Variant report

Variant	rs57867847
Chromosome Location	chr8:67992934-67992935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:67992880-67993279	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
CSPP1	TF binding region
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10504399	0.85[EUR][1000 genomes]
rs11557200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986982	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990461	0.85[AMR][1000 genomes]
rs11992605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997404	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919053	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16933138	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933160	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16933162	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933170	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933173	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933182	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16933190	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs16933204	0.85[EUR][1000 genomes]
rs16933214	0.85[EUR][1000 genomes]
rs2168542	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290585	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2305672	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305673	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28547325	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3779995	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3780131	0.90[EUR][1000 genomes]
rs55662680	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55737416	0.90[EUR][1000 genomes]
rs55745066	0.95[EUR][1000 genomes]
rs55865037	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983978	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs55986624	0.85[EUR][1000 genomes]
rs56101466	0.90[EUR][1000 genomes]
rs56858183	0.85[EUR][1000 genomes]
rs57101332	0.90[EUR][1000 genomes]
rs58448590	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715460	0.85[EUR][1000 genomes]
rs59335949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59634730	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59870074	0.81[EUR][1000 genomes]
rs60324950	0.90[EUR][1000 genomes]
rs60666237	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60894518	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085456	0.85[AMR][1000 genomes]
rs61193782	0.90[EUR][1000 genomes]
rs6472289	0.85[AMR][1000 genomes]
rs6982699	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6984447	0.85[AMR][1000 genomes]
rs6984568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984650	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990298	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	0.90[EUR][1000 genomes]
rs73691182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691185	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691186	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693124	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73693135	0.84[EUR][1000 genomes]
rs73693152	0.90[EUR][1000 genomes]
rs73693153	0.90[EUR][1000 genomes]
rs73693631	0.85[AMR][1000 genomes]
rs73693632	0.85[AMR][1000 genomes]
rs7461383	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812425	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812510	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7815142	0.85[AMR][1000 genomes]
rs7815863	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7816827	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7819894	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819895	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7820403	0.85[AMR][1000 genomes]
rs7822754	0.85[EUR][1000 genomes]
rs7824775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833373	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834516	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7841884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842770	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7846677	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv890975	chr8:67983796-68032058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611458	chr8:67986890-68016482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv438063	chr8:67990001-67993426	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

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	chr8:67978200-68006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:67978200-68012600	Weak transcription	HUVEC	blood vessel
12	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
13	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:67978600-67998000	Weak transcription	NHEK	skin
16	chr8:67978600-68007000	Weak transcription	Brain Substantia Nigra	brain
17	chr8:67978600-68008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
19	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
20	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:67979400-68013200	Weak transcription	Pancreas	Pancrea
22	chr8:67984200-68009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:67986200-67993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:67986400-67993600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:67986600-67993200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:67986600-67993600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:67986600-67995200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:67986800-67993400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr8:67987200-67993200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr8:67987200-67993200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr8:67987200-67993200	Strong transcription	Placenta	Placenta
33	chr8:67987200-67993200	Strong transcription	Hela-S3	cervix
34	chr8:67987200-67993400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:67987200-67993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:67987200-67993400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:67987200-67993600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:67987200-67993600	Strong transcription	Liver	Liver
39	chr8:67987200-67994000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:67987200-67994200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:67987400-67993200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:67987400-67993400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:67987400-67993600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:67987400-67993800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:67987600-67993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:67988000-68004800	Weak transcription	Thymus	Thymus
47	chr8:67988200-67993000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:67988200-67993200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr8:67988200-68007000	Weak transcription	Fetal Brain Male	brain
50	chr8:67988200-68007000	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links