Variant report

Variant	esv1847422
Chromosome Location	chr11:50697223-51342126
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1869)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1869 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

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	ARID3A	chr11:50712564-50712666	K562	blood:	n/a	n/a
3	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
4	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
5	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
6	ATF1	chr11:50757990-50758182	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	chr11:50755176-50755720	K562	blood:	n/a	n/a
10	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
11	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
12	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
13	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
14	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
15	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
16	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
17	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
19	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
20	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
21	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
22	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
23	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
24	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
25	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
26	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
27	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
28	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
29	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
30	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
31	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
32	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
33	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
34	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
35	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
36	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
37	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
38	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
39	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
40	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
41	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
42	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
43	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
44	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
45	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
46	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
47	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
48	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
49	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:51199021-51199258	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: 18407 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:18407 , 50 per page) page: 1 2 3 4 5 6 7 ... 369

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2193337	chr11:50697223-50697224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79661300	chr11:50697224-50697225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201934647	chr11:50697226-50697227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs114451674	chr11:50697251-50697252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs554668526	chr11:50697261-50697262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577648155	chr11:50697279-50697280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574474326	chr11:50697290-50697291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190755626	chr11:50697293-50697294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553645185	chr11:50697315-50697316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527653619	chr11:50697320-50697321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200587738	chr11:50697328-50697329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370408457	chr11:50697329-50697330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs577018804	chr11:50697345-50697346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545788113	chr11:50697347-50697348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562667840	chr11:50697352-50697353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200688140	chr11:50697353-50697354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138658563	chr11:50697367-50697368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541925552	chr11:50697374-50697375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561801077	chr11:50697391-50697392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182082960	chr11:50697392-50697393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547464093	chr11:50697400-50697401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77470636	chr11:50697427-50697428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563931655	chr11:50697436-50697437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs374979774	chr11:50697439-50697440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552612834	chr11:50697440-50697441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575956952	chr11:50697443-50697444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4353273	chr11:50697447-50697448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114322389	chr11:50697468-50697469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs189872689	chr11:50697476-50697477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182094493	chr11:50697493-50697494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2313927	chr11:50697498-50697499	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554180347	chr11:50697511-50697512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577153985	chr11:50697536-50697537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539749356	chr11:50697545-50697546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147820570	chr11:50697548-50697549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs143239754	chr11:50697558-50697559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556156076	chr11:50697562-50697563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185783967	chr11:50697563-50697564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542003543	chr11:50697572-50697573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145373441	chr11:50697581-50697582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs367630968	chr11:50697587-50697588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113554979	chr11:50697603-50697604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572216606	chr11:50697606-50697607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541116624	chr11:50697607-50697608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561717325	chr11:50697623-50697624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs8186241	chr11:50697624-50697625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs8186561	chr11:50697630-50697631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112936432	chr11:50697644-50697645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201041843	chr11:50697647-50697648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs138391877	chr11:50697652-50697653	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:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50685600-50697600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:50694800-50698000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:50699000-50699400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:50699200-50699400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr11:50699200-50699600	Active TSS	Aorta	Aorta
6	chr11:50699200-50699600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
7	chr11:50699800-50700000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
8	chr11:50709600-50752200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr11:50710400-50711000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr11:50710400-50718000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:50711400-50711600	ZNF genes & repeats	HepG2	liver
12	chr11:50716800-50717200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:50717200-50722000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:50717600-50729000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:50717800-50726200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr11:50718200-50718400	ZNF genes & repeats	HepG2	liver
17	chr11:50720800-50730000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:50721600-50721800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:50721600-50722000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:50721600-50723800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr11:50721600-50724800	ZNF genes & repeats	Liver	Liver
22	chr11:50722000-50723200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:50722400-50724200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr11:50722600-50725800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:50722800-50723200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr11:50722800-50723200	Active TSS	NHDF-Ad	bronchial
27	chr11:50724200-50724800	Enhancers	Aorta	Aorta
28	chr11:50724600-50726000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:50724800-50725600	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr11:50724800-50738400	Weak transcription	Aorta	Aorta
31	chr11:50725600-50725800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:50730800-50737000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:50730800-50770200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr11:50731000-50731200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:50731000-50731400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:50731000-50731400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr11:50731000-50731600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr11:50731000-50732000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr11:50732200-50732600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:50733600-50738400	Weak transcription	NH-A	brain
41	chr11:50734200-50734400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:50734400-50734600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr11:50734600-50738400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:50735800-50741600	Weak transcription	NHDF-Ad	bronchial
45	chr11:50736200-50737000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr11:50736600-50737000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr11:50737000-50738400	Weak transcription	GM12878-XiMat	blood
48	chr11:50738000-50747600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr11:50738200-50738800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr11:50738200-50739000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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