Variant report

Variant	nsv963183
Chromosome Location	chr2:168412509-168414582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
2	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
3	chr2:168412011..168414014-chr2:168467499..168469834,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532787521	chr2:168412541-168412542	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549341963	chr2:168412550-168412551	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552265521	chr2:168412660-168412661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188963838	chr2:168412674-168412675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs58986590	chr2:168412754-168412755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs559799785	chr2:168412755-168412756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528744251	chr2:168412773-168412774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs548593579	chr2:168412777-168412778	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs1227131	chr2:168412798-168412799	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538333943	chr2:168412836-168412837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550298783	chr2:168412857-168412858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570175695	chr2:168412903-168412904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576103460	chr2:168412915-168412916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539267684	chr2:168412950-168412951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140836982	chr2:168412966-168412967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs61500880	chr2:168412971-168412972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553083693	chr2:168412994-168412995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566661638	chr2:168413019-168413020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556881902	chr2:168413023-168413024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75790545	chr2:168413063-168413064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555370039	chr2:168413072-168413073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs574804399	chr2:168413075-168413076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140344571	chr2:168413109-168413110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370770724	chr2:168413124-168413125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577365479	chr2:168413163-168413164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546429742	chr2:168413168-168413169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559938830	chr2:168413183-168413184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573355323	chr2:168413184-168413185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570272092	chr2:168413192-168413193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577236958	chr2:168413216-168413217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562232564	chr2:168413224-168413225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs79852433	chr2:168413235-168413236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs1236837	chr2:168413249-168413250	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs563839681	chr2:168413251-168413252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532820387	chr2:168413264-168413265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147760328	chr2:168413278-168413279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566704537	chr2:168413293-168413294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535271051	chr2:168413320-168413321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574836021	chr2:168413351-168413352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549292826	chr2:168413370-168413371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569139412	chr2:168413414-168413415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528490700	chr2:168413500-168413501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs16853754	chr2:168413528-168413529	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557353120	chr2:168413592-168413593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577302167	chr2:168413625-168413626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199665337	chr2:168413654-168413655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201603986	chr2:168413656-168413657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191867522	chr2:168413680-168413681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573420320	chr2:168413684-168413685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374670658	chr2:168413720-168413721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168379400-168414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:168400200-168416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:168401400-168414000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:168403600-168414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:168403800-168414200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:168407400-168413200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:168408200-168414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:168408400-168413000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:168408400-168414000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:168411600-168415800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr2:168412000-168412600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:168412200-168415400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:168412400-168415200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr2:168413200-168415200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr2:168413400-168414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:168414000-168414400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:168414000-168414600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr2:168414000-168415000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr2:168414000-168415000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:168414000-168415200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr2:168414000-168415200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr2:168414000-168415200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:168414000-168415600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr2:168414000-168415800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:168414200-168414600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:168414200-168414800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr2:168414200-168415200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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