Variant report

Variant	rs12107252
Chromosome Location	chr3:48691316-48691317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48689444..48692588-chr3:48693029..48695522,3	MCF-7	breast:
2	chr3:48631571..48635730-chr3:48691196..48694379,3	K562	blood:

Variant related genes	Relation type
ENSG00000114270	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1003649	0.83[GIH][hapmap]
rs10470687	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs11706983	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs11708786	1.00[GIH][hapmap]
rs11713694	0.83[GIH][hapmap]
rs11719291	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs12107418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497850	0.82[YRI][hapmap]
rs12715429	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13060933	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs13063312	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13070798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13074318	0.83[GIH][hapmap]
rs13076269	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13091944	1.00[JPT][hapmap]
rs13096357	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13319651	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs13324119	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13324142	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13434258	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs17080289	0.80[CHD][hapmap];1.00[GIH][hapmap]
rs2006871	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2276850	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276852	0.94[ASW][hapmap];0.90[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286651	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286652	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2310996	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2310997	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28452701	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2854394	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs34037363	0.83[GIH][hapmap]
rs34096717	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34368826	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34638686	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35064573	1.00[GIH][hapmap];0.87[TSI][hapmap]
rs3733086	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3806694	1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3821875	0.81[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821876	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3969942	0.83[GIH][hapmap]
rs4858798	0.80[LWK][hapmap];0.82[YRI][hapmap]
rs4858828	0.80[LWK][hapmap];0.82[YRI][hapmap]
rs4858831	0.80[LWK][hapmap];0.82[YRI][hapmap]
rs57334642	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6768448	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6773261	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6781283	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs6788650	0.80[LWK][hapmap];0.82[YRI][hapmap]
rs6792156	0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs6792525	0.84[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs68042649	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6806059	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs73078349	0.81[EUR][1000 genomes]
rs740787	0.94[ASW][hapmap];0.90[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7428949	1.00[JPT][hapmap]
rs7620853	0.90[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7631574	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9809222	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9810549	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs9810991	0.83[GIH][hapmap]
rs9811318	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9812200	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812977	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9821797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9830581	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9836462	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9837687	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs9841602	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9843316	0.80[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9850102	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs9851771	0.83[GIH][hapmap]
rs9868809	0.81[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.85[EUR][1000 genomes]
rs9869698	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs9871180	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9873726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9875911	0.83[GIH][hapmap]
rs9878063	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9878950	0.83[GIH][hapmap];1.00[JPT][hapmap]
rs9881877	1.00[GIH][hapmap]
rs9882549	1.00[GIH][hapmap]
rs9882962	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12107252	WDR6	cis	Adipose Subcutaneous	GTEx
rs12107252	WDR6	cis	lymphoblastoid	seeQTL
rs12107252	WDR6	cis	lung	GTEx
rs12107252	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs12107252	WDR6	cis	Artery Tibial	GTEx
rs12107252	WDR6	cis	Nerve Tibial	GTEx
rs12107252	WDR6	cis	Esophagus Mucosa	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48673600-48693400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:48673800-48692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:48674000-48692600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:48674000-48693400	Weak transcription	Fetal Brain Male	brain
5	chr3:48674000-48693600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:48674200-48692600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:48674400-48692800	Weak transcription	Placenta	Placenta
8	chr3:48674400-48692800	Weak transcription	Right Ventricle	heart
9	chr3:48674400-48693600	Weak transcription	Gastric	stomach
10	chr3:48674800-48692600	Strong transcription	Fetal Brain Female	brain
11	chr3:48674800-48695600	Weak transcription	Hela-S3	cervix
12	chr3:48675000-48693600	Weak transcription	A549	lung
13	chr3:48675000-48694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:48675000-48697200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:48675200-48692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:48676600-48691800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:48677600-48692200	Strong transcription	Brain Germinal Matrix	brain
18	chr3:48680000-48695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:48684400-48692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:48684400-48692600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:48685200-48691800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:48687400-48692600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:48688000-48692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:48688200-48691400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:48688200-48692600	Weak transcription	Primary T cells from cord blood	blood
26	chr3:48688400-48692200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:48688600-48692600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr3:48688600-48692800	Weak transcription	Colonic Mucosa	Colon
29	chr3:48688800-48692800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:48689400-48693000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:48689600-48692600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:48689600-48692800	Weak transcription	Stomach Mucosa	stomach
33	chr3:48689800-48691400	Strong transcription	Brain Anterior Caudate	brain
34	chr3:48690000-48691400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:48690000-48691800	Strong transcription	Brain Hippocampus Middle	brain
36	chr3:48690000-48692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:48690200-48691400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:48690200-48691600	Strong transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:48690200-48691800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:48690200-48692600	Weak transcription	Fetal Intestine Small	intestine
41	chr3:48690200-48693200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:48690400-48691600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:48690600-48691400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:48690600-48691800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:48690600-48691800	Strong transcription	Brain Angular Gyrus	brain
46	chr3:48690600-48692000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:48690600-48692400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr3:48690600-48692600	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr3:48690600-48693600	Weak transcription	HepG2	liver
50	chr3:48691000-48691400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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