Variant report

Variant	nsv1042012
Chromosome Location	chr11:50611124-51337246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2447)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2447 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

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	chr11:50771363-50771551	K562	blood:	n/a	n/a
4	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
5	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
6	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
7	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
8	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
9	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
10	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
11	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
12	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
13	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
14	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
15	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
16	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
17	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
18	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
19	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
20	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
21	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
22	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
24	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
25	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
26	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
27	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
28	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
29	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
30	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
31	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
32	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
33	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
34	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
35	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
36	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
37	BATF	chr11:50685636-50685821	GM12878	blood:	n/a	n/a
38	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
39	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
40	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
41	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
42	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
43	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
44	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
45	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
46	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
47	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
48	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
49	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
50	BATF	chr11:50772285-50772433	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: 24690 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:24690 , 50 per page) page: 1 2 3 4 5 6 7 ... 494

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10902006	chr11:50611124-50611125	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539989458	chr11:50611137-50611138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550442313	chr11:50611158-50611159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11534623	chr11:50611167-50611168	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535988682	chr11:50611168-50611169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111447956	chr11:50611185-50611186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375372935	chr11:50611187-50611188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113566610	chr11:50611211-50611212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555775385	chr11:50611227-50611228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572375745	chr11:50611241-50611242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183680361	chr11:50611247-50611248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs58909989	chr11:50611261-50611262	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577907037	chr11:50611269-50611270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543203832	chr11:50611279-50611280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186964085	chr11:50611284-50611285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573382430	chr11:50611343-50611344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs72907172	chr11:50611348-50611349	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529401537	chr11:50611352-50611353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs138019520	chr11:50611353-50611354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544680360	chr11:50611370-50611371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs117501668	chr11:50611393-50611394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533706789	chr11:50611395-50611396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs149487979	chr11:50611431-50611432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570289834	chr11:50611445-50611446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs529531565	chr11:50611452-50611453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4980467	chr11:50611456-50611457	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374120171	chr11:50611463-50611464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs535014562	chr11:50611470-50611471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557907181	chr11:50611485-50611486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571505135	chr11:50611496-50611497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs34551445	chr11:50611500-50611501	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78297458	chr11:50611510-50611511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143057418	chr11:50611557-50611558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs148194205	chr11:50611562-50611563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557193694	chr11:50611570-50611571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552983888	chr11:50611574-50611575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs572896670	chr11:50611582-50611583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544977341	chr11:50611589-50611590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs550900823	chr11:50611604-50611605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs61892763	chr11:50611619-50611620	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10902007	chr11:50611626-50611627	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs563986398	chr11:50611630-50611631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11820619	chr11:50611632-50611633	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549359803	chr11:50611633-50611634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs71483015	chr11:50611634-50611635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191333271	chr11:50611656-50611657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs528613542	chr11:50611681-50611682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs57722324	chr11:50611689-50611690	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571282239	chr11:50611693-50611694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533020001	chr11:50611780-50611781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50609800-50611200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:50609800-50612200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr11:50610000-50611600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:50610000-50612000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr11:50610200-50611800	ZNF genes & repeats	Liver	Liver
6	chr11:50614000-50630600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:50614800-50620600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr11:50616200-50620000	ZNF genes & repeats	Liver	Liver
9	chr11:50617400-50619400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr11:50623400-50626400	ZNF genes & repeats	Liver	Liver
11	chr11:50623600-50623800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr11:50624800-50627200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr11:50625600-50630400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr11:50627000-50638800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:50630600-50631400	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr11:50632400-50634200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:50634200-50639400	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr11:50636600-50637000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:50637400-50640200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:50637600-50638400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr11:50638200-50639800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr11:50641200-50646400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:50641600-50642400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr11:50641600-50642400	ZNF genes & repeats	Liver	Liver
25	chr11:50641800-50642400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:50641800-50642400	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr11:50641800-50642400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr11:50641800-50652400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr11:50642000-50642200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
30	chr11:50642000-50653800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr11:50643800-50648800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr11:50643800-50652000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr11:50644200-50644400	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr11:50644800-50645400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:50647200-50647400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr11:50647200-50647400	ZNF genes & repeats	HepG2	liver
37	chr11:50647200-50647600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr11:50647200-50647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:50647200-50647600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:50647200-50647600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr11:50647200-50647600	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:50647200-50648400	ZNF genes & repeats	HUVEC	blood vessel
43	chr11:50647600-50649400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:50647800-50650000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:50649400-50649600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:50649400-50649800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr11:50649400-50649800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr11:50649400-50649800	Active TSS	Aorta	Aorta
49	chr11:50649400-50649800	ZNF genes & repeats	HUVEC	blood vessel
50	chr11:50649600-50649800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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