Variant report

Variant	nsv962082
Chromosome Location	chr2:144718070-144728425
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:144711849..144715713-chr2:144717627..144720875,3	K562	blood:
2	chr2:144719835..144721689-chr2:144724393..144726863,3	K562	blood:
3	chr2:144719835..144721689-chr2:144724393..144726863,3	K562	blood:
4	chr2:144685234..144688030-chr2:144717125..144719002,2	K562	blood:
5	chr2:144716711..144718634-chr2:144721830..144723917,3	K562	blood:
6	chr2:144720023..144721689-chr2:144724897..144726863,2	K562	blood:
7	chr2:144714184..144715713-chr2:144719335..144720875,2	K562	blood:
8	chr2:144720023..144721689-chr2:144724897..144726863,2	K562	blood:
9	chr2:144716711..144718634-chr2:144721830..144723917,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-2	chr2:144721393-144721723	ENSG00000232377.1
2	lnc-ARHGAP15-2	chr2:144721393-144721722	NR_110237

No data

Extended variants
information (count: 289 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13402564	chr2:144718111-144718112	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192006614	chr2:144718135-144718136	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541324040	chr2:144718188-144718189	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553261428	chr2:144718208-144718209	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61180561	chr2:144718229-144718230	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545158252	chr2:144718284-144718285	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56123489	chr2:144718298-144718299	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77547334	chr2:144718310-144718311	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372557077	chr2:144718311-144718312	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560939598	chr2:144718314-144718315	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528431959	chr2:144718315-144718316	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568269159	chr2:144718327-144718328	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573818098	chr2:144718377-144718378	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78140904	chr2:144718378-144718379	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141746494	chr2:144718464-144718465	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150553643	chr2:144718487-144718488	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532613197	chr2:144718502-144718503	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546671156	chr2:144718530-144718531	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72852911	chr2:144718581-144718582	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139815725	chr2:144718603-144718604	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577956105	chr2:144718605-144718606	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184821637	chr2:144718606-144718607	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567279904	chr2:144718611-144718612	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189195709	chr2:144718649-144718650	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565321171	chr2:144718666-144718667	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553324574	chr2:144718729-144718730	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115605789	chr2:144718758-144718759	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149793288	chr2:144718777-144718778	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557094530	chr2:144718882-144718883	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146802134	chr2:144719008-144719009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564211951	chr2:144719020-144719021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543120237	chr2:144719150-144719151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375299718	chr2:144719275-144719276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573142904	chr2:144719324-144719325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13418252	chr2:144719362-144719363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180933009	chr2:144719418-144719419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572926341	chr2:144719460-144719461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540201957	chr2:144719497-144719498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561820915	chr2:144719527-144719528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565272458	chr2:144719578-144719579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532818863	chr2:144719665-144719666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13008270	chr2:144719795-144719796	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76724118	chr2:144719799-144719800	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13008770	chr2:144719802-144719803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563087685	chr2:144719804-144719805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529005952	chr2:144719825-144719826	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530194417	chr2:144719853-144719854	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549101199	chr2:144719864-144719865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13008320	chr2:144719872-144719873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184130464	chr2:144719876-144719877	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:144700800-144719600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:144704600-144728800	Weak transcription	Spleen	Spleen
4	chr2:144704800-144719200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:144704800-144730800	Weak transcription	Left Ventricle	heart
6	chr2:144713400-144719600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:144713600-144719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:144713600-144719800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:144713600-144721000	Weak transcription	Fetal Lung	lung
10	chr2:144713600-144723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:144713600-144780000	Weak transcription	HSMMtube	muscle
12	chr2:144713800-144719800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:144713800-144725200	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:144714800-144725000	Weak transcription	Psoas Muscle	Psoas
15	chr2:144715800-144720200	Weak transcription	Fetal Brain Male	brain
16	chr2:144717600-144718200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:144717800-144718200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:144717800-144718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:144717800-144718200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:144717800-144718200	Enhancers	NHEK	skin
21	chr2:144717800-144719000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:144717800-144720000	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:144718000-144718800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:144718000-144719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:144718200-144719400	Weak transcription	NHEK	skin
26	chr2:144718200-144732000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:144718800-144722200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:144719000-144727400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:144719200-144720200	Strong transcription	Primary B cells from cord blood	blood
30	chr2:144719400-144720000	Enhancers	NHEK	skin
31	chr2:144719400-144720400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:144719600-144719800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:144719600-144720200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:144719800-144720000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:144719800-144720000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:144719800-144720200	Enhancers	HUVEC	blood vessel
37	chr2:144720000-144723600	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:144720200-144720400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:144720200-144725400	Weak transcription	Primary B cells from cord blood	blood
40	chr2:144720400-144725800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:144721000-144724600	Enhancers	Fetal Lung	lung
42	chr2:144722200-144724800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:144722400-144722600	Enhancers	Fetal Stomach	stomach
44	chr2:144722600-144724000	Weak transcription	Fetal Stomach	stomach
45	chr2:144722800-144723800	Enhancers	Liver	Liver
46	chr2:144723000-144795600	Weak transcription	Primary T cells from cord blood	blood
47	chr2:144723400-144724000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:144723600-144723800	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:144723800-144727400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:144723800-144742000	Weak transcription	Fetal Muscle Leg	muscle

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