Variant report

Variant	nsv1037622
Chromosome Location	chr11:50458746-51377342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2657)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2657 , 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	chr11:50771363-50771551	K562	blood:	n/a	n/a
4	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
5	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
6	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
7	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
8	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
9	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
10	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
11	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
12	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
13	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
14	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
16	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
17	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
18	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
19	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
20	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
21	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
22	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
23	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
24	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
25	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
26	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
27	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
28	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
29	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
30	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
31	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
32	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
33	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
34	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
35	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
36	BATF	chr11:50676256-50676541	GM12878	blood:	n/a	n/a
37	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
38	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
39	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
40	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
41	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
42	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
43	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
44	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
45	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
46	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
47	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
48	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
49	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
50	BATF	chr11:50687048-50687278	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: 33819 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33819 , 50 per page) page: 1 2 3 4 5 6 7 ... 677

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569400466	chr11:50459821-50459822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567510741	chr11:50459832-50459833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs151124464	chr11:50459874-50459875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536449769	chr11:50459879-50459880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7293940	chr11:50459908-50459909	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540375317	chr11:50459914-50459915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553801922	chr11:50459918-50459919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576693555	chr11:50459923-50459924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs142624357	chr11:50459945-50459946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112913568	chr11:50459969-50459970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs199792298	chr11:50459976-50459977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200866650	chr11:50459997-50459998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7293943	chr11:50460025-50460026	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190155350	chr11:50460030-50460031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561783887	chr11:50460035-50460036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192050311	chr11:50460036-50460037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539910553	chr11:50460046-50460047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114262647	chr11:50460048-50460049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs67647926	chr11:50460052-50460053	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112624753	chr11:50460063-50460064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs1608261	chr11:50460079-50460080	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1608260	chr11:50460084-50460085	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35506537	chr11:50460107-50460108	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184976720	chr11:50460109-50460110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs189314755	chr11:50460114-50460115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372978036	chr11:50460131-50460132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7294198	chr11:50460145-50460146	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553918679	chr11:50460147-50460148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs141650235	chr11:50460198-50460199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115883428	chr11:50460233-50460234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs180898400	chr11:50460241-50460242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575644120	chr11:50460258-50460259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200679605	chr11:50460270-50460271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs61893259	chr11:50460287-50460288	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561654272	chr11:50460292-50460293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552594224	chr11:50460304-50460305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186082991	chr11:50460336-50460337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs189764732	chr11:50460343-50460344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11533319	chr11:50460352-50460353	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552913706	chr11:50460354-50460355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs563128192	chr11:50460355-50460356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531629918	chr11:50460361-50460362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548527448	chr11:50460362-50460363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374611270	chr11:50460371-50460372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181193504	chr11:50460374-50460375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143412444	chr11:50460389-50460390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77333021	chr11:50460390-50460391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs534279173	chr11:50460396-50460397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547322472	chr11:50460398-50460399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186227157	chr11:50460407-50460408	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:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50459800-50460800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:50464200-50466200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr11:50464600-50465000	ZNF genes & repeats	Liver	Liver
4	chr11:50472800-50489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:50473800-50477200	ZNF genes & repeats	Liver	Liver
6	chr11:50474400-50484600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr11:50475000-50475400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:50475000-50475800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:50475200-50475400	ZNF genes & repeats	HepG2	liver
10	chr11:50476400-50480000	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:50476600-50478000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr11:50476800-50478800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr11:50481600-50485600	ZNF genes & repeats	Liver	Liver
14	chr11:50483400-50489400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:50486000-50486800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:50487400-50492400	ZNF genes & repeats	Liver	Liver
17	chr11:50487400-50492600	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr11:50490400-50490800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr11:50492400-50492800	Active TSS	Aorta	Aorta
20	chr11:50493400-50494600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr11:50494200-50495800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:50496800-50497600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr11:50498800-50499800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr11:50499200-50503400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:50502600-50504600	ZNF genes & repeats	Liver	Liver
26	chr11:50510800-50517800	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr11:50512200-50513800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr11:50513200-50516400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr11:50516200-50518200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:50517400-50518200	ZNF genes & repeats	Liver	Liver
31	chr11:50522000-50523000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr11:50522000-50526000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr11:50522000-50528400	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr11:50522200-50522400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:50522200-50522600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr11:50522200-50522600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr11:50522200-50522600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:50522200-50522600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:50522200-50522600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:50522200-50522600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr11:50522200-50522600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
45	chr11:50522200-50522600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:50522200-50522600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:50522200-50522600	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr11:50522200-50522600	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr11:50522200-50522600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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