Variant report

Variant	rs17767298
Chromosome Location	chr12:66593241-66593242
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	chr12:66588124..66590296-chr12:66590579..66593345,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10506480	0.86[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs11465955	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11465970	0.93[EUR][1000 genomes]
rs1179917	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs17767286	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821777	0.86[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1882200	0.86[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2289134	0.86[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2293657	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3782347	0.86[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs4762087	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4762088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55715236	0.93[EUR][1000 genomes]
rs55913894	0.84[EUR][1000 genomes]
rs56156535	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56365678	0.86[EUR][1000 genomes]
rs61927088	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61927090	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7302556	0.86[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs7315220	0.83[EUR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats 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 miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17767298	TMBIM4	cis	parietal	SCAN
rs17767298	MDM1	cis	parietal	SCAN
rs17767298	TMBIM4	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66589400-66606000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:66589600-66623400	Weak transcription	Spleen	Spleen
4	chr12:66591000-66593400	Enhancers	Adipose Nuclei	Adipose
5	chr12:66591000-66593800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:66591400-66594000	Genic enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:66591400-66594400	Strong transcription	Primary hematopoietic stem cells	blood
8	chr12:66591400-66597000	Weak transcription	Stomach Mucosa	stomach
9	chr12:66591600-66593400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:66591600-66593800	Weak transcription	NHLF	lung
11	chr12:66592200-66598000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:66592200-66604400	Weak transcription	NHDF-Ad	bronchial
13	chr12:66592200-66606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:66592400-66593800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:66592400-66594000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:66592400-66594200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:66592400-66603400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:66593000-66593400	Enhancers	Aorta	Aorta
20	chr12:66593000-66594000	Weak transcription	Fetal Lung	lung
21	chr12:66593200-66593400	Enhancers	Colon Smooth Muscle	Colon
22	chr12:66593200-66593400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:66593200-66594000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:66593200-66594000	Weak transcription	Right Atrium	heart
25	chr12:66593200-66594200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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