Variant report

Variant	nsv897549
Chromosome Location	chr11:50522307-51385894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2591)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2591 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:50712564-50712666	K562	blood:	n/a	n/a
2	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
3	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
4	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
5	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
6	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
7	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
8	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
9	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
10	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
11	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
12	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
13	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
14	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
15	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
16	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
17	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
18	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
19	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
21	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
22	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
23	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
24	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
25	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
26	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
27	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
28	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
29	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
30	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
31	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
32	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
33	BATF	chr11:50676256-50676541	GM12878	blood:	n/a	n/a
34	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
35	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
36	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
37	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
38	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
39	BATF	chr11:50685636-50685821	GM12878	blood:	n/a	n/a
40	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
41	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
42	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
43	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
44	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
45	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
46	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
47	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
48	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
49	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
50	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a

No data

(count:2 , 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:
2	chr11:50670378..50671219-chr4:101762576..101763076,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 31085 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:31085 , 50 per page) page: 1 2 3 4 5 6 7 ... 622

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11245742	chr11:50522307-50522308	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151275307	chr11:50522308-50522309	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs565356929	chr11:50522352-50522353	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs575842220	chr11:50522353-50522354	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs140476656	chr11:50522359-50522360	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs11245743	chr11:50522362-50522363	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs529898752	chr11:50522371-50522372	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs546879529	chr11:50522372-50522373	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs180993365	chr11:50522388-50522389	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs532328646	chr11:50522391-50522392	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs551990377	chr11:50522395-50522396	ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs568580183	chr11:50522409-50522410	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200437482	chr11:50522451-50522452	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183732492	chr11:50522453-50522454	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572681279	chr11:50522470-50522471	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184527631	chr11:50522484-50522485	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77827844	chr11:50522491-50522492	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199806504	chr11:50522492-50522493	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79768674	chr11:50522495-50522496	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114759926	chr11:50522497-50522498	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188159720	chr11:50522499-50522500	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553627083	chr11:50522518-50522519	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181353079	chr11:50522528-50522529	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185511016	chr11:50522550-50522551	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191608153	chr11:50522565-50522566	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181783627	chr11:50522567-50522568	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575778943	chr11:50522582-50522583	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544718517	chr11:50522603-50522604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147040047	chr11:50522647-50522648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574763703	chr11:50522659-50522660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540312981	chr11:50522660-50522661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138265832	chr11:50522704-50522705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549892116	chr11:50522749-50522750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558566888	chr11:50522756-50522757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143809908	chr11:50522783-50522784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551927000	chr11:50522802-50522803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562349085	chr11:50522803-50522804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575544329	chr11:50522807-50522808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547873285	chr11:50522811-50522812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187409582	chr11:50522829-50522830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146223194	chr11:50522834-50522835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192195985	chr11:50522835-50522836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182308897	chr11:50522839-50522840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568109847	chr11:50522855-50522856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527258114	chr11:50522860-50522861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77609962	chr11:50522873-50522874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567119050	chr11:50522875-50522876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75277479	chr11:50522876-50522877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77120089	chr11:50522878-50522879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539361039	chr11:50522902-50522903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Autism	22495309	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50522000-50523000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr11:50522000-50526000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:50522000-50528400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr11:50522200-50522400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:50522200-50522600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr11:50522200-50522600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr11:50522200-50522600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:50522200-50522600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:50522200-50522600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:50522200-50522600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr11:50522200-50522600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr11:50522200-50522600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:50522200-50522600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:50522200-50522600	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr11:50522200-50522600	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr11:50522200-50522600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr11:50522200-50522600	ZNF genes & repeats	HUVEC	blood vessel
22	chr11:50522200-50522600	ZNF genes & repeats	K562	blood
23	chr11:50522200-50522600	ZNF genes & repeats	NH-A	brain
24	chr11:50522200-50522800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr11:50522200-50522800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:50522200-50522800	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr11:50522200-50522800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr11:50522200-50522800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
29	chr11:50522200-50523200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:50522200-50524600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr11:50522200-50525000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr11:50522400-50522600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
33	chr11:50522400-50522600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:50522400-50522600	Enhancers	HSMMtube	muscle
35	chr11:50522400-50525000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr11:50522600-50524800	Weak transcription	NH-A	brain
37	chr11:50523600-50523800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:50526000-50526600	Active TSS	Right Atrium	heart
39	chr11:50527600-50547400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:50529400-50537400	ZNF genes & repeats	Liver	Liver
41	chr11:50529600-50532200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr11:50530200-50533000	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr11:50534400-50540000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr11:50535200-50537000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr11:50536200-50538600	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr11:50537800-50542800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr11:50541200-50542400	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr11:50544400-50546000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr11:50545400-50545600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr11:50548600-50551200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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