Variant report

Variant	rs57748606
Chromosome Location	chr2:31439635-31439636
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	chr2:31437754..31439740-chr2:31441574..31443729,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56404374	1.00[AFR][1000 genomes]
rs61545713	0.83[AFR][1000 genomes]
rs73921566	1.00[AMR][1000 genomes]
rs73921567	1.00[AMR][1000 genomes]
rs73921575	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921578	1.00[AFR][1000 genomes]
rs73921579	1.00[AFR][1000 genomes]
rs73921580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921582	1.00[AFR][1000 genomes]
rs73921583	1.00[AFR][1000 genomes]
rs73921584	1.00[AFR][1000 genomes]
rs73921587	1.00[AFR][1000 genomes]
rs73921589	1.00[AFR][1000 genomes]
rs73921591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921593	1.00[AFR][1000 genomes]
rs73921595	1.00[AMR][1000 genomes]
rs73921597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73921598	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430635	chr2:31420415-31464385	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009712	chr2:31424588-31468364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1000416	chr2:31424588-31470845	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv581268	chr2:31425783-31467079	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1001299	chr2:31428030-31464385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv430646	chr2:31428030-31464385	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1010164	chr2:31436026-31439821	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31430200-31441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:31435800-31439800	Enhancers	GM12878-XiMat	blood
3	chr2:31436200-31440200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:31436400-31441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:31436400-31442200	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:31436800-31441800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:31436800-31442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:31436800-31446200	Enhancers	Primary B cells from cord blood	blood
9	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:31437000-31439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:31437800-31441200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:31438000-31440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:31438600-31440400	Active TSS	Esophagus	oesophagus
15	chr2:31439000-31442400	Enhancers	Fetal Heart	heart
16	chr2:31439200-31441000	Enhancers	Primary T cells from cord blood	blood
17	chr2:31439400-31442600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:31439400-31443000	Enhancers	Fetal Thymus	thymus
19	chr2:31439600-31440000	Enhancers	Spleen	Spleen

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