Variant report

Variant	rs56329486
Chromosome Location	chr2:31441396-31441397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11887765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11887960	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11894727	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11902045	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12104508	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12105033	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12105603	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12105604	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1562020	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17010998	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17010999	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17011001	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1822498	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1867329	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2365210	0.89[AMR][1000 genomes]
rs2365212	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2365213	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2886305	0.89[AMR][1000 genomes]
rs4952056	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4952058	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4952061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6708447	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6711794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6731524	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750359	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7563977	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7564077	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7568661	0.84[AMR][1000 genomes]
rs7576637	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7595550	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7595609	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7595622	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7602817	0.86[AMR][1000 genomes];0.81[ASN][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:24 , 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	chr2:31439000-31442400	Enhancers	Fetal Heart	heart
10	chr2:31439400-31442600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:31439400-31443000	Enhancers	Fetal Thymus	thymus
12	chr2:31439800-31441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:31440000-31442000	Weak transcription	Spleen	Spleen
14	chr2:31440000-31442200	Weak transcription	Left Ventricle	heart
15	chr2:31440200-31442000	Enhancers	GM12878-XiMat	blood
16	chr2:31440400-31443400	Enhancers	Esophagus	oesophagus
17	chr2:31440800-31442200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:31441000-31442000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:31441000-31442400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:31441000-31443200	Enhancers	Stomach Mucosa	stomach
21	chr2:31441200-31442000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:31441200-31443000	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:31441200-31443800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:31441200-31449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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