Variant report

Variant	nsv438063
Chromosome Location	chr8:67990001-67993426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr8:67991769-67991800	MCF10A-Er-Src	breast:	n/a	n/a
2	IRF1	chr8:67993017-67993078	K562	blood:	n/a	n/a
3	MAX	chr8:67993206-67993331	NB4	blood:	n/a	chr8:67993265-67993275 chr8:67993236-67993246
4	MAX	chr8:67993123-67993323	H1-hESC	embryonic stem cell:	n/a	chr8:67993265-67993275 chr8:67993236-67993246
5	POLR2A	chr8:67990343-67990437	K562	blood:	n/a	n/a
6	POLR2A	chr8:67992880-67993279	K562	blood:	n/a	n/a
7	POLR2A	chr8:67992070-67992197	ProgFib	skin:	n/a	n/a
8	POLR2A	chr8:67990970-67990975	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:67992970-67993484	A549	lung:	n/a	n/a
10	POLR2A	chr8:67990800-67990905	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:67990906-67990944	MCF-7	breast:	n/a	n/a
12	USF1	chr8:67993146-67993354	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr8:67993090-67993404	K562	blood:	n/a	n/a
14	USF1	chr8:67993106-67993331	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF2	chr8:67993185-67993394	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67981900..67985386-chr8:67987036..67990372,4	K562	blood:
2	chr8:67974200..67976487-chr8:67991987..67993603,2	K562	blood:
3	chr8:67981584..67984987-chr8:67987255..67990503,3	MCF-7	breast:
4	chr8:67983356..67985019-chr8:67992324..67994930,2	MCF-7	breast:
5	chr8:67990308..67993966-chr8:67998315..68001185,4	K562	blood:
6	chr8:67977046..67978803-chr8:67992749..67996349,3	K562	blood:
7	chr8:67981623..67983543-chr8:67991584..67993705,2	K562	blood:

No data

Variant related genes	Relation type
CSPP1	TF binding region
ENSG00000104218	chromatin interactions
ENSG00000121022	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7009678	chr8:67990001-67990002	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544528786	chr8:67990023-67990024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562912962	chr8:67990040-67990041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182576788	chr8:67990054-67990055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56352950	chr8:67990056-67990057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368939506	chr8:67990069-67990070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530425618	chr8:67990135-67990136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567290696	chr8:67990199-67990200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536124909	chr8:67990211-67990212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556445914	chr8:67990277-67990278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186847054	chr8:67990286-67990287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111987617	chr8:67990299-67990300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36063347	chr8:67990303-67990304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189714715	chr8:67990335-67990336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572205939	chr8:67990341-67990342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541160992	chr8:67990342-67990343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73693108	chr8:67990364-67990365	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141757113	chr8:67990367-67990368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113720891	chr8:67990368-67990369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564015962	chr8:67990440-67990441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566551813	chr8:67990448-67990449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117562230	chr8:67990458-67990459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546454693	chr8:67990475-67990476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370993306	chr8:67990493-67990494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182182508	chr8:67990498-67990499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538363900	chr8:67990506-67990507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558499021	chr8:67990520-67990521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547532999	chr8:67990530-67990531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74516171	chr8:67990582-67990583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80156517	chr8:67990594-67990595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536250897	chr8:67990621-67990622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549767127	chr8:67990683-67990684	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76026137	chr8:67990694-67990695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117703431	chr8:67990731-67990732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558313833	chr8:67990736-67990737	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571924875	chr8:67990757-67990758	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534765250	chr8:67990816-67990817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555048736	chr8:67990829-67990830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574699991	chr8:67990838-67990839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543788568	chr8:67990839-67990840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189205732	chr8:67990847-67990848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79494338	chr8:67990901-67990902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146229757	chr8:67990922-67990923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559954638	chr8:67990927-67990928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529366104	chr8:67990931-67990932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528720470	chr8:67991057-67991058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569227088	chr8:67991058-67991059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547133281	chr8:67991077-67991078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561047883	chr8:67991194-67991195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139226973	chr8:67991198-67991199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD
Glioblastoma multiforme	19115005	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977600-67998200	Weak transcription	Gastric	stomach
2	chr8:67977800-68009200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:67977800-68010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:67977800-68013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:67978000-67995400	Weak transcription	Colonic Mucosa	Colon
8	chr8:67978000-67996800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:67978000-68012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:67978200-67990600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:67978200-67992000	Weak transcription	Aorta	Aorta
12	chr8:67978200-67992600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:67978200-68006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:67978200-68012600	Weak transcription	HUVEC	blood vessel
15	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
16	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:67978600-67990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:67978600-67992200	Weak transcription	Osteobl	bone
20	chr8:67978600-67998000	Weak transcription	NHEK	skin
21	chr8:67978600-68007000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:67978600-68008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
24	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
25	chr8:67978800-67990600	Weak transcription	Fetal Thymus	thymus
26	chr8:67978800-67992600	Weak transcription	HSMMtube	muscle
27	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:67979400-68013200	Weak transcription	Pancreas	Pancrea
29	chr8:67981200-67990800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:67981600-67990400	Weak transcription	NHLF	lung
31	chr8:67984200-68009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:67986200-67993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:67986400-67993600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:67986600-67992200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:67986600-67993200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:67986600-67993600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:67986600-67995200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:67986800-67993400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr8:67987000-67990600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:67987200-67993200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:67987200-67993200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:67987200-67993200	Strong transcription	Placenta	Placenta
44	chr8:67987200-67993200	Strong transcription	Hela-S3	cervix
45	chr8:67987200-67993400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:67987200-67993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:67987200-67993400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:67987200-67993600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:67987200-67993600	Strong transcription	Liver	Liver
50	chr8:67987200-67994000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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