Variant report

Variant	rs6594691
Chromosome Location	chr5:112488061-112488062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112485402..112488072-chr5:112495550..112498480,2	K562	blood:
2	chr5:112487762..112488541-chr6:149316474..149317103,2	MCF-7	breast:
3	chr5:112482887..112485655-chr5:112487737..112490349,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10066822	0.83[AFR][1000 genomes]
rs10477488	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10478112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10478113	0.85[CEU][hapmap];0.80[LWK][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4705798	0.85[CEU][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes]
rs6594690	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7714691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7719036	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
5	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
7	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:112482600-112491400	Weak transcription	Adipose Nuclei	Adipose
10	chr5:112483000-112496800	Weak transcription	HMEC	breast
11	chr5:112483200-112495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112483400-112488800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:112483400-112489200	Weak transcription	NHLF	lung
14	chr5:112483400-112490000	Weak transcription	Left Ventricle	heart
15	chr5:112483400-112491800	Weak transcription	NHEK	skin
16	chr5:112483400-112494600	Weak transcription	Psoas Muscle	Psoas
17	chr5:112483600-112488800	Weak transcription	NHDF-Ad	bronchial
18	chr5:112483600-112489200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112484200-112491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:112484200-112495600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:112485200-112488200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:112485400-112490400	Enhancers	Ovary	ovary
23	chr5:112485800-112488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:112485800-112492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:112485800-112495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:112486000-112488600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:112486600-112488200	Enhancers	Right Atrium	heart
28	chr5:112486800-112494600	Weak transcription	Lung	lung
29	chr5:112486800-112500400	Weak transcription	Gastric	stomach
30	chr5:112487000-112488800	Weak transcription	Liver	Liver
31	chr5:112487000-112489200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:112487000-112489400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:112487200-112488400	Enhancers	Right Ventricle	heart
34	chr5:112487200-112489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:112487200-112491200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:112487200-112498200	Weak transcription	Esophagus	oesophagus
37	chr5:112487400-112489000	Enhancers	Fetal Heart	heart
38	chr5:112487600-112489600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:112487800-112488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links