Variant report

Variant	rs73921595
Chromosome Location	chr2:31440958-31440959
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	EBF1	chr2:31440384-31440975	GM12878	blood:	n/a	chr2:31440629-31440640
2	IKZF1	chr2:31440314-31441079	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CAPN14	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57748606	1.00[AMR][1000 genomes]
rs73921566	1.00[AMR][1000 genomes]
rs73921567	1.00[AMR][1000 genomes]
rs73921575	1.00[AMR][1000 genomes]
rs73921580	1.00[AMR][1000 genomes]
rs73921581	1.00[AMR][1000 genomes]
rs73921590	1.00[AFR][1000 genomes]
rs73921591	1.00[AMR][1000 genomes]
rs73921592	1.00[AMR][1000 genomes]
rs73921597	1.00[AMR][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	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

No data

Chromatin state (count:25 , 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	chr2:31436400-31441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:31436400-31442200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:31436800-31441800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:31436800-31442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:31436800-31446200	Enhancers	Primary B cells from cord blood	blood
7	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:31437800-31441200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:31439000-31442400	Enhancers	Fetal Heart	heart
11	chr2:31439200-31441000	Enhancers	Primary T cells from cord blood	blood
12	chr2:31439400-31442600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:31439400-31443000	Enhancers	Fetal Thymus	thymus
14	chr2:31439800-31441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:31440000-31442000	Weak transcription	Spleen	Spleen
16	chr2:31440000-31442200	Weak transcription	Left Ventricle	heart
17	chr2:31440200-31441000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:31440200-31441000	Enhancers	NHEK	skin
19	chr2:31440200-31441200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:31440200-31442000	Enhancers	GM12878-XiMat	blood
21	chr2:31440400-31443400	Enhancers	Esophagus	oesophagus
22	chr2:31440600-31441000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:31440600-31441000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:31440600-31441000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:31440800-31442200	Weak transcription	Rectal Mucosa Donor 29	rectum

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