Variant report

Variant	rs7120471
Chromosome Location	chr11:71277598-71277599
allele	A/C
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	SIN3AK20	chr11:71276936-71277720	MCF-7	breast:	n/a	n/a
2	ZNF217	chr11:71277069-71277646	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248903	TF binding region
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10736764	0.92[CEU][hapmap];0.90[JPT][hapmap]
rs10792783	0.89[CHB][hapmap]
rs10898280	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs11234196	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2664	0.92[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36164574	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592210	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7106362	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71473841	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7930212	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930916	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7931369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7933199	0.92[CEU][hapmap];0.90[JPT][hapmap]
rs7934055	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7940512	0.92[CEU][hapmap];0.90[JPT][hapmap]
rs9651750	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9651752	0.84[ASW][hapmap];0.85[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];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9651753	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651754	0.84[ASW][hapmap];0.88[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];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897899	chr11:71234107-71277981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv983039	chr11:71268641-71277624	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv825988	chr11:71277262-71294289	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7120471	TMEM134	cis	parietal	SCAN
rs7120471	PPP1CA	cis	parietal	SCAN
rs7120471	KRTAP5-9	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71275400-71277600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:71276200-71277600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:71276600-71278200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr11:71276800-71277600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:71277000-71279200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:71277200-71277600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:71277200-71277600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:71277200-71277600	Enhancers	Left Ventricle	heart
9	chr11:71277200-71277800	Enhancers	Fetal Brain Male	brain
10	chr11:71277200-71278000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr11:71277200-71278200	Enhancers	Spleen	Spleen
12	chr11:71277200-71280400	Enhancers	Adipose Nuclei	Adipose
13	chr11:71277400-71277600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:71277400-71277600	Enhancers	Brain Substantia Nigra	brain
15	chr11:71277400-71277600	Enhancers	Fetal Intestine Small	intestine
16	chr11:71277400-71277600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr11:71277400-71277600	Enhancers	Right Atrium	heart
18	chr11:71277400-71277600	Bivalent Enhancer	HMEC	breast
19	chr11:71277400-71277800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr11:71277400-71278000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:71277400-71278000	Enhancers	Lung	lung
22	chr11:71277400-71278400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:71277400-71279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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