Variant report

Variant	rs36695
Chromosome Location	chr5:127549187-127549188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127548790..127549558-chr5:128180685..128181505,2	MCF-7	breast:
2	chr5:127549084..127549689-chr5:127834386..127835205,3	MCF-7	breast:
3	chr5:127548673..127549835-chr5:129103413..129104185,6	K562	blood:
4	chr5:127548856..127549541-chr5:127686521..127687077,2	MCF-7	breast:
5	chr5:127548697..127549611-chr5:128010291..128011144,2	K562	blood:
6	chr5:127548617..127549644-chr5:127686173..127687070,3	MCF-7	breast:
7	chr5:127549084..127549659-chr5:128177723..128178409,2	MCF-7	breast:
8	chr5:127548634..127549618-chr5:127834133..127835328,8	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10063647	0.81[CEU][hapmap]
rs10067555	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs1105315	0.81[ASN][1000 genomes]
rs251215	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs251388	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36696	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36699	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36716	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs790153	0.88[CEU][hapmap];0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs790156	0.85[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap]
rs806100	0.88[CEU][hapmap]
rs809841	0.88[CEU][hapmap];0.85[CHB][hapmap];0.81[ASN][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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv969272	chr5:127544309-127551686	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs36695	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx
rs36695	CSF2	cis	parietal	SCAN
rs36695	SLC12A2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127537600-127549200	Weak transcription	A549	lung
2	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:127544600-127552200	Weak transcription	Left Ventricle	heart
4	chr5:127547800-127549400	Enhancers	Fetal Muscle Leg	muscle
5	chr5:127547800-127549800	Enhancers	Fetal Stomach	stomach
6	chr5:127548000-127549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:127548200-127549400	Enhancers	Fetal Intestine Small	intestine
8	chr5:127548400-127552800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:127548600-127549400	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:127548800-127549400	Enhancers	Fetal Heart	heart
11	chr5:127549000-127549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:127549000-127549400	Enhancers	Fetal Thymus	thymus
13	chr5:127549000-127552800	Weak transcription	Esophagus	oesophagus

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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