Variant report

Variant	rs1994998
Chromosome Location	chr12:26171717-26171718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1069974	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10732539	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10842649	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10842657	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167537	1.00[CEU][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1390323	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1495654	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1495656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1495658	1.00[CEU][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1994996	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2055181	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246596	0.86[EUR][1000 genomes]
rs2634179	1.00[CEU][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2643938	1.00[CEU][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2669555	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729636	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729661	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729662	0.85[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3803007	1.00[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706522	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706525	1.00[CEU][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706527	1.00[CEU][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706528	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310826	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7972703	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829983	1.00[CEU][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs829986	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs863807	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs864920	1.00[CEU][hapmap];0.84[YRI][hapmap];0.97[EUR][1000 genomes]
rs924050	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924051	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[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:62 , 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	chr12:26168800-26172600	Enhancers	NHDF-Ad	bronchial
5	chr12:26169000-26171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:26169200-26172600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:26169600-26173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:26169600-26182000	Weak transcription	NHLF	lung
10	chr12:26170000-26173200	Enhancers	Osteobl	bone
11	chr12:26170400-26172000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:26170400-26172400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:26170600-26174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:26170800-26171800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:26170800-26171800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:26170800-26171800	Weak transcription	Placenta	Placenta
17	chr12:26170800-26171800	Weak transcription	Psoas Muscle	Psoas
18	chr12:26170800-26172200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:26170800-26173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:26170800-26174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:26170800-26174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:26170800-26174200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:26170800-26174200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:26170800-26174200	Weak transcription	Brain Angular Gyrus	brain
25	chr12:26170800-26174400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:26170800-26174400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:26170800-26174400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:26170800-26174400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:26170800-26174400	Weak transcription	Fetal Heart	heart
30	chr12:26170800-26174400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:26170800-26174400	Weak transcription	Left Ventricle	heart
32	chr12:26170800-26174400	Weak transcription	Lung	lung
33	chr12:26170800-26174400	Weak transcription	Ovary	ovary
34	chr12:26170800-26174400	Weak transcription	Right Atrium	heart
35	chr12:26170800-26174400	Weak transcription	Right Ventricle	heart
36	chr12:26170800-26174600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:26170800-26174800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:26170800-26175000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:26170800-26181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:26170800-26182000	Weak transcription	Pancreas	Pancrea
41	chr12:26170800-26185600	Weak transcription	Aorta	Aorta
42	chr12:26171000-26173200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:26171000-26174200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:26171000-26174200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:26171000-26174200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:26171000-26174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:26171000-26174200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:26171000-26174200	Weak transcription	Brain Anterior Caudate	brain
49	chr12:26171000-26174400	Weak transcription	Brain Substantia Nigra	brain
50	chr12:26171000-26174400	Weak transcription	Stomach Smooth Muscle	stomach

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