Variant report

Variant	rs9389148
Chromosome Location	chr6:134516112-134516113
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:134495995..134497860-chr6:134516059..134518356,3	K562	blood:
2	chr6:134514437..134516552-chr6:134517731..134520415,2	K562	blood:
3	chr6:134496079..134499053-chr6:134513924..134516840,3	K562	blood:
4	chr6:134495315..134497270-chr6:134514850..134516385,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118515	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1628660	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1743958	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1743959	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1763528	1.00[YRI][hapmap]
rs6920460	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373085	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[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];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv492292	chr6:134464255-135028540	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026369	chr6:134468470-135122264	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS 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 target site	81 gene(s)	inside rSNPs	diseases
3	nsv538444	chr6:134468470-135122264	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	nsv1018677	chr6:134512542-134638259	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv538445	chr6:134512542-134638259	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1023931	chr6:134512542-134668702	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv538446	chr6:134512542-134668702	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9389148	RPS12	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134499800-134523200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:134505200-134516400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:134506600-134522800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:134508000-134518000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:134509000-134537800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:134509200-134516400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:134509200-134516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:134509200-134520000	Weak transcription	Pancreas	Pancrea
9	chr6:134509400-134518000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:134509600-134516400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:134511600-134522800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:134512600-134517600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:134512600-134521000	Weak transcription	Primary T cells from cord blood	blood
14	chr6:134512800-134516200	Weak transcription	Fetal Heart	heart
15	chr6:134513400-134520200	Enhancers	HepG2	liver
16	chr6:134513800-134516200	Enhancers	K562	blood
17	chr6:134514000-134521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:134514400-134517000	Enhancers	Brain Hippocampus Middle	brain
19	chr6:134514600-134517000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr6:134514800-134521000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:134514800-134521200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:134515000-134516200	Enhancers	Fetal Brain Male	brain
23	chr6:134515000-134516600	Enhancers	Aorta	Aorta
24	chr6:134515200-134516400	Weak transcription	Brain Angular Gyrus	brain
25	chr6:134515400-134516200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:134515400-134516400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:134515400-134516400	Weak transcription	Brain Substantia Nigra	brain
28	chr6:134515400-134516400	Weak transcription	A549	lung
29	chr6:134515400-134516600	Weak transcription	Brain Anterior Caudate	brain
30	chr6:134515400-134516600	Enhancers	Fetal Muscle Leg	muscle
31	chr6:134515400-134517400	Enhancers	Fetal Intestine Large	intestine
32	chr6:134515600-134516400	Weak transcription	Ovary	ovary
33	chr6:134515800-134516400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:134515800-134516400	Enhancers	Osteobl	bone
35	chr6:134516000-134516400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:134516000-134517000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:134516000-134517000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:134516000-134517200	Weak transcription	Fetal Stomach	stomach

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