Variant report

Variant	rs6472251
Chromosome Location	chr8:67037934-67037935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67037892-67037942	AG09309	skin:	n/a
2	chr8:67037892-67037942	CMK	blood:	n/a
3	chr8:67037892-67037942	AG04450	lung:	fetal
4	chr8:67037892-67037942	SK-N-MC	brain:	n/a
5	chr8:67037892-67037942	SKMC	muscle:	n/a
6	chr8:67037892-67037942	HCPEpiC	choroid plexus:	n/a
7	chr8:67037892-67037942	NH-A	brain:	n/a
8	chr8:67037892-67037942	U87	brain:	n/a
9	chr8:67037892-67037942	Hela-S3	cervix:	n/a
10	chr8:67037892-67037942	HUVEC	blood vessel:	n/a
11	chr8:67037892-67037942	HRCEpiC	kidney:	n/a
12	chr8:67037892-67037942	GM19239	blood:	n/a
13	chr8:67037892-67037942	BJ	skin:	n/a
14	chr8:67037892-67037942	HEEpiC	esophagus:	n/a
15	chr8:67037892-67037942	PFSK-1	brain:	n/a
16	chr8:67037892-67037942	NHDF-neo	bronchial:	n/a
17	chr8:67037892-67037942	HepG2	liver:	n/a
18	chr8:67037892-67037942	SK-N-SH_RA	brain:	n/a
19	chr8:67037892-67037942	HAEpiC	amniotic membrane:	n/a
20	chr8:67037892-67037942	NT2-D1	testis:	n/a
21	chr8:67037892-67037942	HRPEpiC	eye:	n/a
22	chr8:67037892-67037942	HCM	heart:	n/a
23	chr8:67037892-67037942	AG04449	skin:	fetal
24	chr8:67037892-67037942	Caco-2	colon:	n/a
25	chr8:67037892-67037942	GM06990	blood:	n/a
26	chr8:67037892-67037942	H1-hESC	embryonic stem cell:	embryo
27	chr8:67037892-67037942	SAEC	small airway:	n/a
28	chr8:67037892-67037942	AG10803	skin:	n/a
29	chr8:67037892-67037942	A549	lung:	n/a
30	chr8:67037892-67037942	HMEC	breast:	n/a
31	chr8:67037892-67037942	NHBE	bronchial:	n/a
32	chr8:67037892-67037942	IMR90	lung:	fetal
33	chr8:67037892-67037942	ProgFib	skin:	n/a
34	chr8:67037892-67037942	HCF	heart:	n/a
35	chr8:67037892-67037942	GM12892	blood:	n/a
36	chr8:67037892-67037942	NB4	blood:	n/a
37	chr8:67037892-67037942	HNPCEpiC	eye:	n/a
38	chr8:67037892-67037942	Hepatocyte	liver:	n/a
39	chr8:67037892-67037942	PANC-1	pancreas:	n/a
40	chr8:67037892-67037942	K562	blood:	n/a
41	chr8:67037892-67037942	GM12878	blood:	n/a
42	chr8:67037892-67037942	ECC-1	luminal epithelium:	n/a
43	chr8:67037892-67037942	GM12891	blood:	n/a
44	chr8:67037892-67037942	HEK293	kidney:	embryo
45	chr8:67037892-67037942	AoSMC	blood vessel:	n/a
46	chr8:67037892-67037942	HRE	kidney:	n/a
47	chr8:67037892-67037942	Jurkat	blood:	n/a
48	chr8:67037892-67037942	BE2_C	brain:	n/a
49	chr8:67037892-67037942	HIPEpiC	eye:	n/a
50	chr8:67037892-67037942	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:67024901..67027907-chr8:67036381..67039126,4	K562	blood:
2	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:
3	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:
4	chr8:67037239..67039117-chr8:67341099..67342828,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM55	CpG island
ENSG00000179041	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000246145	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10092687	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093091	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs10095931	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099957	0.85[GIH][hapmap]
rs10101457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.94[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs10109602	0.85[GIH][hapmap]
rs10113208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113415	0.83[CEU][hapmap]
rs11986216	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11986805	0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs11997416	0.86[YRI][hapmap]
rs11997605	0.83[CEU][hapmap]
rs12334408	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264487	0.82[CEU][hapmap]
rs13266516	0.83[CEU][hapmap]
rs16932426	1.00[CHB][hapmap]
rs16932461	1.00[CHB][hapmap]
rs16932465	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16932468	1.00[CHB][hapmap]
rs16932514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16932564	0.85[GIH][hapmap]
rs17306183	1.00[CHB][hapmap]
rs17307227	1.00[CHB][hapmap]
rs2357570	1.00[CHB][hapmap]
rs2357571	1.00[CHB][hapmap]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs3176921	0.88[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap]
rs4262310	0.83[CEU][hapmap]
rs4366069	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380923	1.00[CHB][hapmap]
rs4495409	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495411	1.00[CHB][hapmap]
rs4496952	1.00[ASN][1000 genomes]
rs4565445	1.00[CHB][hapmap]
rs5030877	0.86[YRI][hapmap]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472245	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs6472248	0.83[CEU][hapmap]
rs6472249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs6472255	0.86[YRI][hapmap]
rs6472256	0.86[YRI][hapmap]
rs6985796	1.00[CHB][hapmap]
rs6988195	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990624	0.86[YRI][hapmap]
rs6996265	0.86[YRI][hapmap]
