Variant report

Variant	rs12708434
Chromosome Location	chr15:31740559-31740560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11632836	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12101830	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1599081	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724946	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv903844	chr15:31736091-31781988	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31733400-31741000	Weak transcription	Spleen	Spleen
2	chr15:31733800-31741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:31734200-31740800	Weak transcription	Placenta	Placenta
4	chr15:31734200-31740800	Weak transcription	Stomach Mucosa	stomach
5	chr15:31734400-31740600	Weak transcription	Adipose Nuclei	Adipose
6	chr15:31734400-31740800	Weak transcription	Fetal Thymus	thymus
7	chr15:31734400-31750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:31734600-31740600	Weak transcription	Primary T cells from cord blood	blood
9	chr15:31734600-31741200	Weak transcription	Gastric	stomach
10	chr15:31735400-31740600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:31735400-31741000	Weak transcription	HSMMtube	muscle
12	chr15:31736600-31740600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:31736600-31741000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:31739400-31740600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:31739400-31741000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:31739600-31740600	Weak transcription	NHEK	skin
17	chr15:31740000-31741400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr15:31740000-31741400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:31740000-31742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:31740200-31740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:31740200-31740800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr15:31740200-31741200	Enhancers	Primary B cells from peripheral blood	blood
23	chr15:31740200-31741400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:31740200-31741400	Enhancers	GM12878-XiMat	blood
25	chr15:31740200-31742000	Enhancers	Primary hematopoietic stem cells	blood
26	chr15:31740200-31742000	Enhancers	HUVEC	blood vessel
27	chr15:31740400-31740800	Weak transcription	Esophagus	oesophagus
28	chr15:31740400-31741200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:31740400-31741200	Enhancers	Rectal Mucosa Donor 31	rectum

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