Variant report

Variant	rs40070
Chromosome Location	chr5:107502323-107502324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107498967..107500522-chr5:107502162..107503824,2	K562	blood:
2	chr5:107498401..107500522-chr5:107500663..107503662,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs15158	0.92[CEU][hapmap]
rs158173	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs158175	0.89[CEU][hapmap];0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs158283	0.90[CEU][hapmap]
rs185361	0.85[EUR][1000 genomes]
rs286741	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs286743	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs286744	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs286749	0.92[CEU][hapmap]
rs286750	0.82[CEU][hapmap]
rs286776	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs286777	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs286779	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs286802	0.86[CEU][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes]
rs286809	0.91[CEU][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs286818	0.92[CEU][hapmap]
rs288131	0.91[CEU][hapmap]
rs288143	0.91[CEU][hapmap]
rs288144	0.91[CEU][hapmap]
rs288154	0.92[CEU][hapmap]
rs288157	0.92[CEU][hapmap]
rs288161	0.92[CEU][hapmap]
rs288164	0.91[CEU][hapmap]
rs288169	0.89[CEU][hapmap]
rs288171	0.92[CEU][hapmap]
rs288172	0.91[CEU][hapmap]
rs288173	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs288180	0.91[CEU][hapmap]
rs288230	0.92[CEU][hapmap]
rs288232	0.91[CEU][hapmap]
rs289227	0.91[CEU][hapmap]
rs289228	0.92[CEU][hapmap]
rs34383	0.84[CEU][hapmap]
rs34415	0.92[CEU][hapmap]
rs34423	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs34428	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34432	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs40071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41129	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs41131	0.84[CEU][hapmap]
rs457378	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4957550	0.86[CHB][hapmap]
rs6870573	0.86[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107474600-107511000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:107475200-107527400	Weak transcription	Liver	Liver
4	chr5:107475800-107510400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:107476000-107535600	Weak transcription	Left Ventricle	heart
6	chr5:107480800-107521000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:107481600-107504400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:107482000-107510800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:107492200-107519800	Weak transcription	Ovary	ovary
10	chr5:107494000-107504600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:107494800-107503400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:107495400-107548800	Weak transcription	Pancreas	Pancrea
13	chr5:107496800-107528800	Weak transcription	Aorta	Aorta
14	chr5:107497800-107504600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:107501800-107502600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:107501800-107502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links