Variant report

Variant	rs3768425
Chromosome Location	chr1:227178127-227178128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:227177827-227178169	K562	blood:	n/a	n/a
2	BHLHE40	chr1:227177863-227178266	K562	blood:	n/a	n/a
3	POLR2A	chr1:227177945-227178356	HUVEC	blood vessel:	n/a	n/a
4	TEAD4	chr1:227177791-227178643	K562	blood:	n/a	n/a
5	MAX	chr1:227177856-227178186	K562	blood:	n/a	n/a
6	CHD2	chr1:227177805-227178317	GM12878	blood:	n/a	n/a
7	NFIC	chr1:227177717-227178249	GM12878	blood:	n/a	n/a
8	GATA2	chr1:227177783-227178534	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr1:227177786-227178231	K562	blood:	n/a	n/a
10	TBP	chr1:227177948-227178459	K562	blood:	n/a	n/a
11	HNF4A	chr1:227177894-227178288	HepG2	liver:	n/a	chr1:227178086-227178101
12	NR2F2	chr1:227177755-227178821	K562	blood:	n/a	n/a
13	BATF	chr1:227177822-227178241	GM12878	blood:	n/a	n/a
14	MAZ	chr1:227177838-227178645	K562	blood:	n/a	n/a
15	FOS	chr1:227177825-227178173	HUVEC	blood vessel:	n/a	n/a
16	IRF3	chr1:227178117-227178127	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:227177838-227178418	K562	blood:	n/a	n/a
18	POLR2A	chr1:227177867-227178404	K562	blood:	n/a	n/a
19	CHD2	chr1:227177980-227178216	K562	blood:	n/a	n/a
20	ZMIZ1	chr1:227177960-227178285	K562	blood:	n/a	n/a
21	RCOR1	chr1:227177863-227178498	K562	blood:	n/a	n/a
22	HEY1	chr1:227177948-227178262	K562	blood:	n/a	n/a
23	ZC3H11A	chr1:227177729-227178167	K562	blood:	n/a	n/a
24	ELF1	chr1:227177908-227178457	GM12878	blood:	n/a	n/a
25	SPI1	chr1:227177914-227178128	K562	blood:	n/a	n/a
26	MAX	chr1:227177939-227178411	K562	blood:	n/a	n/a
27	IRF1	chr1:227177817-227178202	K562	blood:	n/a	n/a
28	ELF1	chr1:227177827-227178221	K562	blood:	n/a	n/a
29	GABPA	chr1:227177837-227178213	K562	blood:	n/a	n/a
30	JUN	chr1:227177797-227178340	K562	blood:	n/a	n/a
31	ELF1	chr1:227177932-227178140	HepG2	liver:	n/a	n/a
32	GATA2	chr1:227177876-227178169	K562	blood:	n/a	n/a
33	MAX	chr1:227178103-227178256	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr1:227177872-227178175	K562	blood:	n/a	n/a
35	FOXM1	chr1:227177881-227178247	GM12878	blood:	n/a	n/a
36	MYC	chr1:227177862-227178323	K562	blood:	n/a	n/a
37	YY1	chr1:227177946-227178308	GM12892	blood:	n/a	n/a
38	YY1	chr1:227178020-227178470	K562	blood:	n/a	n/a
39	UBTF	chr1:227177817-227178526	K562	blood:	n/a	n/a
40	CEBPB	chr1:227177954-227178227	K562	blood:	n/a	n/a
41	POLR2A	chr1:227177932-227178250	K562	blood:	n/a	n/a
42	IRF4	chr1:227177796-227178173	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:227177974-227178470	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr1:227177886-227178351	GM12892	blood:	n/a	n/a
45	ELF1	chr1:227177838-227178144	K562	blood:	n/a	n/a
46	HNF4G	chr1:227177929-227178238	HepG2	liver:	n/a	chr1:227178087-227178102
47	EP300	chr1:227177820-227178494	K562	blood:	n/a	n/a
48	POLR2A	chr1:227178048-227178299	HepG2	liver:	n/a	n/a
49	HCFC1	chr1:227177971-227178320	K562	blood:	n/a	n/a
50	RUNX3	chr1:227177778-227178197	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227127714..227130249-chr1:227177075..227179669,4	K562	blood:
2	chr1:227176748..227179639-chr1:227203696..227206126,2	K562	blood:
3	chr1:227176058..227178515-chr1:227186795..227190068,3	MCF-7	breast:
4	chr1:227126152..227130822-chr1:227174735..227178540,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233706	TF binding region
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1045252	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]
rs1045285	0.81[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1045286	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045287	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1045289	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045290	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916075	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11577007	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11578103	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11578479	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11580229	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11586604	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587443	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588904	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11589344	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403236	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12406714	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12409230	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12409428	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12409755	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12410103	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12593	0.96[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1319103	0.81[MEX][hapmap]
