Variant report

Variant	rs7316271
Chromosome Location	chr12:22090462-22090463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:22090403-22090568	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22085812..22088348-chr12:22089764..22092154,2	K562	blood:

Variant related genes	Relation type
ABCC9	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10743426	0.88[JPT][hapmap]
rs10770867	0.88[JPT][hapmap]
rs10770870	0.84[AMR][1000 genomes]
rs10770871	0.88[JPT][hapmap]
rs11046230	0.94[JPT][hapmap];0.91[MEX][hapmap]
rs11046235	0.83[AMR][1000 genomes]
rs12366938	0.88[JPT][hapmap]
rs12371738	0.84[ASN][1000 genomes]
rs1356370	0.94[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs1421602	0.88[JPT][hapmap]
rs1517276	0.94[JPT][hapmap]
rs2138723	0.94[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2176394	0.94[JPT][hapmap];0.84[AMR][1000 genomes]
rs2277405	0.88[JPT][hapmap]
rs2418021	0.88[JPT][hapmap]
rs35677639	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759236	0.94[JPT][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes]
rs4148650	0.94[JPT][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes]
rs4148654	0.88[JPT][hapmap]
rs4148655	0.84[JPT][hapmap]
rs4148656	0.88[JPT][hapmap]
rs4148657	0.88[JPT][hapmap]
rs4148660	0.88[JPT][hapmap]
rs4762722	0.81[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7136887	0.88[JPT][hapmap]
rs7977434	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs870134	0.94[JPT][hapmap];0.85[AMR][1000 genomes]
rs870135	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7316271	SLCO1C1	cis	parietal	SCAN
rs7316271	SOX5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
3	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:22059400-22091800	Weak transcription	Liver	Liver
5	chr12:22060800-22092200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:22066600-22092000	Weak transcription	NHLF	lung
7	chr12:22071800-22092000	Weak transcription	Right Ventricle	heart
8	chr12:22083000-22092000	Weak transcription	Fetal Lung	lung
9	chr12:22083800-22091600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:22084600-22092000	Weak transcription	Fetal Kidney	kidney
11	chr12:22086000-22091600	Weak transcription	Adipose Nuclei	Adipose
12	chr12:22086200-22092600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:22087800-22093000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:22088200-22092400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:22089400-22090800	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:22089400-22091600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:22089600-22092200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:22090000-22090800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:22090000-22091000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:22090200-22092200	Enhancers	Fetal Heart	heart
21	chr12:22090400-22090600	Active TSS	Left Ventricle	heart
22	chr12:22090400-22090800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:22090400-22091800	Enhancers	NHDF-Ad	bronchial

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