rs6998761	0.94[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs6999780	0.85[GIH][hapmap]
rs7006334	1.00[CHB][hapmap]
rs7006394	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs7006903	0.85[GIH][hapmap]
rs7008359	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013524	0.88[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap]
rs73246516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap]
rs7818219	1.00[CHB][hapmap]
rs7818902	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs7820617	0.85[GIH][hapmap]
rs7822243	0.94[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7824630	0.83[CEU][hapmap]
rs7826464	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs7827531	0.83[CEU][hapmap]
rs7830926	0.91[AFR][1000 genomes]
rs7831234	0.85[GIH][hapmap]
rs7834423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836993	1.00[CHB][hapmap]
rs7838500	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs7842707	0.89[ASW][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs7842761	0.94[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs7843038	0.85[GIH][hapmap]
rs7843077	0.92[CEU][hapmap]
rs7843605	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs7845334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884839	0.83[CEU][hapmap]
rs9694082	0.94[ASW][hapmap];0.85[GIH][hapmap];0.86[YRI][hapmap];0.83[AFR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6472251	ADHFE1	cis	parietal	SCAN
rs6472251	ADHFE1	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67031600-67038000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:67032000-67038800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:67032600-67038000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:67033800-67039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:67034600-67038800	Enhancers	Fetal Heart	heart
6	chr8:67036400-67038200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:67036600-67038200	Enhancers	HSMMtube	muscle
8	chr8:67036600-67039200	Weak transcription	Fetal Thymus	thymus
9	chr8:67036800-67038000	Enhancers	K562	blood
10	chr8:67036800-67038400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:67036800-67038800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:67036800-67038800	Weak transcription	Right Atrium	heart
13	chr8:67036800-67038800	Weak transcription	Right Ventricle	heart
14	chr8:67036800-67038800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:67036800-67038800	Enhancers	HSMM	muscle
16	chr8:67036800-67039000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:67036800-67039000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:67036800-67039000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:67036800-67039000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:67036800-67039000	Weak transcription	Aorta	Aorta
21	chr8:67036800-67039000	Weak transcription	Left Ventricle	heart
22	chr8:67036800-67039400	Weak transcription	Psoas Muscle	Psoas
23	chr8:67036800-67044800	Weak transcription	Pancreas	Pancrea
24	chr8:67036800-67044800	Weak transcription	Spleen	Spleen
25	chr8:67036800-67046400	Enhancers	NHLF	lung
26	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
27	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:67037000-67038000	Enhancers	HMEC	breast
29	chr8:67037000-67038000	Enhancers	NHEK	skin
30	chr8:67037000-67038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:67037000-67038800	Weak transcription	Fetal Kidney	kidney
32	chr8:67037000-67039000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:67037000-67039000	Weak transcription	Placenta	Placenta
34	chr8:67037000-67039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:67037000-67040200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:67037200-67038800	Enhancers	Liver	Liver
37	chr8:67037200-67038800	Weak transcription	GM12878-XiMat	blood
38	chr8:67037200-67040200	Weak transcription	Adipose Nuclei	Adipose
39	chr8:67037200-67040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:67037200-67042200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:67037400-67039000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:67037400-67039000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:67037400-67039000	Enhancers	A549	lung
44	chr8:67037400-67040200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:67037400-67040600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:67037400-67042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:67037600-67038800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:67037600-67038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:67037600-67039000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:67037600-67039000	Weak transcription	Fetal Muscle Leg	muscle

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