Variant report

Variant	rs12095134
Chromosome Location	chr1:120194293-120194294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr1:120194061-120194530	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120192852..120195358-chr1:120195799..120197407,2	K562	blood:
2	chr1:120193408..120195827-chr1:120201607..120203462,2	K562	blood:
3	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:

Variant related genes	Relation type
ZNF697	TF binding region
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10923883	1.00[ASN][1000 genomes]
rs12087022	0.81[EUR][1000 genomes]
rs12091329	1.00[ASN][1000 genomes]
rs17024064	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024124	1.00[ASN][1000 genomes]
rs2363498	1.00[ASN][1000 genomes]
rs56187249	1.00[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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:120191600-120202200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:120191800-120196000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:120191800-120196200	Weak transcription	Ovary	ovary
4	chr1:120191800-120198600	Weak transcription	Placenta	Placenta
5	chr1:120192000-120195000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:120192000-120195600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:120192000-120195800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:120192000-120196000	Weak transcription	Liver	Liver
9	chr1:120192000-120196000	Weak transcription	NHLF	lung
10	chr1:120192000-120196200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:120192000-120196800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:120192000-120198000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:120192000-120198000	Weak transcription	Fetal Stomach	stomach
14	chr1:120193400-120194600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:120193400-120195200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:120193400-120195600	Enhancers	HMEC	breast
17	chr1:120193400-120195600	Enhancers	NHEK	skin
18	chr1:120193600-120194600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:120193600-120202400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:120193800-120195000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:120193800-120195400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:120193800-120195400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:120193800-120195400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:120194000-120194400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:120194000-120195200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:120194000-120196000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:120194000-120197800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:120194000-120198800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:120194000-120200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:120194200-120194600	Enhancers	GM12878-XiMat	blood
31	chr1:120194200-120194800	Enhancers	Fetal Intestine Small	intestine

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