Variant report

Variant	nsv961872
Chromosome Location	chr2:114041837-114061641
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:4)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114033208..114035776-chr2:114039656..114042402,2	K562	blood:
2	chr2:114035943..114037997-chr2:114049469..114051321,2	K562	blood:
3	chr2:114041343..114041852-chr8:123235626..123236502,2	MCF-7	breast:
4	chr2:114034404..114036046-chr2:114042741..114044743,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD4-6	chr2:114052336-114052823	NONHSAT073776
2	lnc-PSD4-6	chr2:114052628-114052956	NONHSAT073775
3	lnc-PSD4-6	chr2:114051662-114051789	NONHSAT073776
4	lnc-PSD4-6	chr2:114052029-114052431	NONHSAT073775
5	lnc-PSD4-6	chr2:114052029-114052233	l_1929_NR_026821
6	lnc-PSD4-6	chr2:114051429-114051789	l_1929_NR_026821
7	lnc-PSD4-6	chr2:114052029-114052233	NONHSAT073776
8	lnc-PSD4-6	chr2:114052336-114052898	l_1929_NR_026821
9	lnc-PSD4-6	chr2:114051429-114051789	NONHSAT073775

No data

Variant related genes	Relation type
ENSG00000125618	chromatin interactions

Extended variants
information (count: 763 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182832950	chr2:114041837-114041838	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568386051	chr2:114041850-114041851	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558585109	chr2:114041894-114041895	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73955198	chr2:114041895-114041896	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576955548	chr2:114041953-114041954	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539080779	chr2:114041964-114041965	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17626434	chr2:114041976-114041977	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs145755515	chr2:114041980-114041981	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187255796	chr2:114041995-114041996	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73955199	chr2:114042023-114042024	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561695640	chr2:114042040-114042041	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200908398	chr2:114042048-114042049	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575146279	chr2:114042123-114042124	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372082870	chr2:114042136-114042137	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544258057	chr2:114042163-114042164	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192910621	chr2:114042166-114042167	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185525477	chr2:114042167-114042168	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1823096	chr2:114042188-114042189	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560094092	chr2:114042245-114042246	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190552261	chr2:114042339-114042340	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549024888	chr2:114042403-114042404	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192709157	chr2:114042412-114042413	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11679928	chr2:114042456-114042457	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs550610266	chr2:114042479-114042480	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530253470	chr2:114042599-114042600	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143643273	chr2:114042683-114042684	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11889663	chr2:114042706-114042707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs573377610	chr2:114042791-114042792	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536113537	chr2:114042832-114042833	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183899075	chr2:114042833-114042834	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188623298	chr2:114042892-114042893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4849191	chr2:114042927-114042928	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs4848324	chr2:114042966-114042967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs4849192	chr2:114043016-114043017	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs540351036	chr2:114043017-114043018	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4848325	chr2:114043021-114043022	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs4848326	chr2:114043050-114043051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs181152473	chr2:114043065-114043066	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556952875	chr2:114043088-114043089	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562634187	chr2:114043092-114043093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531537263	chr2:114043132-114043133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138117673	chr2:114043208-114043209	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112728227	chr2:114043238-114043239	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10580895	chr2:114043240-114043241	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs367946663	chr2:114043242-114043243	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570518470	chr2:114043263-114043264	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533227337	chr2:114043268-114043269	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4848327	chr2:114043291-114043292	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs566990696	chr2:114043335-114043336	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4848328	chr2:114043360-114043361	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114036600-114043800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:114037400-114043600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114037600-114042200	Enhancers	Pancreas	Pancrea
4	chr2:114037600-114043800	Enhancers	HMEC	breast
5	chr2:114038200-114043800	Enhancers	Fetal Intestine Large	intestine
6	chr2:114038400-114043600	Enhancers	Fetal Intestine Small	intestine
7	chr2:114038600-114043600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:114038600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:114039000-114043800	Enhancers	HSMM	muscle
10	chr2:114039400-114042000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:114039400-114043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114039400-114043200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114039400-114043200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:114039600-114042200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:114039600-114042400	Enhancers	Adipose Nuclei	Adipose
16	chr2:114039600-114042600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:114039600-114043400	Enhancers	Osteobl	bone
18	chr2:114039600-114043600	Enhancers	HSMMtube	muscle
19	chr2:114039600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:114039800-114042200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:114039800-114042200	Enhancers	Stomach Mucosa	stomach
22	chr2:114039800-114043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:114040000-114042200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:114040000-114042600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:114040200-114042600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:114040400-114042000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:114040400-114042000	Enhancers	Placenta	Placenta
28	chr2:114040400-114042200	Enhancers	Fetal Heart	heart
29	chr2:114040400-114042400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:114040400-114042400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:114040400-114042400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:114040400-114042800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:114040600-114042200	Enhancers	Left Ventricle	heart
34	chr2:114040600-114043600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:114040600-114043600	Enhancers	Colon Smooth Muscle	Colon
36	chr2:114040600-114043600	Enhancers	NHDF-Ad	bronchial
37	chr2:114040600-114047000	Enhancers	Liver	Liver
38	chr2:114040600-114047800	Weak transcription	Gastric	stomach
39	chr2:114040800-114042200	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:114040800-114042400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:114040800-114042400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:114040800-114042400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:114040800-114042400	Enhancers	Hela-S3	cervix
44	chr2:114040800-114043400	Enhancers	NHLF	lung
45	chr2:114041000-114042600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr2:114041000-114043600	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:114041200-114042400	Enhancers	Brain Substantia Nigra	brain
48	chr2:114041200-114042800	Enhancers	Fetal Stomach	stomach
49	chr2:114041200-114043600	Enhancers	NHEK	skin
50	chr2:114041400-114042200	Enhancers	Brain Angular Gyrus	brain

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