Variant report

Variant	rs6759896
Chromosome Location	chr2:234210972-234210973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234205572..234208233-chr2:234208734..234211089,2	K562	blood:
2	chr2:234209576..234212564-chr2:234237690..234239510,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1045095	0.86[CHB][hapmap]
rs11685932	0.82[CHB][hapmap]
rs11891546	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs13005285	0.91[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2241877	0.86[CHB][hapmap]
rs3792110	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs6431270	0.89[ASN][1000 genomes]
rs6431655	0.86[CHB][hapmap]
rs6431659	0.82[CHB][hapmap]
rs6705993	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6717493	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6737398	0.82[CHB][hapmap]
rs6754677	0.82[CHB][hapmap]

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	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6759896	ATG16L1	cis	cerebellum	SCAN
rs6759896	SCARNA5	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:234203400-234216000	Weak transcription	Hela-S3	cervix
3	chr2:234204000-234211000	Weak transcription	Fetal Lung	lung
4	chr2:234205000-234216200	Weak transcription	Left Ventricle	heart
5	chr2:234205200-234211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234205200-234211800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:234205400-234211800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:234205400-234213400	Weak transcription	Lung	lung
9	chr2:234205400-234219800	Weak transcription	Spleen	Spleen
10	chr2:234206000-234214800	Weak transcription	Pancreas	Pancrea
11	chr2:234206000-234215400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:234206000-234218600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:234206400-234213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:234206400-234216200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:234206400-234218800	Weak transcription	Right Atrium	heart
16	chr2:234207800-234216000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:234209600-234216000	Weak transcription	Fetal Stomach	stomach
18	chr2:234210000-234212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:234210400-234211000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:234210400-234211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:234210800-234211000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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