Variant report

Variant	nsv1047158
Chromosome Location	chr11:50382437-51337246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2720)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2720 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

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	chr11:50728352-50728528	K562	blood:	n/a	n/a
5	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
6	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
7	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
8	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
9	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
10	ATF1	chr11:50409411-50409611	K562	blood:	n/a	n/a
11	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
12	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
13	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
14	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
15	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
16	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
17	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
18	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
19	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
20	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
21	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
22	BACH1	chr11:50780465-50780837	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	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
27	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
28	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
29	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
30	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
31	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
32	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
33	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
34	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
35	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
36	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
37	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
38	BATF	chr11:50676256-50676541	GM12878	blood:	n/a	n/a
39	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
40	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
41	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
42	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
43	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
44	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
45	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
46	BATF	chr11:50685636-50685821	GM12878	blood:	n/a	n/a
47	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
48	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
49	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
50	BATF	chr11:50756315-50756627	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: 36504 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:36504 , 50 per page) page: 1 2 3 4 5 6 7 ... 731

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182786328	chr11:50384638-50384639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547946236	chr11:50384645-50384646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567860761	chr11:50384646-50384647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs76772842	chr11:50384648-50384649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116674673	chr11:50384689-50384690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573192107	chr11:50384695-50384696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538682303	chr11:50384698-50384699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533478002	chr11:50384703-50384704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139939752	chr11:50384706-50384707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187822408	chr11:50384717-50384718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs193022656	chr11:50384723-50384724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570299567	chr11:50384755-50384756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141883489	chr11:50384791-50384792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574577304	chr11:50384792-50384793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534472997	chr11:50384806-50384807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs61892020	chr11:50384815-50384816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs61892021	chr11:50384819-50384820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs61892022	chr11:50384822-50384823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560474992	chr11:50384823-50384824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186293663	chr11:50384829-50384830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs548155296	chr11:50384839-50384840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs139689642	chr11:50384841-50384842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs191026981	chr11:50384847-50384848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149755689	chr11:50384849-50384850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs61892023	chr11:50384859-50384860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs61892024	chr11:50384871-50384872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs386753496	chr11:50384894-50384895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370262107	chr11:50384900-50384901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543204	chr11:50384905-50384906	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs78966959	chr11:50384924-50384925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs692500	chr11:50384932-50384933	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144083882	chr11:50384933-50384934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75682230	chr11:50384943-50384944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543089	chr11:50384944-50384945	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78067643	chr11:50384947-50384948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79828018	chr11:50384948-50384949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74468599	chr11:50384955-50384956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75653988	chr11:50384958-50384959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536490214	chr11:50384971-50384972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546775870	chr11:50384974-50384975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs77299882	chr11:50384975-50384976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78051770	chr11:50384976-50384977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79959829	chr11:50384977-50384978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74448947	chr11:50384987-50384988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76244064	chr11:50384995-50384996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566852301	chr11:50384998-50384999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79591493	chr11:50385003-50385004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10901937	chr11:50385005-50385006	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78592469	chr11:50385006-50385007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184496881	chr11:50385009-50385010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	17122850	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50384600-50385800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:50385000-50395000	ZNF genes & repeats	Liver	Liver
3	chr11:50386400-50387000	Active TSS	Right Atrium	heart
4	chr11:50386600-50394400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:50387200-50393600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr11:50388000-50391000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr11:50388000-50392600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr11:50388800-50390400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr11:50391600-50393600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:50393600-50398600	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:50394400-50398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:50400200-50400800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr11:50406200-50417200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:50406600-50411800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:50408200-50417200	ZNF genes & repeats	Liver	Liver
16	chr11:50409800-50410400	Active TSS	Aorta	Aorta
17	chr11:50409800-50412600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:50410200-50417400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr11:50410200-50417800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr11:50413200-50413800	Active TSS	Aorta	Aorta
21	chr11:50413200-50414800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:50416600-50417200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:50418800-50424200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr11:50419600-50423400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr11:50419600-50431000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:50420000-50423600	ZNF genes & repeats	Liver	Liver
27	chr11:50420200-50421200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:50423000-50426000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr11:50423600-50425400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:50426000-50427000	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr11:50428000-50428800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr11:50435400-50442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:50436000-50438200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr11:50437400-50438000	ZNF genes & repeats	HepG2	liver
35	chr11:50437600-50438000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr11:50437600-50438000	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr11:50437600-50438000	ZNF genes & repeats	HUVEC	blood vessel
38	chr11:50437600-50438200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:50437600-50444000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr11:50437800-50438000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr11:50437800-50438000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr11:50437800-50438000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:50437800-50438000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
49	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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