Variant report

Variant	rs11087387
Chromosome Location	chr20:22549179-22549180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr20:22548633-22549215	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr20:22547785-22550361	NT2-D1	testis:	n/a	n/a
3	SIN3A	chr20:22548975-22549268	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr20:22548639-22549785	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr20:22549079-22549442	H1-hESC	embryonic stem cell:	n/a	chr20:22549157-22549169
6	E2F6	chr20:22549055-22549571	H1-hESC	embryonic stem cell:	n/a	chr20:22549157-22549169 chr20:22549462-22549469 chr20:22549462-22549473
7	CTBP2	chr20:22548308-22549987	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22537625..22541473-chr20:22546828..22550085,4	MCF-7	breast:

Variant related genes	Relation type
LINC00261	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11087388	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203873	0.93[EUR][1000 genomes]
rs1203875	0.93[EUR][1000 genomes]
rs1203876	0.93[EUR][1000 genomes]
rs1203877	0.93[EUR][1000 genomes]
rs1203879	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs1203880	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs1203881	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs1203883	0.93[EUR][1000 genomes]
rs1203884	1.00[CEU][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes]
rs1203886	0.93[EUR][1000 genomes]
rs1203889	0.93[EUR][1000 genomes]
rs1203892	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1203894	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1203895	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2277762	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2277763	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2471	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs4815127	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5029909	0.80[EUR][1000 genomes]
rs6036145	0.85[EUR][1000 genomes]
rs6036146	0.98[EUR][1000 genomes]
rs6036152	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6048183	0.98[EUR][1000 genomes]
rs6048184	0.89[EUR][1000 genomes]
rs6048186	0.95[EUR][1000 genomes]
rs6048191	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048192	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048196	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048197	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048199	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048200	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048202	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048205	0.82[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6113722	0.81[EUR][1000 genomes]
rs72470563	0.82[AFR][1000 genomes]
rs73300990	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73300991	0.84[ASN][1000 genomes]
rs73300993	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs932560	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3381101	chr20:22548552-22551550	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22544600-22549400	Genic enhancers	Liver	Liver
2	chr20:22547000-22550800	Strong transcription	HepG2	liver
3	chr20:22547800-22549800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:22548000-22549200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:22548400-22549400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr20:22548400-22549400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr20:22548400-22549800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr20:22548400-22549800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr20:22548600-22549400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr20:22548600-22549400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr20:22548600-22549600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr20:22548600-22549600	Enhancers	Lung	lung
13	chr20:22548600-22550400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr20:22548800-22549200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:22548800-22549200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:22548800-22549200	Bivalent Enhancer	Right Ventricle	heart
17	chr20:22548800-22549200	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr20:22548800-22549400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr20:22548800-22549400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr20:22548800-22549400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:22548800-22549400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr20:22548800-22549400	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr20:22548800-22549600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:22548800-22549600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr20:22548800-22549600	Bivalent Enhancer	Spleen	Spleen
26	chr20:22548800-22549800	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr20:22548800-22549800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr20:22548800-22549800	Bivalent Enhancer	HMEC	breast
29	chr20:22548800-22550000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr20:22548800-22550000	Active TSS	Pancreas	Pancrea
31	chr20:22549000-22549200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr20:22549000-22549200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:22549000-22549200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr20:22549000-22549200	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr20:22549000-22549200	Bivalent/Poised TSS	Small Intestine	intestine
36	chr20:22549000-22549400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr20:22549000-22549400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr20:22549000-22549600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr20:22549000-22549600	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr20:22549000-22549600	Active TSS	Gastric	stomach
41	chr20:22549000-22549800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:22549000-22550000	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr20:22549000-22551400	Weak transcription	K562	blood

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