Variant report

Variant	rs1940225
Chromosome Location	chr11:100760519-100760520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100760451..100762134-chr11:100763401..100765846,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10488785	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11224506	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224510	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2034017	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2509107	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs471933	0.87[CEU][hapmap]
rs4754707	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4754715	0.87[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs561268	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs581921	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs612046	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs629813	0.94[CEU][hapmap];0.95[CHB][hapmap]
rs634636	0.88[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs651301	0.94[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs664212	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100749600-100761200	Weak transcription	HSMM	muscle
2	chr11:100750600-100760800	Weak transcription	NHDF-Ad	bronchial
3	chr11:100752800-100761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:100755000-100766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:100755400-100760600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:100755800-100760800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:100758400-100798400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:100758600-100760600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:100758600-100773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:100758600-100795200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:100758800-100789400	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:100758800-100791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:100759000-100760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:100759000-100761400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:100759400-100761000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:100759400-100761600	Enhancers	Fetal Heart	heart
17	chr11:100759400-100761800	Enhancers	Left Ventricle	heart
18	chr11:100759600-100761400	Enhancers	NH-A	brain
19	chr11:100760000-100760800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:100760000-100760800	Enhancers	Right Atrium	heart
21	chr11:100760000-100760800	Enhancers	Right Ventricle	heart
22	chr11:100760200-100761800	Enhancers	Liver	Liver
23	chr11:100760400-100762600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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