Variant report

Variant	rs35520511
Chromosome Location	chr2:40714970-40714971
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40714227..40715097-chr2:40987004..40987688,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs13001437	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13003735	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13014062	0.84[EUR][1000 genomes]
rs13020531	0.84[EUR][1000 genomes]
rs13025964	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13026982	0.84[EUR][1000 genomes]
rs13034467	0.82[EUR][1000 genomes]
rs17026064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17026071	0.84[EUR][1000 genomes]
rs17026128	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34076394	0.84[EUR][1000 genomes]
rs34144937	0.84[EUR][1000 genomes]
rs34186538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34205507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34214503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34272753	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34446865	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34466654	0.86[EUR][1000 genomes]
rs34802220	0.86[EUR][1000 genomes]
rs34895858	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34923862	0.84[EUR][1000 genomes]
rs35139526	0.84[EUR][1000 genomes]
rs35306270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35963461	0.84[EUR][1000 genomes]
rs4140728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4952415	0.84[EUR][1000 genomes]
rs4993292	0.91[EUR][1000 genomes]
rs58398246	0.94[AMR][1000 genomes]
rs61181649	0.84[EUR][1000 genomes]
rs71441105	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40703600-40716400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:40707200-40715400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:40708000-40716000	Weak transcription	Psoas Muscle	Psoas
4	chr2:40711000-40715400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:40711600-40716200	Weak transcription	Left Ventricle	heart
6	chr2:40712000-40716000	Weak transcription	Aorta	Aorta
7	chr2:40712400-40716400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:40714200-40715400	Enhancers	Colon Smooth Muscle	Colon
9	chr2:40714200-40716000	Flanking Active TSS	Fetal Heart	heart
10	chr2:40714600-40715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:40714800-40715000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:40714800-40715000	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr2:40714800-40715400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:40714800-40715400	Enhancers	Right Atrium	heart
15	chr2:40714800-40715400	Enhancers	NHDF-Ad	bronchial
16	chr2:40714800-40715400	Enhancers	NHLF	lung
17	chr2:40714800-40715600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:40714800-40715600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:40714800-40715600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:40714800-40715800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:40714800-40716200	Enhancers	HSMM	muscle
22	chr2:40714800-40716400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:40714800-40716400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:40714800-40716400	Enhancers	Fetal Kidney	kidney
25	chr2:40714800-40717200	Enhancers	Primary hematopoietic stem cells	blood

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