Variant report

Variant	nsv897543
Chromosome Location	chr11:50474459-51221009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Extended variants
information (count: 26567 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:26567 , 50 per page) page: 1 2 3 4 5 6 7 ... 532

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1589629	chr11:50474459-50474460	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147082175	chr11:50474487-50474488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546274388	chr11:50474488-50474489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192266649	chr11:50474509-50474510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs138422073	chr11:50474530-50474531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114201330	chr11:50474575-50474576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562355420	chr11:50474625-50474626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531502254	chr11:50474637-50474638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs541782981	chr11:50474643-50474644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561997042	chr11:50474644-50474645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142432585	chr11:50474652-50474653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547404620	chr11:50474658-50474659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570605378	chr11:50474660-50474661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181029931	chr11:50474678-50474679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2313677	chr11:50474686-50474687	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569366260	chr11:50474732-50474733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538404953	chr11:50474764-50474765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544229811	chr11:50474765-50474766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554998333	chr11:50474767-50474768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551468204	chr11:50474771-50474772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568728581	chr11:50474778-50474779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533985595	chr11:50474799-50474800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185245953	chr11:50474811-50474812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561217053	chr11:50474826-50474827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576789470	chr11:50474840-50474841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs564446283	chr11:50474843-50474844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs529910798	chr11:50474901-50474902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs546793353	chr11:50474906-50474907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556213645	chr11:50474914-50474915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566282342	chr11:50474915-50474916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576187647	chr11:50474916-50474917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541990554	chr11:50474929-50474930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561872117	chr11:50474963-50474964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200869412	chr11:50474972-50474973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs527578615	chr11:50475004-50475005	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113650854	chr11:50475017-50475018	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541278124	chr11:50475027-50475028	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532085032	chr11:50475048-50475049	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531503536	chr11:50475049-50475050	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146367953	chr11:50475060-50475061	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551845619	chr11:50475063-50475064	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569710178	chr11:50475089-50475090	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375672882	chr11:50475090-50475091	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78806651	chr11:50475115-50475116	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148289210	chr11:50475159-50475160	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141365278	chr11:50475160-50475161	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs150790690	chr11:50475176-50475177	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534231122	chr11:50475188-50475189	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190350932	chr11:50475189-50475190	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs368361036	chr11:50475190-50475191	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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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