Variant report

Variant	nsv963936
Chromosome Location	chr2:168347505-168352736
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	chr2:168350817..168353056-chr2:168354971..168356552,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XIRP2-2	chr2:168351651-168352135	NONHSAT075311

Extended variants
information (count: 205 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531952297	chr2:168347537-168347538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536008574	chr2:168347560-168347561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111636776	chr2:168347643-168347644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556050442	chr2:168347644-168347645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569887954	chr2:168347658-168347659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543702274	chr2:168347737-168347738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538554811	chr2:168347772-168347773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558171704	chr2:168347790-168347791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190588912	chr2:168347806-168347807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563348174	chr2:168347843-168347844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1112983	chr2:168347864-168347865	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574300858	chr2:168347877-168347878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150791822	chr2:168347884-168347885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563042696	chr2:168347934-168347935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34443422	chr2:168347991-168347992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531948133	chr2:168347993-168347994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71823765	chr2:168347994-168347995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75335557	chr2:168348010-168348011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532076728	chr2:168348042-168348043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112139299	chr2:168348060-168348061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529501425	chr2:168348063-168348064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527264799	chr2:168348076-168348077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112187761	chr2:168348091-168348092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552271970	chr2:168348139-168348140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112268446	chr2:168348156-168348157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529844601	chr2:168348163-168348164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148955554	chr2:168348186-168348187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145418715	chr2:168348193-168348194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538956730	chr2:168348194-168348195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558547701	chr2:168348214-168348215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571634299	chr2:168348240-168348241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147671779	chr2:168348255-168348256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182414535	chr2:168348257-168348258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574135842	chr2:168348277-168348278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543139402	chr2:168348381-168348382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540017562	chr2:168348401-168348402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567446642	chr2:168348402-168348403	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550377441	chr2:168348412-168348413	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556752405	chr2:168348413-168348414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576539342	chr2:168348465-168348466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545706154	chr2:168348467-168348468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77783649	chr2:168348547-168348548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142334980	chr2:168348559-168348560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540580998	chr2:168348615-168348616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146912012	chr2:168348620-168348621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529781731	chr2:168348624-168348625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549448530	chr2:168348644-168348645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563524597	chr2:168348658-168348659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185510437	chr2:168348667-168348668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148376125	chr2:168348676-168348677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168337000-168355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168337200-168348200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:168338200-168348200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:168338200-168366000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:168338400-168349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:168338400-168352400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:168341600-168352600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:168341600-168352800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:168341600-168365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:168342200-168352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:168343600-168347600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:168343600-168352400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:168346200-168358800	Weak transcription	Fetal Lung	lung
14	chr2:168346800-168349800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:168347000-168347800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:168347000-168348000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:168347200-168348400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:168347400-168354000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:168347600-168352600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:168347800-168352800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:168348200-168350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:168348400-168349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:168348800-168349800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:168349000-168349200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:168349800-168350600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:168349800-168352400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:168350600-168351000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:168351000-168351200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:168351200-168351600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:168351200-168351600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:168352400-168353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:168352400-168353400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:168352400-168353400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:168352600-168353000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:168352600-168353200	Enhancers	Cortex derived primary cultured neurospheres	brain

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