Variant report

Variant	rs12731784
Chromosome Location	chr1:98568394-98568395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11587636	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12724641	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12734197	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12734505	0.85[EUR][1000 genomes]
rs12737713	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1352253	0.80[AMR][1000 genomes]
rs1473475	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473476	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1487296	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1487299	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1487308	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1507061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117845	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2893391	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs723702	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs994478	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv432531	chr1:98524979-98604179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv823631	chr1:98554257-98687985	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv462583	chr1:98554409-98645213	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546875	chr1:98554409-98645213	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98549400-98569400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:98553200-98569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:98560600-98569400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:98562400-98569600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:98566400-98568400	Enhancers	HUVEC	blood vessel
6	chr1:98566400-98569600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:98566400-98570800	Enhancers	Fetal Brain Female	brain
8	chr1:98567600-98568800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:98567800-98568400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:98567800-98568400	Enhancers	Fetal Brain Male	brain
11	chr1:98567800-98568400	Enhancers	HSMM	muscle
12	chr1:98567800-98568600	Enhancers	Brain Germinal Matrix	brain
13	chr1:98567800-98568600	Enhancers	A549	lung
14	chr1:98567800-98568600	Enhancers	NH-A	brain
15	chr1:98567800-98569000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:98567800-98569200	Enhancers	NHDF-Ad	bronchial
17	chr1:98567800-98569800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:98567800-98569800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:98567800-98570400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:98567800-98570600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:98567800-98570800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:98568000-98568600	Enhancers	Hela-S3	cervix
23	chr1:98568000-98569200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:98568000-98569200	Weak transcription	Osteobl	bone
25	chr1:98568200-98568400	Enhancers	HMEC	breast
26	chr1:98568200-98569200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:98568200-98569200	Weak transcription	NHLF	lung
28	chr1:98568200-98569400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:98568200-98569400	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:98568200-98569600	Weak transcription	NHEK	skin
31	chr1:98568200-98569800	Weak transcription	Fetal Stomach	stomach

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