Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:48345272..48347198-chr12:48349693..48351392,2	MCF-7	breast:
2	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
3	chr12:48345662..48347551-chr12:48498551..48500954,2	MCF-7	breast:
4	chr12:48346353..48348105-chr12:48388384..48390746,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11168326	0.92[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12426835	0.85[AMR][1000 genomes]
rs2071356	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2898045	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4237856	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4307774	0.82[AMR][1000 genomes]
rs4307775	0.88[AMR][1000 genomes]
rs4344559	1.00[ASW][hapmap];0.89[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4417373	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4494361	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57624904	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs740025	0.82[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4366552	DNAJC22	cis	cerebellum	SCAN
rs4366552	VDR	cis	parietal	SCAN
rs4366552	RACGAP1P	cis	parietal	SCAN
rs4366552	TMEM106C	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48338400-48348800	Enhancers	HMEC	breast
2	chr12:48341200-48347600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48341800-48347600	Weak transcription	Fetal Lung	lung
4	chr12:48343800-48347600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:48344000-48347800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:48344200-48346800	Weak transcription	Colonic Mucosa	Colon
7	chr12:48344200-48347600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:48344400-48346800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:48344400-48347200	Weak transcription	Liver	Liver
10	chr12:48344400-48349000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:48345200-48347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:48345200-48348800	Enhancers	NHEK	skin
13	chr12:48345800-48348400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:48346000-48347000	Weak transcription	Placenta	Placenta
15	chr12:48346000-48347200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:48346000-48347400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:48346600-48347200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:48346600-48348600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:48346800-48347000	Enhancers	Colonic Mucosa	Colon
20	chr12:48346800-48349200	Enhancers	Rectal Mucosa Donor 31	rectum

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