Variant report

Variant	rs192196
Chromosome Location	chr5:75666955-75666956
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	chr5:75630696..75632382-chr5:75666521..75668676,2	K562	blood:
2	chr5:75661896..75664884-chr5:75666923..75670034,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2455429	0.80[EUR][1000 genomes]
rs246784	0.94[EUR][1000 genomes]
rs246785	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246789	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2913245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972864	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972865	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972866	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs372733	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405030	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235697	0.93[EUR][1000 genomes]
rs4703706	0.88[EUR][1000 genomes]
rs4704307	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75660200-75667800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:75660200-75667800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:75660200-75668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:75660400-75667800	Weak transcription	HepG2	liver
5	chr5:75660400-75668000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:75663000-75667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:75663800-75668200	Weak transcription	Spleen	Spleen
8	chr5:75664000-75667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:75664200-75667800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:75664200-75667800	Weak transcription	NHEK	skin
11	chr5:75664200-75668000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:75664400-75667200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:75664400-75667800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:75664400-75668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:75665000-75667200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:75665000-75667400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:75665000-75667800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:75665400-75667800	Weak transcription	A549	lung
19	chr5:75665800-75667200	Weak transcription	Placenta	Placenta
20	chr5:75666200-75667200	Weak transcription	K562	blood

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