Variant report

Variant	rs1355707
Chromosome Location	chr12:26168472-26168473
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10771254	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10842652	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842654	0.88[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs11494759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16929857	0.87[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs1797943	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2643934	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2669554	0.86[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2669560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2669561	0.81[EUR][1000 genomes]
rs2669568	0.82[CHB][hapmap]
rs2729633	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2729653	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3803008	0.88[ASN][1000 genomes]
rs4963643	0.89[ASN][1000 genomes]
rs73079021	0.92[ASN][1000 genomes]
rs924049	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804876	0.88[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1355707	KLHDC5	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:26163600-26170400	Weak transcription	Pancreas	Pancrea
5	chr12:26164200-26170400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:26164400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:26164600-26170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:26164600-26170400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:26164600-26171600	Weak transcription	NH-A	brain
10	chr12:26164800-26168600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:26164800-26168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:26164800-26169000	Weak transcription	Fetal Lung	lung
13	chr12:26164800-26169200	Weak transcription	NHLF	lung
14	chr12:26164800-26170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:26164800-26170400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:26164800-26170400	Weak transcription	Aorta	Aorta
17	chr12:26164800-26170400	Weak transcription	Left Ventricle	heart
18	chr12:26164800-26170400	Weak transcription	Lung	lung
19	chr12:26164800-26170400	Weak transcription	Ovary	ovary
20	chr12:26164800-26170400	Weak transcription	Psoas Muscle	Psoas
21	chr12:26164800-26170400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:26164800-26170400	Weak transcription	Hela-S3	cervix
23	chr12:26164800-26170400	Weak transcription	HSMM	muscle
24	chr12:26164800-26170400	Weak transcription	NHEK	skin
25	chr12:26164800-26170600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:26164800-26173200	Weak transcription	HMEC	breast
27	chr12:26165000-26169200	Weak transcription	HUVEC	blood vessel
28	chr12:26165000-26169400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:26165000-26171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:26165200-26171400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:26166200-26170400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:26167200-26170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:26167200-26170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:26167200-26170400	Weak transcription	Brain Substantia Nigra	brain
35	chr12:26167200-26170400	Weak transcription	Gastric	stomach
36	chr12:26167200-26170400	Weak transcription	Right Atrium	heart
37	chr12:26167200-26174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:26167400-26168800	Weak transcription	NHDF-Ad	bronchial
39	chr12:26167400-26169000	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:26167400-26169200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:26167400-26169400	Weak transcription	Osteobl	bone
42	chr12:26167400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:26167400-26170400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:26167400-26170400	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:26167400-26170400	Weak transcription	Fetal Heart	heart
46	chr12:26167400-26170400	Weak transcription	Right Ventricle	heart
47	chr12:26167400-26170400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:26167400-26170400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:26167400-26171600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum

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