Variant report

Variant	rs6470144
Chromosome Location	chr8:124152245-124152246
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124150012..124152618-chr8:124154439..124156417,2	K562	blood:
2	chr8:124146952..124149281-chr8:124151497..124153020,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10101435	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10101626	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs10481150	0.88[CEU][hapmap];0.89[CHB][hapmap];0.80[EUR][1000 genomes]
rs10808525	0.83[GIH][hapmap]
rs11781124	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12546649	0.85[GIH][hapmap]
rs1670189	0.82[TSI][hapmap]
rs16898012	0.83[GIH][hapmap]
rs1713734	0.81[EUR][1000 genomes]
rs1713736	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs2272723	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2272724	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2385165	0.83[GIH][hapmap]
rs35794820	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6470143	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984928	0.86[ASN][1000 genomes]
rs6991182	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6991323	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7000107	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7002086	1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7004974	0.84[ASN][1000 genomes]
rs7006638	0.83[ASN][1000 genomes]
rs7006862	0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7008474	0.89[CHB][hapmap];0.89[CHD][hapmap]
rs7818440	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7827419	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs7828295	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7833077	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7844632	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
2	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
6	chr8:124086600-124168800	Weak transcription	Lung	lung
7	chr8:124096200-124168800	Weak transcription	Liver	Liver
8	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:124098400-124166600	Weak transcription	Gastric	stomach
10	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
12	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
13	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:124112800-124155400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
18	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
20	chr8:124114600-124152600	Weak transcription	Psoas Muscle	Psoas
21	chr8:124116200-124156600	Weak transcription	NHEK	skin
22	chr8:124116400-124168800	Weak transcription	Ovary	ovary
23	chr8:124127200-124168800	Weak transcription	Brain Substantia Nigra	brain
24	chr8:124128600-124157000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:124129000-124168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:124129000-124169000	Weak transcription	Small Intestine	intestine
27	chr8:124132800-124153200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:124132800-124168800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:124133800-124161000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:124134000-124160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:124134200-124168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:124137600-124164800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:124137600-124164800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:124137800-124168800	Weak transcription	Colonic Mucosa	Colon
35	chr8:124138200-124160000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:124138400-124154200	Weak transcription	NHLF	lung
37	chr8:124138400-124160000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:124138600-124159400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:124138600-124165800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:124138800-124160000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:124139000-124165600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:124139600-124159400	Strong transcription	Fetal Thymus	thymus
43	chr8:124140400-124168800	Weak transcription	Right Ventricle	heart
44	chr8:124141000-124168800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:124141800-124153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:124142400-124152400	Strong transcription	Thymus	Thymus
47	chr8:124142600-124153000	Weak transcription	HepG2	liver
48	chr8:124142600-124168800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:124142800-124155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:124144400-124158400	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links