Variant report

Variant	rs10843989
Chromosome Location	chr12:31799091-31799092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2203986	0.86[ASN][1000 genomes]
rs4931535	0.84[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10843989	REP15	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31783400-31803000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:31783400-31803000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:31789600-31803000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:31789800-31801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:31789800-31803000	Weak transcription	Adipose Nuclei	Adipose
6	chr12:31794800-31799800	Weak transcription	Fetal Kidney	kidney
7	chr12:31797000-31800000	Enhancers	Hela-S3	cervix
8	chr12:31797200-31799200	Enhancers	A549	lung
9	chr12:31797200-31800400	Enhancers	Ovary	ovary
10	chr12:31797400-31799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:31797400-31800600	Enhancers	Primary B cells from cord blood	blood
12	chr12:31797600-31799800	Weak transcription	NHEK	skin
13	chr12:31797600-31803000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:31798000-31799400	Weak transcription	Placenta	Placenta
15	chr12:31798000-31800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:31798000-31800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:31798200-31800000	Weak transcription	HSMMtube	muscle
18	chr12:31798200-31802200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:31798400-31799200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:31798400-31799200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:31798400-31800000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:31798400-31800200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:31798400-31800400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:31798400-31800600	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:31798400-31800600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:31798600-31799200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:31798600-31799400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:31798800-31799200	Enhancers	Brain Germinal Matrix	brain
29	chr12:31798800-31799400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:31798800-31800600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:31798800-31800600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:31798800-31803200	Weak transcription	HepG2	liver
33	chr12:31799000-31800800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:31799000-31803000	Weak transcription	Pancreas	Pancrea

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