Variant report

Variant	esv1850679
Chromosome Location	chr11:50713402-51353291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1736)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1736 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
2	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
3	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
4	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
5	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
6	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
7	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
8	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
9	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
10	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
11	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
12	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
13	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
14	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
15	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
16	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
17	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
18	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
20	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
21	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
22	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
23	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
24	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
25	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
26	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
27	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
28	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
29	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
30	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
31	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
32	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
33	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
34	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
35	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
36	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
37	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
38	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
39	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
40	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
41	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
42	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
43	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
44	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:50767581-50767896	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:50742998-50743385	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:50749864-50750376	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:50751907-50752111	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:50764003-50764304	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:50772281-50772426	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:50731452..50731974-chr8:46856234..46856754,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 17924 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:17924 , 50 per page) page: 1 2 3 4 5 6 7 ... 359

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11530918	chr11:50713402-50713403	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556530507	chr11:50713410-50713411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs11245848	chr11:50713425-50713426	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559777740	chr11:50713427-50713428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541677548	chr11:50713428-50713429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4980490	chr11:50713432-50713433	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554234569	chr11:50713437-50713438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572055002	chr11:50713445-50713446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149944233	chr11:50713450-50713451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563833975	chr11:50713466-50713467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs532804150	chr11:50713467-50713468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs77552919	chr11:50713484-50713485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576694489	chr11:50713511-50713512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563068782	chr11:50713528-50713529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532005435	chr11:50713543-50713544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs548513047	chr11:50713556-50713557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568602811	chr11:50713557-50713558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534293853	chr11:50713568-50713569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74501575	chr11:50713591-50713592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201430413	chr11:50713599-50713600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77441129	chr11:50713604-50713605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79635398	chr11:50713607-50713608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76037621	chr11:50713608-50713609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs77150056	chr11:50713611-50713612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79519058	chr11:50713612-50713613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77612625	chr11:50713613-50713614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76212053	chr11:50713614-50713615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79840983	chr11:50713615-50713616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77115777	chr11:50713618-50713619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs79419142	chr11:50713619-50713620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74680472	chr11:50713621-50713622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77357013	chr11:50713622-50713623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77408860	chr11:50713623-50713624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78454259	chr11:50713624-50713625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs202068844	chr11:50713625-50713626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79300369	chr11:50713626-50713627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79931175	chr11:50713627-50713628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77166408	chr11:50713630-50713631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77790579	chr11:50713631-50713632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201936217	chr11:50713633-50713634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs80183070	chr11:50713636-50713637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs61892445	chr11:50713638-50713639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76433276	chr11:50713640-50713641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs80045984	chr11:50713642-50713643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201085540	chr11:50713646-50713647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs79119556	chr11:50713647-50713648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188387894	chr11:50713654-50713655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539868725	chr11:50713655-50713656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs373359941	chr11:50713659-50713660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556490856	chr11:50713662-50713663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Mortal	21835882	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Bipolar disorder	19214233	CNVD
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Williams Syndrome	20824207	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50709600-50752200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:50710400-50718000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:50716800-50717200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:50717200-50722000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:50717600-50729000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:50717800-50726200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr11:50718200-50718400	ZNF genes & repeats	HepG2	liver
8	chr11:50720800-50730000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:50721600-50721800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:50721600-50722000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:50721600-50723800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr11:50721600-50724800	ZNF genes & repeats	Liver	Liver
13	chr11:50722000-50723200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:50722400-50724200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr11:50722600-50725800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:50722800-50723200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr11:50722800-50723200	Active TSS	NHDF-Ad	bronchial
18	chr11:50724200-50724800	Enhancers	Aorta	Aorta
19	chr11:50724600-50726000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:50724800-50725600	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr11:50724800-50738400	Weak transcription	Aorta	Aorta
22	chr11:50725600-50725800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:50730800-50737000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:50730800-50770200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr11:50731000-50731200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:50731000-50731400	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:50731000-50731400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr11:50731000-50731600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr11:50731000-50732000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr11:50732200-50732600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:50733600-50738400	Weak transcription	NH-A	brain
32	chr11:50734200-50734400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:50734400-50734600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr11:50734600-50738400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:50735800-50741600	Weak transcription	NHDF-Ad	bronchial
36	chr11:50736200-50737000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr11:50736600-50737000	ZNF genes & repeats	GM12878-XiMat	blood
38	chr11:50737000-50738400	Weak transcription	GM12878-XiMat	blood
39	chr11:50738000-50747600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr11:50738200-50738800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr11:50738200-50739000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:50738400-50738600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr11:50738400-50738600	Flanking Active TSS	Aorta	Aorta
44	chr11:50738400-50738600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr11:50738400-50738800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:50738400-50738800	Active TSS	Psoas Muscle	Psoas
47	chr11:50738400-50738800	Active TSS	Stomach Mucosa	stomach
48	chr11:50738400-50738800	ZNF genes & repeats	GM12878-XiMat	blood
49	chr11:50738400-50738800	ZNF genes & repeats	HUVEC	blood vessel
50	chr11:50738400-50738800	ZNF genes & repeats	NH-A	brain

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