	prostate:	n/a	n/a
35	CTCF	chr11:49810246-49810272	GM13976	blood:	n/a	n/a
36	CTCF	chr11:49601847-49601888	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr11:49763634-49763793	MCF-7	breast:	n/a	n/a
38	CTCF	chr11:49810273-49810286	GM13976	blood:	n/a	n/a
39	CTCF	chr11:49582218-49582313	MCF-7	breast:	n/a	chr11:49582259-49582277 chr11:49582260-49582276 chr11:49582261-49582282
40	CTCF	chr11:49617523-49617596	GM20000	blood:	n/a	n/a
41	CTCF	chr11:49763652-49763782	ProgFib	skin:	n/a	n/a
42	CTCF	chr11:49684009-49684066	LNCaP	prostate:	n/a	n/a
43	CTCF	chr11:49730807-49730848	GM20000	blood:	n/a	n/a
44	CTCF	chr11:49582951-49583073	NHEK	skin:	n/a	chr11:49582988-49583001 chr11:49582991-49583004
45	CTCF	chr11:49851091-49851158	LNCaP	prostate:	n/a	n/a
46	CTCF	chr11:49763631-49763779	GM19238	blood:	n/a	n/a
47	CTCF	chr11:49837245-49837320	Lung_OC	lung:	n/a	n/a
48	CTCF	chr11:49723821-49723897	GM12878	blood:	n/a	n/a
49	CTCF	chr11:49763651-49763775	GM19240	blood:	n/a	n/a
50	CTCF	chr11:49851425-49851464	LNCaP	prostate:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49837068-49837118	HUVEC	blood vessel:	n/a
2	chr11:49837068-49837118	HUVEC	blood vessel:	n/a
3	chr11:49802564-49802614	Jurkat	blood:	n/a
4	chr11:49820620-49820670	PrEC	prostate:	n/a
5	chr11:49839281-49839331	HIPEpiC	eye:	n/a
6	chr11:49802535-49802585	CMK	blood:	n/a
7	chr11:49582375-49582425	PrEC	prostate:	n/a
8	chr11:49837274-49837324	NT2-D1	testis:	n/a
9	chr11:49583127-49583177	HCM	heart:	n/a
10	chr11:49820620-49820670	HCM	heart:	n/a
11	chr11:49820620-49820670	HIPEpiC	eye:	n/a
12	chr11:49838266-49838316	SKMC	muscle:	n/a
13	chr11:49820620-49820670	GM19239	blood:	n/a
14	chr11:49839512-49839562	NHBE	bronchial:	n/a
15	chr11:49839836-49839886	BJ	skin:	n/a
16	chr11:49583127-49583177	CMK	blood:	n/a
17	chr11:49820620-49820670	NHDF-neo	bronchial:	n/a
18	chr11:49862012-49862062	GM12892	blood:	n/a
19	chr11:49582872-49582922	HepG2	liver:	n/a
20	chr11:49839836-49839886	A549	lung:	n/a
21	chr11:49582375-49582425	MCF-7	breast:	n/a
22	chr11:49802535-49802585	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:49839836-49839886	HCM	heart:	n/a
24	chr11:49582872-49582922	HIPEpiC	eye:	n/a
25	chr11:49839836-49839886	K562	blood:	n/a
26	chr11:49837219-49837269	ovcar-3	ovarian:	n/a
27	chr11:49583127-49583177	HCT-116	colon:	n/a
28	chr11:49843431-49843481	CMK	blood:	n/a
29	chr11:49837068-49837118	Jurkat	blood:	n/a
30	chr11:49582375-49582425	PFSK-1	brain:	n/a
31	chr11:49582375-49582425	GM12891	blood:	n/a
32	chr11:49582375-49582425	Jurkat	blood:	n/a
33	chr11:49837219-49837269	H1-hESC	embryonic stem cell:	embryo
34	chr11:49583127-49583177	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:49839512-49839562	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:49839836-49839886	U87	brain:	n/a
37	chr11:49583127-49583177	HIPEpiC	eye:	n/a
38	chr11:49837068-49837118	ECC-1	luminal epithelium:	n/a
39	chr11:49836586-49836636	Hela-S3	cervix:	n/a
40	chr11:49839836-49839886	ovcar-3	ovarian:	n/a
41	chr11:49802564-49802614	ProgFib	skin:	n/a
42	chr11:49836586-49836636	HCF	heart:	n/a
43	chr11:49838266-49838316	AG09309	skin:	n/a
44	chr11:49839281-49839331	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:49802535-49802585	GM12878	blood:	n/a
46	chr11:49802564-49802614	HAEpiC	amniotic membrane:	n/a
47	chr11:49836586-49836636	HEEpiC	esophagus:	n/a
48	chr11:49839512-49839562	GM19239	blood:	n/a
49	chr11:49582375-49582425	GM12878	blood:	n/a
50	chr11:49839512-49839562	SK-N-SH_RA	brain:	n/a

Variant related genes	Relation type
ENSG00000254487	TF binding region
TRIM51FP	TF binding region
ENSG00000255268	TF binding region
ENSG00000205035	TF binding region
ENSG00000254487	CpG island
TRIM51FP	CpG island
ENSG00000255268	CpG island
ENSG00000205035	CpG island

Extended variants
information (count: 359 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11040428	chr11:49581925-49581926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182222990	chr11:49581940-49581941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143584005	chr11:49581949-49581950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571848730	chr11:49581960-49581961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7479975	chr11:49581964-49581965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376401241	chr11:49582056-49582057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7108779	chr11:49582085-49582086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113384016	chr11:49582104-49582105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543365945	chr11:49582130-49582131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553169692	chr11:49582134-49582135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187760718	chr11:49582173-49582174	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs542764676	chr11:49582183-49582184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371555901	chr11:49582248-49582249	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192678731	