Variant report

Variant	rs10747527
Chromosome Location	chr12:48332724-48332725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
2	chr12:48212555..48214576-chr12:48330977..48333958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10783219	0.95[CHB][hapmap];0.85[AMR][1000 genomes]
rs10783221	0.91[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs10875699	0.87[AMR][1000 genomes]
rs10875704	0.86[JPT][hapmap]
rs10875705	0.86[JPT][hapmap]
rs11168315	0.85[JPT][hapmap]
rs12831006	0.82[JPT][hapmap]
rs4237855	0.87[MEX][hapmap]
rs4411326	0.83[JPT][hapmap]
rs4578458	0.88[AMR][1000 genomes]
rs4578459	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760603	0.87[AMR][1000 genomes]
rs4760655	0.95[CHB][hapmap];0.85[AMR][1000 genomes]
rs4760669	0.86[AMR][1000 genomes]
rs4760670	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760672	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580644	0.85[AMR][1000 genomes]
rs6580645	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7132324	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes]
rs7299460	0.85[CHB][hapmap]
rs7312286	0.95[CHB][hapmap];0.87[AMR][1000 genomes]
rs7970314	0.85[CHB][hapmap];0.82[CHD][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10747527	H1FNT	cis	parietal	SCAN
rs10747527	TMEM106C	cis	parietal	SCAN
rs10747527	RACGAP1P	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48329400-48335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:48329800-48332800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:48331200-48333000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:48331200-48333800	Enhancers	Hela-S3	cervix
6	chr12:48331800-48332800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:48331800-48332800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:48331800-48333000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:48331800-48334600	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:48332000-48332800	Enhancers	NHEK	skin
11	chr12:48332000-48334200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr12:48332000-48334200	Enhancers	HSMMtube	muscle
13	chr12:48332200-48332800	Enhancers	HMEC	breast
14	chr12:48332200-48333000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:48332200-48333400	Enhancers	Placenta	Placenta
16	chr12:48332200-48333400	Enhancers	Left Ventricle	heart
17	chr12:48332200-48333600	Enhancers	Small Intestine	intestine
18	chr12:48332400-48332800	Enhancers	Right Atrium	heart
19	chr12:48332400-48332800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:48332400-48333000	Enhancers	Right Ventricle	heart
21	chr12:48332400-48333400	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:48332400-48333400	Enhancers	Fetal Muscle Leg	muscle
23	chr12:48332400-48333400	Enhancers	Spleen	Spleen
24	chr12:48332400-48334200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:48332600-48333000	Enhancers	HSMM	muscle
26	chr12:48332600-48333400	Weak transcription	Colonic Mucosa	Colon
27	chr12:48332600-48339600	Weak transcription	NHDF-Ad	bronchial

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