Variant report

Variant	rs12130792
Chromosome Location	chr1:161993192-161993193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12119861	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12120969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12121431	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12125293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12126296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57311038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161979200-161993200	Weak transcription	Gastric	stomach
2	chr1:161991000-161993800	Weak transcription	Fetal Heart	heart
3	chr1:161991400-161994400	Active TSS	HSMM	muscle
4	chr1:161991600-161994400	Active TSS	NHDF-Ad	bronchial
5	chr1:161992000-161994200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:161992000-161994400	Active TSS	HSMMtube	muscle
7	chr1:161992400-161993200	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr1:161992400-161993200	Flanking Active TSS	Osteobl	bone
9	chr1:161992400-161993400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:161992400-161993400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:161992400-161993400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:161992400-161993600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr1:161992400-161993800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr1:161992400-161993800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:161992400-161994000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:161992400-161994400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:161992600-161993800	Enhancers	Fetal Brain Male	brain
18	chr1:161992600-161994200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:161992600-161994200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr1:161992600-161994200	Active TSS	Brain Anterior Caudate	brain
21	chr1:161992600-161994200	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr1:161992600-161994200	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:161992600-161994400	Active TSS	Ovary	ovary
24	chr1:161992600-161994600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:161992800-161993200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr1:161992800-161993200	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr1:161992800-161993200	Flanking Active TSS	NH-A	brain
28	chr1:161992800-161993400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:161992800-161993400	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr1:161992800-161993400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr1:161992800-161993400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr1:161992800-161994200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr1:161992800-161994200	Active TSS	Aorta	Aorta
34	chr1:161992800-161994200	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr1:161992800-161994400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:161993000-161993200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:161993000-161993200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:161993000-161993200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
39	chr1:161993000-161993200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:161993000-161993200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:161993000-161993200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr1:161993000-161993200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:161993000-161993200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:161993000-161993200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:161993000-161993200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr1:161993000-161993200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr1:161993000-161993200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:161993000-161993200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr1:161993000-161993200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr1:161993000-161993200	Active TSS	Primary T helper cells fromperipheralblood	blood

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