chr11:49582287-49582288	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs61904167	chr11:49582300-49582301	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564490807	chr11:49582306-49582307	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533331654	chr11:49582347-49582348	Weak transcription Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550210531	chr11:49582389-49582390	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570291184	chr11:49582393-49582394	Weak transcription Bivalent/Poised TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535765998	chr11:49582408-49582409	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3974442	chr11:49582457-49582458	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10839303	chr11:49582462-49582463	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557396415	chr11:49582465-49582466	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577585670	chr11:49582466-49582467	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10769589	chr11:49582504-49582505	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556982322	chr11:49582515-49582516	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564480968	chr11:49582517-49582518	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573917783	chr11:49582520-49582521	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542537708	chr11:49582536-49582537	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369206930	chr11:49582619-49582620	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559623529	chr11:49582629-49582630	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148067947	chr11:49582667-49582668	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541563221	chr11:49582677-49582678	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564525342	chr11:49582680-49582681	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533182580	chr11:49582692-49582693	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550191040	chr11:49582725-49582726	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61904168	chr11:49582844-49582845	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529617966	chr11:49582870-49582871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549249031	chr11:49582911-49582912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565948825	chr11:49582912-49582913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534858598	chr11:49582949-49582950	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs551061898	chr11:49582959-49582960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375273494	chr11:49582962-49582963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs571278887	chr11:49583076-49583077	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189752729	chr11:49583120-49583121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192943962	chr11:49583155-49583156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4486631	chr11:49583160-49583161	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141585475	chr11:49583193-49583194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs553279447	chr11:49583212-49583213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146215677	chr11:49583219-49583220	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49581200-49582200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:49581400-49582400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:49581400-49582800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:49582200-49582400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr11:49582200-49584400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:49582400-49582600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:49582400-49582600	Enhancers	Fetal Brain Female	brain
8	chr11:49582400-49583400	Active TSS	Brain Hippocampus Middle	brain
9	chr11:49582400-49584400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:49582600-49582800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:49582600-49583200	Active TSS	Fetal Brain Female	brain
12	chr11:49582800-49583200	Active TSS	Brain Germinal Matrix	brain
13	chr11:49582800-49583600	Active TSS	Brain Cingulate Gyrus	brain
14	chr11:49582800-49584400	Active TSS	Brain Angular Gyrus	brain
15	chr11:49582800-49584400	Active TSS	Brain Anterior Caudate	brain
16	chr11:49660800-49661200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:49695200-49695400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:49696200-49696800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr11:49699000-49699400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:49699000-49699400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:49802200-49802800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:49802400-49802800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:49812000-49812800	Enhancers	Dnd41	blood
24	chr11:49839400-49839600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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