Variant report

Variant	nsv1044608
Chromosome Location	chr11:50472064-51328785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2629)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2629 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

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	chr11:50755176-50755720	K562	blood:	n/a	n/a
4	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
5	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
6	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
7	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
8	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
9	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
10	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
11	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
12	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
13	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
14	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
15	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
16	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
17	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
18	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
20	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
21	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
22	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
23	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
24	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
25	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
26	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
27	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
28	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
29	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
30	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
31	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
32	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
33	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
34	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
35	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
36	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
37	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
38	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
39	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
40	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
41	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
42	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
43	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
44	BATF	chr11:50685636-50685821	GM12878	blood:	n/a	n/a
45	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
46	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
47	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
48	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
49	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
50	BATF	chr11:50676256-50676541	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	chr11:50670378..50671219-chr4:101762576..101763076,2	MCF-7	breast:
2	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: 32199 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:32199 , 50 per page) page: 1 2 3 4 5 6 7 ... 644

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572775792	chr11:50472817-50472818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538228657	chr11:50472852-50472853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs147052591	chr11:50472860-50472861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560714057	chr11:50472874-50472875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557191617	chr11:50472883-50472884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2872385	chr11:50472902-50472903	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138314239	chr11:50472916-50472917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs143860577	chr11:50472933-50472934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572816890	chr11:50472935-50472936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187444139	chr11:50472958-50472959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7123452	chr11:50472981-50472982	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574983560	chr11:50472987-50472988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs543654163	chr11:50472996-50472997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563541867	chr11:50473010-50473011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs8188926	chr11:50473011-50473012	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376690679	chr11:50473017-50473018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559776077	chr11:50473032-50473033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117559791	chr11:50473035-50473036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2007644	chr11:50473045-50473046	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571816710	chr11:50473078-50473079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531030382	chr11:50473114-50473115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140660576	chr11:50473149-50473150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs567468409	chr11:50473156-50473157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536030508	chr11:50473157-50473158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs1522925	chr11:50473174-50473175	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149312467	chr11:50473187-50473188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538285618	chr11:50473188-50473189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7293969	chr11:50473237-50473238	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117384782	chr11:50473252-50473253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192043473	chr11:50473253-50473254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144554050	chr11:50473254-50473255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185616107	chr11:50473297-50473298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554342768	chr11:50473308-50473309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574206819	chr11:50473323-50473324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148446554	chr11:50473352-50473353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs560037772	chr11:50473385-50473386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528792019	chr11:50473399-50473400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559391981	chr11:50473408-50473409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568642426	chr11:50473435-50473436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2313678	chr11:50473443-50473444	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368644949	chr11:50473448-50473449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188894060	chr11:50473478-50473479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs192336807	chr11:50473509-50473510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs1608283	chr11:50473542-50473543	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566804322	chr11:50473561-50473562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs184467782	chr11:50473581-50473582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558388242	chr11:50473588-50473589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1608282	chr11:50473596-50473597	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188711437	chr11:50473600-50473601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181146206	chr11:50473603-50473604	ZNF genes & repeats	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50472800-50489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:50473800-50477200	ZNF genes & repeats	Liver	Liver
3	chr11:50474400-50484600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr11:50475000-50475400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:50475000-50475800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:50475200-50475400	ZNF genes & repeats	HepG2	liver
7	chr11:50476400-50480000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr11:50476600-50478000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:50476800-50478800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr11:50481600-50485600	ZNF genes & repeats	Liver	Liver
11	chr11:50483400-50489400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr11:50486000-50486800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr11:50487400-50492400	ZNF genes & repeats	Liver	Liver
14	chr11:50487400-50492600	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr11:50490400-50490800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr11:50492400-50492800	Active TSS	Aorta	Aorta
17	chr11:50493400-50494600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:50494200-50495800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:50496800-50497600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr11:50498800-50499800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr11:50499200-50503400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:50502600-50504600	ZNF genes & repeats	Liver	Liver
23	chr11:50510800-50517800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr11:50512200-50513800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr11:50513200-50516400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr11:50516200-50518200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:50517400-50518200	ZNF genes & repeats	Liver	Liver
28	chr11:50522000-50523000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr11:50522000-50526000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr11:50522000-50528400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr11:50522200-50522400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr11:50522200-50522600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr11:50522200-50522600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr11:50522200-50522600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:50522200-50522600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:50522200-50522600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:50522200-50522600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr11:50522200-50522600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
42	chr11:50522200-50522600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:50522200-50522600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:50522200-50522600	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr11:50522200-50522600	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr11:50522200-50522600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr11:50522200-50522600	ZNF genes & repeats	HUVEC	blood vessel
49	chr11:50522200-50522600	ZNF genes & repeats	K562	blood
50	chr11:50522200-50522600	ZNF genes & repeats	NH-A	brain

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