Variant report

Variant	rs1874351
Chromosome Location	chr12:26172948-26172949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10431215	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10459081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10771249	0.90[EUR][1000 genomes]
rs10771250	0.88[CEU][hapmap];0.80[CHB][hapmap]
rs10771255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10842641	0.86[EUR][1000 genomes]
rs10842642	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10842645	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10842647	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10842648	0.89[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10842651	0.92[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10842655	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10842658	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10842659	0.85[ASN][1000 genomes]
rs11048363	0.92[CEU][hapmap];0.81[CHB][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11048364	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11048367	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11048370	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11048374	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12227480	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12369462	0.98[ASN][1000 genomes]
rs1513124	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1986802	0.84[ASN][1000 genomes]
rs1994995	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2251618	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2643927	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2643930	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2643933	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2729631	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs2729634	0.98[ASN][1000 genomes]
rs2729635	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs61247260	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6487522	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7132820	0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7136804	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7137379	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7138742	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7139241	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs7295585	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7299421	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7315752	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956992	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7963754	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964657	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7969486	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7971906	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7979763	0.93[CEU][hapmap];0.81[CHB][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26164800-26173200	Weak transcription	HMEC	breast
2	chr12:26167200-26174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:26169600-26173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:26169600-26182000	Weak transcription	NHLF	lung
7	chr12:26170000-26173200	Enhancers	Osteobl	bone
8	chr12:26170600-26174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:26170800-26173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:26170800-26174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:26170800-26174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:26170800-26174200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:26170800-26174200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:26170800-26174200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:26170800-26174400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:26170800-26174400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:26170800-26174400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:26170800-26174400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:26170800-26174400	Weak transcription	Fetal Heart	heart
20	chr12:26170800-26174400	Weak transcription	Fetal Intestine Small	intestine
21	chr12:26170800-26174400	Weak transcription	Left Ventricle	heart
22	chr12:26170800-26174400	Weak transcription	Lung	lung
23	chr12:26170800-26174400	Weak transcription	Ovary	ovary
24	chr12:26170800-26174400	Weak transcription	Right Atrium	heart
25	chr12:26170800-26174400	Weak transcription	Right Ventricle	heart
26	chr12:26170800-26174600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:26170800-26174800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:26170800-26175000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:26170800-26181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:26170800-26182000	Weak transcription	Pancreas	Pancrea
31	chr12:26170800-26185600	Weak transcription	Aorta	Aorta
32	chr12:26171000-26173200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:26171000-26174200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:26171000-26174200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:26171000-26174200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:26171000-26174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:26171000-26174200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:26171000-26174200	Weak transcription	Brain Anterior Caudate	brain
39	chr12:26171000-26174400	Weak transcription	Brain Substantia Nigra	brain
40	chr12:26171000-26174400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:26171000-26175400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:26171000-26182000	Weak transcription	HUVEC	blood vessel
43	chr12:26171000-26183800	Weak transcription	Hela-S3	cervix
44	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:26171200-26174200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:26172000-26174200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:26172000-26174200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:26172000-26182000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:26172200-26180200	Weak transcription	NH-A	brain
50	chr12:26172200-26180400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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