Variant report

Variant	nsv897535
Chromosome Location	chr11:50405139-51314773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2700)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2700 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

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	chr11:51250147-51250516	K562	blood:	n/a	n/a
4	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
5	ATF1	chr11:50409411-50409611	K562	blood:	n/a	n/a
6	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
7	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
8	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
9	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
10	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
11	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
12	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
13	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
14	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
15	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
16	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
17	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
18	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
19	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
21	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
22	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
23	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
24	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
25	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
26	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
27	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
28	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
29	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
30	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
31	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
32	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
33	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
34	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
35	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
36	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
37	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
38	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
39	BATF	chr11:50685636-50685821	GM12878	blood:	n/a	n/a
40	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
41	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
42	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
43	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
44	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
45	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
46	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
47	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
48	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
49	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
50	BATF	chr11:50761809-50762209	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: 34889 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:34889 , 50 per page) page: 1 2 3 4 5 6 7 ... 698

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190408189	chr11:50406216-50406217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183552118	chr11:50406233-50406234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536295191	chr11:50406234-50406235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559441980	chr11:50406248-50406249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs528633702	chr11:50406265-50406266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551575498	chr11:50406268-50406269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571502304	chr11:50406286-50406287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs537224023	chr11:50406300-50406301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550770390	chr11:50406307-50406308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567583654	chr11:50406321-50406322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188832041	chr11:50406322-50406323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs546617602	chr11:50406339-50406340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552977736	chr11:50406340-50406341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76464306	chr11:50406346-50406347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192117024	chr11:50406454-50406455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540559919	chr11:50406467-50406468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558345102	chr11:50406484-50406485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567180232	chr11:50406490-50406491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574966695	chr11:50406532-50406533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs543623782	chr11:50406542-50406543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563499001	chr11:50406570-50406571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573999484	chr11:50406571-50406572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs542949294	chr11:50406573-50406574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs377654534	chr11:50406576-50406577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs559739908	chr11:50406605-50406606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs80344157	chr11:50406616-50406617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs551881631	chr11:50406620-50406621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115033398	chr11:50406665-50406666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530993589	chr11:50406700-50406701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs61894060	chr11:50406712-50406713	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567463489	chr11:50406747-50406748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536588032	chr11:50406771-50406772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs116886029	chr11:50406791-50406792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs559168609	chr11:50406822-50406823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182577934	chr11:50406824-50406825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs55951321	chr11:50406825-50406826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186770760	chr11:50406830-50406831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs34971783	chr11:50406848-50406849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542464797	chr11:50406875-50406876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs537500675	chr11:50406876-50406877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs575768098	chr11:50406887-50406888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs369038646	chr11:50406891-50406892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs370526746	chr11:50406892-50406893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538002719	chr11:50406902-50406903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554652120	chr11:50406911-50406912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150592985	chr11:50406920-50406921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139988161	chr11:50406937-50406938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573457082	chr11:50406941-50406942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545090961	chr11:50406963-50406964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs565240282	chr11:50406980-50406981	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
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
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:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50406200-50417200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:50406600-50411800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:50408200-50417200	ZNF genes & repeats	Liver	Liver
4	chr11:50409800-50410400	Active TSS	Aorta	Aorta
5	chr11:50409800-50412600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:50410200-50417400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr11:50410200-50417800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr11:50413200-50413800	Active TSS	Aorta	Aorta
9	chr11:50413200-50414800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:50416600-50417200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:50418800-50424200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr11:50419600-50423400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr11:50419600-50431000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:50420000-50423600	ZNF genes & repeats	Liver	Liver
15	chr11:50420200-50421200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:50423000-50426000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr11:50423600-50425400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:50426000-50427000	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr11:50428000-50428800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr11:50435400-50442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:50436000-50438200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr11:50437400-50438000	ZNF genes & repeats	HepG2	liver
23	chr11:50437600-50438000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr11:50437600-50438000	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr11:50437600-50438000	ZNF genes & repeats	HUVEC	blood vessel
26	chr11:50437600-50438200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:50437600-50444000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr11:50437800-50438000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr11:50437800-50438000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
30	chr11:50437800-50438000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:50437800-50438000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr11:50437800-50438000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr11:50437800-50438000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:50437800-50438000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr11:50437800-50438000	ZNF genes & repeats	Brain Anterior Caudate	brain
45	chr11:50437800-50438000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
46	chr11:50437800-50438000	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr11:50437800-50438000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr11:50437800-50438000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr11:50437800-50438000	ZNF genes & repeats	Left Ventricle	heart
50	chr11:50437800-50438000	ZNF genes & repeats	Small Intestine	intestine

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