Variant report

Variant	rs6988808
Chromosome Location	chr8:54750508-54750509
allele	A/G
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:6)
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	chr8:54750380-54750566	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54748659..54752308-chr8:54753286..54756528,7	K562	blood:
2	chr8:54744420..54745965-chr8:54750144..54752140,2	K562	blood:
3	chr8:54749963..54753631-chr8:54753914..54756219,5	MCF-7	breast:
4	chr8:54743534..54745842-chr8:54749054..54751844,2	MCF-7	breast:
5	chr8:54749643..54751266-chr8:54916287..54918590,2	K562	blood:
6	chr8:54743278..54745985-chr8:54748911..54752561,4	K562	blood:

No data

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1031979	1.00[CEU][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs1031980	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10435587	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs10504158	0.82[YRI][hapmap]
rs11996300	0.94[EUR][1000 genomes]
rs12056486	0.87[EUR][1000 genomes]
rs12056719	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs12115070	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12234972	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs1552148	1.00[CEU][hapmap];0.82[MEX][hapmap];0.90[EUR][1000 genomes]
rs16919507	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs16919508	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16919522	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16919534	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs16919537	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16919541	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs16919563	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16919571	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs16919573	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs1872063	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1905061	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2128150	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs2170444	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs2376011	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs3735831	1.00[CEU][hapmap];0.82[MEX][hapmap];0.90[EUR][1000 genomes]
rs3757954	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41321146	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs4236945	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737192	1.00[CEU][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs4737518	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4737554	1.00[CEU][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs4737558	1.00[CEU][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs4737753	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.92[ASN][1000 genomes]
rs4737761	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4737764	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737765	1.00[CEU][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs4737821	1.00[CEU][hapmap];0.91[MEX][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes]
rs4737974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4738027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738701	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs4738884	1.00[CEU][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs4738916	1.00[CEU][hapmap]
rs55682919	0.82[EUR][1000 genomes]
rs56956173	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57071607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57550901	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58558817	0.92[EUR][1000 genomes]
rs58970885	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6473893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984257	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6986372	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[MEX][hapmap];0.89[EUR][1000 genomes]
rs6987427	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs6988009	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6988082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs6988812	0.92[EUR][1000 genomes]
rs6994851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997003	1.00[CEU][hapmap];0.90[YRI][hapmap];0.92[EUR][1000 genomes]
rs6997127	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs6999454	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs7005696	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs7006934	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7009705	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7017291	0.82[YRI][hapmap]
rs7018162	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs73680316	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73680321	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682552	0.82[EUR][1000 genomes]
rs73682568	0.81[EUR][1000 genomes]
rs73682570	0.90[EUR][1000 genomes]
rs7843701	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs900163	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs958268	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9643480	0.92[EUR][1000 genomes]
rs9643819	1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs9643820	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54687600-54753600	Weak transcription	A549	lung
2	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
5	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:54728200-54752200	Weak transcription	Stomach Mucosa	stomach
7	chr8:54732600-54752800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:54735200-54752800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:54735200-54753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:54735800-54753600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:54736200-54752800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:54737600-54752800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:54737800-54752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:54738200-54752600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:54738600-54750600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:54738600-54751600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:54738600-54751600	Strong transcription	Dnd41	blood
18	chr8:54738600-54751800	Strong transcription	Primary T cells from cord blood	blood
19	chr8:54738600-54753000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:54738600-54753800	Strong transcription	Fetal Thymus	thymus
21	chr8:54738800-54754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:54738800-54755000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:54739200-54752800	Strong transcription	Fetal Intestine Large	intestine
24	chr8:54741200-54751800	Weak transcription	Fetal Heart	heart
25	chr8:54741200-54754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:54741600-54753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:54741600-54753800	Weak transcription	Right Ventricle	heart
28	chr8:54741800-54751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:54741800-54751600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:54741800-54752200	Weak transcription	Aorta	Aorta
31	chr8:54741800-54753400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:54741800-54754800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:54742000-54753400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:54742000-54753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:54742000-54753800	Weak transcription	Colonic Mucosa	Colon
36	chr8:54743000-54751800	Weak transcription	NHDF-Ad	bronchial
37	chr8:54743200-54753600	Strong transcription	Primary B cells from cord blood	blood
38	chr8:54743800-54753400	Weak transcription	HUVEC	blood vessel
39	chr8:54744000-54753200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:54744000-54753400	Weak transcription	Fetal Kidney	kidney
41	chr8:54744200-54751600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:54744200-54752200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:54744200-54753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:54744200-54753600	Weak transcription	Fetal Brain Male	brain
45	chr8:54744200-54753600	Weak transcription	NHLF	lung
46	chr8:54744200-54754800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:54745200-54753200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:54745600-54750600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:54745600-54753200	Strong transcription	Thymus	Thymus
50	chr8:54745600-54753800	Strong transcription	Fetal Stomach	stomach

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