rs1343743	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1343744	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17528667	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17592479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17600627	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17600669	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600725	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1929862	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1929863	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1929864	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2104860	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2183836	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297412	0.95[CEU][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2297415	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2297416	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2297418	0.87[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3738725	0.87[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738729	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3768419	0.81[ASW][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3768421	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3768423	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3768424	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795445	0.81[ASW][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3795446	0.81[ASW][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3795449	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3795451	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795453	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61834001	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61834004	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834005	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834006	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6426558	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6426559	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6659424	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6664955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6670924	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6677602	0.92[CEU][hapmap]
rs6684821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693535	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6699400	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6704144	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68087483	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535826	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7541033	0.96[CEU][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7549465	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7549586	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7552783	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9726097	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9727512	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3768425	CABC1	cis	parietal	SCAN
rs3768425	ADCK3	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
3	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:227162400-227181600	Weak transcription	NHEK	skin
6	chr1:227163000-227180000	Weak transcription	HSMM	muscle
7	chr1:227163400-227191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:227163800-227180400	Weak transcription	Fetal Brain Male	brain
9	chr1:227173200-227178200	Weak transcription	Fetal Kidney	kidney
10	chr1:227173400-227178200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:227173400-227178600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:227173400-227183400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:227173800-227178400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:227174000-227178200	Enhancers	Brain Substantia Nigra	brain
15	chr1:227174800-227179400	Enhancers	Stomach Mucosa	stomach
16	chr1:227174800-227182000	Weak transcription	NHDF-Ad	bronchial
17	chr1:227175000-227178400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:227175200-227181200	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:227175200-227198400	Weak transcription	A549	lung
20	chr1:227175200-227210200	Weak transcription	HMEC	breast
21	chr1:227175400-227178400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:227175400-227178400	Enhancers	Psoas Muscle	Psoas
23	chr1:227175400-227178800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:227175400-227182600	Genic enhancers	Fetal Intestine Small	intestine
25	chr1:227175600-227178200	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:227175600-227178200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:227175600-227178800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:227175600-227179000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:227175600-227179200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:227175600-227180600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:227175600-227181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:227175600-227182200	Weak transcription	Brain Germinal Matrix	brain
33	chr1:227175600-227183200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:227175600-227216200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:227175800-227178400	Enhancers	Lung	lung
36	chr1:227175800-227178600	Enhancers	Colon Smooth Muscle	Colon
37	chr1:227175800-227179000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:227175800-227180400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:227175800-227181800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:227175800-227181800	Enhancers	Fetal Intestine Large	intestine
41	chr1:227176000-227178400	Enhancers	Colonic Mucosa	Colon
42	chr1:227176000-227178400	Enhancers	Right Ventricle	heart
43	chr1:227176000-227179200	Enhancers	HepG2	liver
44	chr1:227176000-227181800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:227176000-227181800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:227176000-227190200	Weak transcription	Esophagus	oesophagus
47	chr1:227176000-227191800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:227176000-227216400	Weak transcription	NHLF	lung
49	chr1:227176200-227178400	Enhancers	Brain Anterior Caudate	brain
50	chr1:227176200-227178400	Enhancers	Brain Inferior Temporal Lobe	brain

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