Variant report

Variant	rs1181334
Chromosome Location	chr12:12367588-12367589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12360154..12361666-chr12:12367455..12370218,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10466846	0.86[AFR][1000 genomes]
rs10772533	0.80[CEU][hapmap]
rs11054736	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054738	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054741	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611108	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314349	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs12372237	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817910	0.82[EUR][1000 genomes]
rs12820350	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12823867	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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160525	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs2302685	0.80[CEU][hapmap];0.82[CHD][hapmap];0.85[TSI][hapmap]
rs34201398	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35172905	0.81[EUR][1000 genomes]
rs56084505	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61920856	0.92[ASN][1000 genomes]
rs71457140	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980903	0.80[CEU][hapmap];0.82[CHD][hapmap];0.85[TSI][hapmap]

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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1181334	LRP6	cis	parietal	SCAN
rs1181334	HTR7P1	cis	parietal	SCAN
rs1181334	PRH1	cis	parietal	SCAN
rs1181334	AICDA	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12315400-12371600	Weak transcription	Lung	lung
2	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
4	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
5	chr12:12344000-12367800	Weak transcription	NHLF	lung
6	chr12:12344200-12367800	Weak transcription	NH-A	brain
7	chr12:12344200-12377000	Weak transcription	NHDF-Ad	bronchial
8	chr12:12347600-12367800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:12349000-12367600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:12352600-12367600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:12354600-12367800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:12354800-12370400	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:12355000-12367800	Weak transcription	Gastric	stomach
14	chr12:12355400-12367600	Weak transcription	Osteobl	bone
15	chr12:12355400-12369400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:12355600-12367600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:12355600-12367600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:12355600-12367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:12355600-12367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:12355600-12367800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:12355600-12369800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:12355800-12367600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:12355800-12367800	Weak transcription	Primary T cells from cord blood	blood
24	chr12:12355800-12374200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:12356000-12367600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:12356000-12368800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:12356000-12369000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:12356000-12370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:12356400-12367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:12356400-12367600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:12360200-12367800	Weak transcription	Brain Anterior Caudate	brain
32	chr12:12360400-12367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:12360400-12368000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:12360800-12369000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:12360800-12374600	Weak transcription	Ovary	ovary
36	chr12:12361000-12369200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:12362200-12370000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:12362400-12367600	Weak transcription	Brain Angular Gyrus	brain
39	chr12:12364200-12367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:12364200-12367800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:12364400-12367800	Weak transcription	Psoas Muscle	Psoas
42	chr12:12364600-12367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:12364600-12370000	Weak transcription	GM12878-XiMat	blood
44	chr12:12366000-12369000	Weak transcription	Liver	Liver
45	chr12:12366400-12369200	Flanking Active TSS	A549	lung
46	chr12:12366600-12368200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:12366800-12368000	Weak transcription	HSMM	muscle
48	chr12:12367000-12368000	Enhancers	Brain Hippocampus Middle	brain
49	chr12:12367000-12368600	Enhancers	HUVEC	blood vessel
50	chr12:12367200-12367600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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