Variant report

Variant	rs12695600
Chromosome Location	chr3:133689812-133689813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133687273..133690612-chr3:133691267..133693178,3	MCF-7	breast:
2	chr3:133689098..133691983-chr3:133695476..133697477,2	K562	blood:
3	chr3:133688128..133691070-chr3:133695886..133697477,3	K562	blood:
4	chr3:133688128..133690798-chr3:133696100..133697808,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12695599	0.82[AFR][1000 genomes]
rs4241363	0.88[ASW][hapmap]
rs4327389	0.82[CEU][hapmap]
rs4854776	0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs4854777	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4854779	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646392	0.82[CEU][hapmap]

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	nsv527655	chr3:133687864-133696285	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12695600	TF	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133663800-133694800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:133664000-133705400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:133664800-133713000	Weak transcription	Gastric	stomach
4	chr3:133675400-133698800	Weak transcription	Right Ventricle	heart
5	chr3:133682800-133699000	Weak transcription	Stomach Mucosa	stomach
6	chr3:133687400-133690600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:133687600-133696600	Weak transcription	Left Ventricle	heart
8	chr3:133687600-133697200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:133688000-133710800	Weak transcription	Fetal Lung	lung
10	chr3:133688200-133692000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:133688800-133690200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:133689400-133690200	Enhancers	Right Atrium	heart
13	chr3:133689400-133690400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:133689400-133690600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:133689600-133690200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:133689600-133690200	Enhancers	Ovary	ovary
17	chr3:133689600-133690400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:133689600-133691800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:133689800-133690000	Enhancers	Esophagus	oesophagus
20	chr3:133689800-133690200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:133689800-133690200	Enhancers	Adipose Nuclei	Adipose
22	chr3:133689800-133690200	Enhancers	Lung	lung
23	chr3:133689800-133695600	Weak transcription	Spleen	Spleen

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