Variant report

Variant	rs10501576
Chromosome Location	chr11:84576644-84576645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10501575	1.00[CHD][hapmap]
rs10898301	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10898309	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234189	1.00[CHD][hapmap]
rs11234194	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11234219	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234221	0.88[CEU][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11234222	0.88[CEU][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11234230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12274130	0.95[LWK][hapmap];1.00[YRI][hapmap]
rs12281095	0.80[LWK][hapmap];0.94[YRI][hapmap]
rs17741384	1.00[CHD][hapmap]
rs17808541	1.00[CHD][hapmap]
rs17808696	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212970	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs4367967	1.00[YRI][hapmap]
rs7101454	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7113831	0.92[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs7129466	1.00[CHB][hapmap]
rs957438	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][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	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1045974	chr11:84187214-84708462	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1049964	chr11:84315563-84578721	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1048051	chr11:84419442-84784233	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541109	chr11:84419442-84784233	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv898036	chr11:84420132-84576644	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv817205	chr11:84497319-84628963	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv898040	chr11:84524697-84600597	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv516146	chr11:84537908-84576644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2760388	chr11:84541974-84577299	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv555625	chr11:84547441-84629013	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv555627	chr11:84547595-84581522	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2757458	chr11:84556678-84593655	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2759844	chr11:84556678-84593655	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10501576	FAM181B	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84567400-84576800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:84571000-84579400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:84572200-84576800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:84572400-84577200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:84576000-84577600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:84576000-84577800	Enhancers	NH-A	brain
7	chr11:84576200-84577200	Enhancers	Colon Smooth Muscle	Colon
8	chr11:84576200-84577200	Enhancers	Fetal Heart	heart
9	chr11:84576200-84577400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:84576200-84577400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:84576200-84577400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:84576200-84577400	Enhancers	HSMM	muscle
13	chr11:84576200-84577400	Enhancers	Osteobl	bone
14	chr11:84576200-84577600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:84576200-84577600	Enhancers	Hela-S3	cervix
16	chr11:84576200-84577600	Enhancers	HSMMtube	muscle
17	chr11:84576200-84577600	Enhancers	NHDF-Ad	bronchial
18	chr11:84576200-84577800	Enhancers	NHLF	lung
19	chr11:84576400-84577200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:84576400-84577200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:84576400-84577400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:84576400-84577400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:84576400-84577400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:84576400-84577600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:84576600-84577600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:84576600-84577600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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