Variant report

Variant	rs12031250
Chromosome Location	chr1:92061445-92061446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:92060640-92062707	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92060019..92063789-chr1:92065058..92070338,4	K562	blood:
2	chr1:92056853..92058906-chr1:92058997..92061738,3	K562	blood:
3	chr1:92038932..92042320-chr1:92059008..92062228,3	K562	blood:
4	chr1:92049054..92051542-chr1:92061265..92062961,2	K562	blood:
5	chr1:91999544..92001051-chr1:92060316..92062281,2	K562	blood:
6	chr1:91869482..91871646-chr1:92060794..92063314,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229067	TF binding region
ENSG00000162669	Chromatin interaction
ENSG00000229067	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1192405	0.83[ASN][1000 genomes]
rs12024768	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12025820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12028000	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12028689	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12028899	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12029135	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658244	0.83[ASN][1000 genomes]
rs61233503	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72712437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv946071	chr1:92060669-92067233	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92049600-92061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:92051800-92067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:92056000-92062200	Enhancers	Fetal Heart	heart
5	chr1:92057200-92070400	Weak transcription	Psoas Muscle	Psoas
6	chr1:92057600-92061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:92057600-92063400	Enhancers	K562	blood
8	chr1:92057800-92061600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:92058400-92061800	Enhancers	Placenta	Placenta
10	chr1:92059600-92066200	Weak transcription	Fetal Stomach	stomach
11	chr1:92059600-92067200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:92059800-92068800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:92060600-92061600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:92060600-92067200	Weak transcription	Lung	lung
15	chr1:92060600-92070200	Weak transcription	Right Ventricle	heart
16	chr1:92060800-92062600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:92060800-92066400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:92060800-92066400	Weak transcription	Right Atrium	heart
19	chr1:92060800-92067200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:92060800-92067600	Weak transcription	Left Ventricle	heart
21	chr1:92060800-92070200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:92061200-92063000	Enhancers	NHDF-Ad	bronchial
23	chr1:92061200-92070000	Weak transcription	Ovary	ovary
24	chr1:92061400-92062400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:92061400-92063200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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