Variant report

Variant	rs12042810
Chromosome Location	chr1:120202112-120202113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:120202110-120202680	IMR90	lung:	n/a	n/a
2	MYC	chr1:120201951-120202551	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120201333..120204049-chr1:120254351..120256217,2	MCF-7	breast:
2	chr1:120188763..120191080-chr1:120201790..120203315,2	K562	blood:
3	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:
4	chr1:120187998..120191080-chr1:120201790..120203947,3	K562	blood:

No data

Variant related genes	Relation type
PHGDH	TF binding region
ENSG00000143067	Chromatin interaction
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10923884	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12025390	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12043284	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12045485	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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:28 , 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	chr1:120193600-120202400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:120197000-120202200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:120197800-120202200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:120198000-120202200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:120198200-120202200	Weak transcription	Liver	Liver
7	chr1:120198200-120202200	Weak transcription	Ovary	ovary
8	chr1:120198200-120202400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:120199000-120202200	Weak transcription	Fetal Heart	heart
10	chr1:120199000-120202200	Weak transcription	Placenta	Placenta
11	chr1:120199000-120202200	Weak transcription	Lung	lung
12	chr1:120199400-120204600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:120199600-120202200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:120199600-120202200	Weak transcription	GM12878-XiMat	blood
15	chr1:120200000-120202200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:120200000-120202200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:120200200-120202200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:120200200-120202200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:120200200-120202200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:120200400-120202200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:120201600-120203800	Enhancers	Fetal Lung	lung
22	chr1:120201800-120202200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:120202000-120202200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:120202000-120202600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:120202000-120203400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:120202000-120203600	Enhancers	Fetal Kidney	kidney
27	chr1:120202000-120203800	Enhancers	Fetal Stomach	stomach
28	chr1:120202000-120206000	Enhancers	Fetal Intestine Small	intestine

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