Variant report

Variant	nsv875233
Chromosome Location	chr2:142151405-142208793
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	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:
2	chr2:142176781..142180982-chr2:142186884..142191096,4	MCF-7	breast:
3	chr2:142189797..142191376-chr2:142887481..142889712,2	MCF-7	breast:
4	chr2:142162036..142164239-chr2:142169012..142170752,2	K562	blood:
5	chr2:142176781..142180982-chr2:142186884..142191096,4	MCF-7	breast:
6	chr2:142186559..142188286-chr2:142189244..142191803,2	MCF-7	breast:
7	chr2:142186559..142188286-chr2:142189244..142191803,2	MCF-7	breast:
8	chr2:142162036..142164239-chr2:142169012..142170752,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 1261 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11891708	chr2:142151405-142151406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183089708	chr2:142151412-142151413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79277864	chr2:142151433-142151434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188471437	chr2:142151440-142151441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575748913	chr2:142151448-142151449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538238508	chr2:142151501-142151502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192130187	chr2:142151543-142151544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578133652	chr2:142151604-142151605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540698245	chr2:142151626-142151627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183026727	chr2:142151640-142151641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573709881	chr2:142151650-142151651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542919837	chr2:142151676-142151677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141475658	chr2:142151715-142151716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187680836	chr2:142151731-142151732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550943426	chr2:142151746-142151747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145164217	chr2:142151762-142151763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6429870	chr2:142151819-142151820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149408996	chr2:142151844-142151845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6429871	chr2:142151846-142151847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372718126	chr2:142151873-142151874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143065625	chr2:142151876-142151877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569550739	chr2:142151881-142151882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556825473	chr2:142151901-142151902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16845984	chr2:142151906-142151907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs578051226	chr2:142151965-142151966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192642960	chr2:142151992-142151993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553937531	chr2:142152029-142152030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368010546	chr2:142152042-142152043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573823350	chr2:142152047-142152048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553694034	chr2:142152131-142152132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562474495	chr2:142152135-142152136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575944089	chr2:142152216-142152217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112209847	chr2:142152218-142152219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544874087	chr2:142152303-142152304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113633278	chr2:142152311-142152312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527252689	chr2:142152358-142152359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547509743	chr2:142152502-142152503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560817747	chr2:142152523-142152524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11887563	chr2:142152537-142152538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184309290	chr2:142152564-142152565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569439624	chr2:142152580-142152581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538561457	chr2:142152589-142152590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6718932	chr2:142152617-142152618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369105872	chr2:142152647-142152648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78946158	chr2:142152653-142152654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554291107	chr2:142152675-142152676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75220032	chr2:142152676-142152677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148228197	chr2:142152678-142152679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141141275	chr2:142152685-142152686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78208892	chr2:142152694-142152695	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
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	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142149800-142151600	Enhancers	NH-A	brain
2	chr2:142150800-142152200	Enhancers	Hela-S3	cervix
3	chr2:142151200-142151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:142151200-142152000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:142151800-142152000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:142152000-142152400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:142152400-142152600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:142152600-142153600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:142154200-142155200	Enhancers	Dnd41	blood
10	chr2:142157200-142157600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:142160400-142166000	Weak transcription	Pancreas	Pancrea
12	chr2:142161000-142161400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:142167400-142169600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:142174200-142176200	Enhancers	Dnd41	blood
15	chr2:142180000-142182200	Enhancers	Dnd41	blood
16	chr2:142194400-142194800	Enhancers	Brain Substantia Nigra	brain
17	chr2:142194800-142195600	Weak transcription	Brain Substantia Nigra	brain
18	chr2:142195600-142196400	Enhancers	Brain Hippocampus Middle	brain
19	chr2:142195600-142196400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:142195600-142196400	Enhancers	Brain Substantia Nigra	brain
21	chr2:142196400-142197600	Enhancers	NH-A	brain
22	chr2:142196400-142199200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:142196600-142205800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:142205000-142205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:142205200-142206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:142205400-142206400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:142205800-142206200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:142205800-142206400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:142205800-142206800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:142206000-142206400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:142206200-142206600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:142206400-142208200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:142206600-142207000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:142206600-142212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:142206800-142212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:142207000-142212200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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