Variant report

Variant	nsv823144
Chromosome Location	chr5:94172237-94212534
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:94202239..94204234-chr5:94204961..94206790,2	K562	blood:
2	chr5:94205159..94207112-chr5:94208983..94211350,2	K562	blood:
3	chr5:94190382..94191968-chr5:94194901..94196604,2	K562	blood:
4	chr5:93860369..93860877-chr5:94185891..94186598,2	K562	blood:
5	chr5:94177586..94179304-chr5:94195770..94198310,2	K562	blood:
6	chr5:94141467..94144189-chr5:94211080..94213716,2	K562	blood:
7	chr5:94190382..94191968-chr5:94194901..94196604,2	K562	blood:
8	chr5:94177586..94179304-chr5:94195770..94198310,2	K562	blood:
9	chr5:94201284..94203096-chr5:94204647..94207071,2	K562	blood:
10	chr5:94167988..94169723-chr5:94173484..94175826,2	K562	blood:
11	chr5:94201284..94203096-chr5:94204647..94207071,2	K562	blood:
12	chr5:94166198..94167055-chr5:94186086..94186919,2	MCF-7	breast:
13	chr5:94202239..94204234-chr5:94204961..94206790,2	K562	blood:
14	chr5:94205159..94207112-chr5:94208983..94211350,2	K562	blood:

No data

Extended variants
information (count: 1333 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1333 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12653136	chr5:94172291-94172292	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142542019	chr5:94172302-94172303	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75655659	chr5:94172332-94172333	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539286386	chr5:94172353-94172354	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181680954	chr5:94172373-94172374	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186021158	chr5:94172464-94172465	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146011300	chr5:94172552-94172553	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77053199	chr5:94172608-94172609	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370652959	chr5:94172625-94172626	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199508676	chr5:94172651-94172652	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534378323	chr5:94172657-94172658	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574775107	chr5:94172695-94172696	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543889356	chr5:94172766-94172767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563485366	chr5:94172802-94172803	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576925383	chr5:94172815-94172816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545551646	chr5:94172842-94172843	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559136051	chr5:94172874-94172875	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549092704	chr5:94172927-94172928	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536992627	chr5:94173008-94173009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548217957	chr5:94173017-94173018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556827454	chr5:94173056-94173057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114394814	chr5:94173077-94173078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149378455	chr5:94173099-94173100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570516369	chr5:94173178-94173179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144658158	chr5:94173200-94173201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77917305	chr5:94173222-94173223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148512818	chr5:94173276-94173277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142960787	chr5:94173381-94173382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113148154	chr5:94173453-94173454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542167557	chr5:94173455-94173456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147739736	chr5:94173460-94173461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141058002	chr5:94173465-94173466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536996079	chr5:94173466-94173467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556943975	chr5:94173495-94173496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556244062	chr5:94173514-94173515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545917948	chr5:94173530-94173531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559102741	chr5:94173545-94173546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7349828	chr5:94173609-94173610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147930787	chr5:94173728-94173729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572991706	chr5:94173829-94173830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs40625	chr5:94173902-94173903	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs467992	chr5:94173941-94173942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188871568	chr5:94173991-94173992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561882101	chr5:94174000-94174001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544946320	chr5:94174008-94174009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572861718	chr5:94174096-94174097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77710699	chr5:94174144-94174145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62365731	chr5:94174152-94174153	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs255367	chr5:94174183-94174184	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs140755187	chr5:94174216-94174217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94130400-94192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:94162400-94184800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:94163400-94182600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:94163800-94209800	Weak transcription	Dnd41	blood
5	chr5:94164000-94185800	Weak transcription	Primary T cells from cord blood	blood
6	chr5:94165000-94240800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:94165200-94183400	Weak transcription	Lung	lung
8	chr5:94165400-94185600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:94165600-94182200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:94165800-94172800	Weak transcription	HUVEC	blood vessel
11	chr5:94165800-94182400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:94165800-94183400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:94165800-94206200	Weak transcription	Adipose Nuclei	Adipose
14	chr5:94168800-94176800	Weak transcription	Thymus	Thymus
15	chr5:94169200-94185800	Weak transcription	Fetal Brain Female	brain
16	chr5:94170200-94182600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:94170400-94173000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr5:94170400-94174600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:94170600-94173000	Genic enhancers	Fetal Thymus	thymus
20	chr5:94170600-94187400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:94170800-94185200	Weak transcription	Fetal Brain Male	brain
22	chr5:94171600-94185200	Weak transcription	Left Ventricle	heart
23	chr5:94172200-94173000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:94172400-94173200	Enhancers	Hela-S3	cervix
25	chr5:94172800-94174600	Strong transcription	HUVEC	blood vessel
26	chr5:94173000-94173200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:94173000-94173200	Weak transcription	Fetal Thymus	thymus
28	chr5:94173000-94189000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:94173200-94173400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:94173200-94178000	Enhancers	Fetal Thymus	thymus
31	chr5:94173400-94173800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:94173800-94179400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:94174600-94176000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:94174600-94179000	Weak transcription	HUVEC	blood vessel
35	chr5:94175600-94194600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:94175800-94176000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:94176000-94185200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:94176000-94186000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:94176600-94190000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:94176800-94177000	Enhancers	Thymus	Thymus
41	chr5:94177000-94177600	Weak transcription	Thymus	Thymus
42	chr5:94177600-94177800	Enhancers	Thymus	Thymus
43	chr5:94177800-94183200	Weak transcription	Thymus	Thymus
44	chr5:94178000-94179000	Weak transcription	Fetal Thymus	thymus
45	chr5:94179000-94179200	Strong transcription	HUVEC	blood vessel
46	chr5:94179000-94180000	Enhancers	Fetal Thymus	thymus
47	chr5:94179200-94182200	Weak transcription	HUVEC	blood vessel
48	chr5:94179400-94181800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:94179600-94179800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:94179800-94188200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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