Variant report

Variant	rs7956267
Chromosome Location	chr12:12435058-12435059
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12428303..12430629-chr12:12434266..12436457,2	MCF-7	breast:
2	chr12:12420321..12422188-chr12:12434856..12437059,2	MCF-7	breast:
3	chr12:12419688..12421380-chr12:12433411..12435070,2	MCF-7	breast:
4	chr12:12419888..12423743-chr12:12432104..12435678,3	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10431302	0.81[CHB][hapmap]
rs2417089	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7302838	0.81[EUR][1000 genomes]
rs7962366	0.81[CHB][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7956267	LRP6	cis	cerebellum	SCAN
rs7956267	CSDA	cis	parietal	SCAN
rs7956267	M6PR	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12426600-12435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:12426600-12435400	Weak transcription	NHDF-Ad	bronchial
4	chr12:12432000-12435200	Weak transcription	NHLF	lung
5	chr12:12432400-12435600	Weak transcription	Osteobl	bone
6	chr12:12432600-12435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:12433200-12436800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:12433800-12436600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:12433800-12437600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:12433800-12437600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:12434000-12437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:12434200-12436800	Weak transcription	Aorta	Aorta
13	chr12:12434400-12435200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:12434400-12435200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:12434400-12435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:12434400-12435400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:12434400-12435400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:12434400-12436400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:12434400-12443000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:12434800-12437600	Enhancers	Fetal Brain Male	brain
21	chr12:12435000-12436200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:12435000-12436600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:12435000-12436800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:12435000-12437000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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