Variant report

Variant	nsv10190
Chromosome Location	chr2:132955797-133009990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:33958834..33966480-chr2:133009904..133018933,30	MCF-7	breast:
2	chr16:33961611..33967347-chr2:133008818..133014443,19	K562	blood:
3	chr2:133009402..133016367-chr21:9824030..9829043,35	MCF-7	breast:
4	chr2:132994674..132995196-chrX:58560687..58561212,3	MCF-7	breast:
5	chr1:91853077..91854647-chr2:133009089..133010727,2	K562	blood:
6	chr13:24087086..24087588-chr2:133003343..133003844,2	MCF-7	breast:
7	chr2:133002822..133003517-chr9:122570668..122571483,2	MCF-7	breast:
8	chr14:36364915..36365415-chr2:132994676..132995179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264063	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 5273 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:5273 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575028270	chr2:132959803-132959804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549118014	chr2:132959811-132959812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542303313	chr2:132959814-132959815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28687752	chr2:132959870-132959871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74487141	chr2:132959871-132959872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28505407	chr2:132959876-132959877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200786475	chr2:132959880-132959881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75403097	chr2:132959911-132959912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201003756	chr2:132959919-132959920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374454344	chr2:132959926-132959927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575675462	chr2:132959941-132959942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76065242	chr2:132959949-132959950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187968461	chr2:132959958-132959959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10432331	chr2:132959959-132959960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565212288	chr2:132959967-132959968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531698818	chr2:132959983-132959984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200317801	chr2:132959989-132959990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532300945	chr2:132959997-132959998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192597089	chr2:132960010-132960011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184250337	chr2:132960012-132960013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529740052	chr2:132960020-132960021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556458641	chr2:132960026-132960027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6430119	chr2:132960074-132960075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537086530	chr2:132960098-132960099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368216452	chr2:132960132-132960133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373136176	chr2:132960163-132960164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376259168	chr2:132960183-132960184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10432332	chr2:132960200-132960201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200105868	chr2:132960216-132960217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10432333	chr2:132960268-132960269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199964726	chr2:132960292-132960293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111685647	chr2:132960302-132960303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571171357	chr2:132960304-132960305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10432334	chr2:132960339-132960340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10432335	chr2:132960343-132960344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373498460	chr2:132960366-132960367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534999043	chr2:132960384-132960385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10432361	chr2:132960402-132960403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568623722	chr2:132960465-132960466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192703625	chr2:132960531-132960532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557524317	chr2:132960551-132960552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3908102	chr2:132960601-132960602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575627262	chr2:132960650-132960651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184906378	chr2:132960661-132960662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557856628	chr2:132960678-132960679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200813165	chr2:132960707-132960708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577073981	chr2:132960731-132960732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201800164	chr2:132960738-132960739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377573870	chr2:132960740-132960741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200324899	chr2:132960743-132960744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132959800-132967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:132967400-132968000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:132968400-132968600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:132969000-132969200	ZNF genes & repeats	Liver	Liver
5	chr2:132974400-132975400	ZNF genes & repeats	Fetal Brain Male	brain
6	chr2:132974400-132977800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:132974400-132977800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:132974600-132977800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr2:132975600-132977800	ZNF genes & repeats	Fetal Brain Male	brain
10	chr2:132975800-132976800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:132975800-132977800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr2:132975800-132977800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr2:132975800-132977800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr2:132976000-132977800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr2:132976000-132977800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr2:132976200-132977400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:132976200-132977800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr2:132976200-132977800	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr2:132976400-132976600	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr2:132976400-132976800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
21	chr2:132976400-132977200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:132976600-132976800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:132976600-132977600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:132976800-132996200	Weak transcription	NHEK	skin
25	chr2:132977200-132980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:132977400-132980600	Weak transcription	K562	blood
27	chr2:132977600-132977800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:132977600-132977800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:132977600-132977800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
30	chr2:132977600-132977800	ZNF genes & repeats	Colon Smooth Muscle	Colon
31	chr2:132977600-132977800	ZNF genes & repeats	Fetal Heart	heart
32	chr2:132977600-132977800	ZNF genes & repeats	HUVEC	blood vessel
33	chr2:132977600-132977800	ZNF genes & repeats	Osteobl	bone
34	chr2:132977800-132980200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:132977800-132980400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:132977800-132980400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:132977800-132980400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:132977800-132980400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:132977800-132980600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:132977800-132980600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:132977800-132980600	Weak transcription	Primary T cells from cord blood	blood
42	chr2:132977800-132980600	Weak transcription	Fetal Brain Male	brain
43	chr2:132977800-132980600	Weak transcription	Fetal Heart	heart
44	chr2:132977800-132980600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:132977800-132980600	Weak transcription	HUVEC	blood vessel
46	chr2:132977800-132980600	Weak transcription	Osteobl	bone
47	chr2:132980400-132981400	ZNF genes & repeats	Liver	Liver
48	chr2:132980400-132984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:132980400-132985400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr2:132980400-132985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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