Variant report

Variant	rs62169393
Chromosome Location	chr2:151838421-151838422
allele	A/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	MAFK	chr2:151838367-151838716	IMR90	lung:	n/a	chr2:151838535-151838551 chr2:151838539-151838549 chr2:151838536-151838550 chr2:151838540-151838549 chr2:151838533-151838553
2	CTCF	chr2:151838320-151838470	HCPEpiC	choroid plexus:	n/a	chr2:151838440-151838449

Variant related genes	Relation type
ENSG00000228064	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10176466	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10184706	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10185069	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187523	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10191747	0.87[EUR][1000 genomes]
rs10193245	0.87[EUR][1000 genomes]
rs10197086	0.87[EUR][1000 genomes]
rs10200264	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204953	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10210491	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10211364	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12465911	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13390448	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13396805	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404308	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404975	0.85[ASN][1000 genomes]
rs13412460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465235	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17179752	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2341926	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28701987	0.85[EUR][1000 genomes]
rs62168640	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864637	0.95[ASN][1000 genomes]
rs7589623	0.85[EUR][1000 genomes]
rs7603077	0.85[EUR][1000 genomes]
rs7609040	0.85[EUR][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	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv2754005	chr2:151753492-151840492	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:151834400-151840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151835000-151840000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:151835200-151839800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:151835400-151838600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:151837800-151840600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:151838000-151838800	Enhancers	Fetal Intestine Small	intestine
7	chr2:151838000-151839000	Enhancers	Colon Smooth Muscle	Colon
8	chr2:151838000-151840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:151838200-151838600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr2:151838200-151838800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:151838200-151838800	Enhancers	Fetal Intestine Large	intestine
12	chr2:151838200-151838800	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:151838200-151839000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:151838200-151840600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:151838200-151840600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:151838200-151841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:151838400-151838600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:151838400-151839000	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:151838400-151839000	Enhancers	Fetal Stomach	stomach
20	chr2:151838400-151839200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:151838400-151839200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:151838400-151839200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:151838400-151840400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:151838400-151840400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:151838400-151840600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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