Variant report

Variant	rs899366
Chromosome Location	chr8:11430485-11430486
allele	A/G
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	FOS	chr8:11430339-11430772	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:11430325-11430745	MCF10A-Er-Src	breast:	n/a	chr8:11430509-11430518
3	SIN3AK20	chr8:11430206-11430808	MCF-7	breast:	n/a	n/a
4	CEBPB	chr8:11430353-11430648	HepG2	liver:	n/a	chr8:11430495-11430506 chr8:11430496-11430507 chr8:11430495-11430508
5	STAT3	chr8:11430454-11430568	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr8:11430424-11430676	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr8:11430360-11430654	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr8:11430342-11430743	MCF10A-Er-Src	breast:	n/a	chr8:11430509-11430518
9	STAT3	chr8:11430366-11430565	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr8:11430238-11430648	MCF-7	breast:	n/a	chr8:11430547-11430557 chr8:11430541-11430562 chr8:11430548-11430557
11	CEBPB	chr8:11430317-11430742	Hela-S3	cervix:	n/a	chr8:11430495-11430506 chr8:11430496-11430507 chr8:11430495-11430508
12	FOS	chr8:11430412-11430698	MCF10A-Er-Src	breast:	n/a	n/a
13	GATA3	chr8:11430199-11430862	MCF-7	breast:	n/a	chr8:11430547-11430557 chr8:11430541-11430562 chr8:11430548-11430557
14	FOS	chr8:11430367-11430762	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF217	chr8:11430240-11430797	MCF-7	breast:	n/a	n/a
16	STAT3	chr8:11430365-11430676	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr8:11430263-11430785	MCF-7	breast:	n/a	chr8:11430495-11430506 chr8:11430496-11430507 chr8:11430495-11430508
18	FOS	chr8:11430358-11430743	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr8:11430283-11430749	MCF-7	breast:	n/a	chr8:11430495-11430506 chr8:11430496-11430507 chr8:11430495-11430508

No.	Distal block	Cell Line	Cell type
1	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
2	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:
3	chr8:11430122..11430693-chr8:11587796..11588653,2	MCF-7	breast:
4	chr8:11430194..11430977-chr8:11603626..11604340,2	MCF-7	breast:
5	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
6	chr8:11430263..11432062-chr8:11433287..11435276,2	K562	blood:

Variant related genes	Relation type
LINC00208	TF binding region
ENSG00000170983	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10097015	0.80[AMR][1000 genomes]
rs1042689	0.80[AMR][1000 genomes]
rs11776081	0.85[CHD][hapmap]
rs12679960	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127128	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279169	0.80[AMR][1000 genomes]
rs35353728	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007439	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7011778	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs732947	0.85[CHD][hapmap]
rs7834638	1.00[JPT][hapmap]
rs7840433	1.00[JPT][hapmap]
rs968179	0.82[CEU][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1016749	chr8:11422571-11466745	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs899366	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11424400-11430800	Enhancers	Fetal Heart	heart
2	chr8:11425200-11430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:11425200-11440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11427400-11431000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr8:11428400-11431000	Enhancers	Left Ventricle	heart
6	chr8:11428400-11431200	Enhancers	Placenta	Placenta
7	chr8:11428600-11430600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:11428600-11430800	Bivalent Enhancer	NHEK	skin
9	chr8:11428800-11431000	Enhancers	Right Ventricle	heart
10	chr8:11429000-11431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:11429000-11431000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr8:11429000-11431000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr8:11429000-11431000	Enhancers	Pancreas	Pancrea
14	chr8:11429000-11431600	Enhancers	Ovary	ovary
15	chr8:11429200-11430600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:11429200-11430600	Enhancers	HMEC	breast
17	chr8:11429200-11430600	Bivalent Enhancer	HSMMtube	muscle
18	chr8:11429200-11431000	Enhancers	Gastric	stomach
19	chr8:11429200-11431000	Enhancers	Spleen	Spleen
20	chr8:11429200-11431400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr8:11429200-11432600	Enhancers	Stomach Mucosa	stomach
22	chr8:11429400-11431000	Enhancers	Esophagus	oesophagus
23	chr8:11429600-11431000	Enhancers	Right Atrium	heart
24	chr8:11429600-11431600	Enhancers	HepG2	liver
25	chr8:11429800-11431000	Enhancers	Psoas Muscle	Psoas
26	chr8:11430200-11430600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr8:11430200-11431600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr8:11430400-11430600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr8:11430400-11431000	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:11430400-11431400	Bivalent Enhancer	Hela-S3	cervix

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