Variant report

Variant	rs2228500
Chromosome Location	chr12:48526712-48526713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48520102..48522830-chr12:48525176..48527649,3	MCF-7	breast:
2	chr12:48499471..48501455-chr12:48525096..48527128,3	MCF-7	breast:
3	chr12:48523386..48526206-chr12:48526341..48529296,3	K562	blood:
4	chr12:48518849..48522822-chr12:48523598..48527122,4	K562	blood:
5	chr12:48514233..48517201-chr12:48525385..48527405,2	K562	blood:
6	chr12:48525679..48529309-chr12:48532044..48535896,3	K562	blood:
7	chr12:48524575..48527145-chr12:48529433..48531470,2	K562	blood:

Variant related genes	Relation type
ENSG00000152556	Chromatin interaction
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10082861	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10219623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10219645	0.89[ASN][1000 genomes]
rs10467101	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs10875724	0.93[JPT][hapmap]
rs10875725	0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs10875730	0.80[EUR][1000 genomes]
rs10875731	0.82[EUR][1000 genomes]
rs10875732	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes]
rs10875735	0.92[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10875736	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10875737	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10875738	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10875740	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10875745	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.89[MKK][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10875746	0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875747	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875748	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875750	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875756	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875762	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10875767	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs10875770	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap]
rs10875772	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap]
rs10875792	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs10875793	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs11168355	1.00[GIH][hapmap];0.85[LWK][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap]
rs11168357	0.96[GIH][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap]
rs11168369	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs11168370	0.81[EUR][1000 genomes]
rs11168371	0.93[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs11168374	0.82[EUR][1000 genomes]
rs11168383	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11168386	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11168401	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11168403	0.85[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11168413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11168414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168415	0.97[ASN][1000 genomes]
rs11168416	0.97[ASN][1000 genomes]
rs11168418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168420	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168421	0.94[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11168422	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168425	0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11168427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168433	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168450	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs11168459	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap]
rs11168516	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs11558768	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12228854	0.82[YRI][hapmap]
rs12296244	0.82[EUR][1000 genomes]
rs12297004	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12297470	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12301339	0.89[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12304476	0.84[ASW][hapmap];0.93[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12305182	0.93[JPT][hapmap]
rs12305511	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs12305647	0.84[EUR][1000 genomes]
rs12306290	0.94[ASN][1000 genomes]
rs12306451	0.84[ASW][hapmap];0.93[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12310813	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12310999	0.82[EUR][1000 genomes]
rs12311774	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12311953	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12312134	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12313300	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12313404	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12315625	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1471997	0.86[JPT][hapmap]
rs17122620	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17122666	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17122812	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs1859445	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2012773	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2079295	0.93[JPT][hapmap]
rs2107638	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2158516	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2269933	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2269935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269936	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs2279464	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2286021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782910	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3782911	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3809322	0.82[YRI][hapmap]
rs4760609	1.00[GIH][hapmap];0.93[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs4760619	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4760622	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs4760680	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4760681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760684	0.97[ASN][1000 genomes]
rs4760687	0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4760689	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760690	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4760695	0.84[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs4760696	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs4760697	0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs58952582	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60106007	0.97[ASN][1000 genomes]
rs60761335	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61343568	0.91[ASN][1000 genomes]
rs61918774	0.82[EUR][1000 genomes]
rs61918806	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61918809	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61918810	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6580659	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs7135779	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs719008	0.93[JPT][hapmap]
rs725454	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7299135	0.93[JPT][hapmap]
rs7299271	0.93[JPT][hapmap]
rs73102065	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73102067	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7485355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7486424	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs886588	0.84[ASW][hapmap];0.93[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9634261	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs989144	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2228500	PRKAG1	cis	parietal	SCAN
rs2228500	RP1-228P16.1	cis	Heart Left Ventricle	GTEx
rs2228500	H1FNT	cis	cerebellum	SCAN
rs2228500	RP1-228P16.1	cis	Adipose Subcutaneous	GTEx
rs2228500	RP1-228P16.1	cis	Skin Sun Exposed Lower leg	GTEx
rs2228500	FAM186B	cis	parietal	SCAN
rs2228500	ASB8	cis	parietal	SCAN
rs2228500	SENP1	cis	cerebellum	SCAN
rs2228500	RP1-228P16.1	cis	Artery Tibial	GTEx
rs2228500	SENP1	cis	parietal	SCAN
rs2228500	LMBR1L	cis	cerebellum	SCAN
rs2228500	LOC255411	cis	cerebellum	SCAN
rs2228500	ASB8	cis	cerebellum	SCAN
rs2228500	RP1-228P16.1	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48513600-48527000	Weak transcription	Pancreas	Pancrea
2	chr12:48513800-48526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:48514200-48527000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:48515600-48535600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:48515800-48535600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:48516200-48529600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:48516400-48529400	Strong transcription	Ovary	ovary
13	chr12:48516400-48529600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:48516400-48535600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:48516400-48535800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:48516400-48542000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:48516400-48545000	Strong transcription	GM12878-XiMat	blood
18	chr12:48516400-48545400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:48516400-48545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:48516400-48547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:48516400-48547200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
23	chr12:48516600-48527800	Weak transcription	Small Intestine	intestine
24	chr12:48516600-48536600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:48516600-48543200	Weak transcription	Stomach Mucosa	stomach
26	chr12:48516600-48545400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:48516600-48545600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:48516800-48529400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:48516800-48530400	Strong transcription	Osteobl	bone
30	chr12:48516800-48547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:48517200-48529600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:48517600-48547400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:48518200-48529800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr12:48518600-48547600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:48519000-48527800	Weak transcription	Fetal Thymus	thymus
36	chr12:48519600-48547200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:48519800-48529800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:48520000-48529400	Strong transcription	NHEK	skin
39	chr12:48520000-48545600	Strong transcription	Hela-S3	cervix
40	chr12:48520600-48529400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:48520600-48529600	Strong transcription	HSMM	muscle
42	chr12:48520600-48529800	Strong transcription	Brain Germinal Matrix	brain
43	chr12:48520800-48547400	Strong transcription	Fetal Brain Female	brain
44	chr12:48521000-48529400	Strong transcription	Brain Anterior Caudate	brain
45	chr12:48521400-48529600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr12:48522000-48529400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:48522400-48534400	Weak transcription	NHDF-Ad	bronchial
48	chr12:48522600-48529400	Strong transcription	Aorta	Aorta
49	chr12:48522600-48529600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:48522600-48532800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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