Variant report

Variant	rs13395423
Chromosome Location	chr2:168195649-168195650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10166605	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10191894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200054	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613845	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12618608	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13384317	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13385369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385879	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13428468	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13432607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523879	0.86[AFR][1000 genomes]
rs3749002	1.00[EUR][1000 genomes]
rs57270001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58721716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59899923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60205651	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61733879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012059	1.00[EUR][1000 genomes]
rs73012062	1.00[EUR][1000 genomes]
rs73012070	1.00[EUR][1000 genomes]
rs73012073	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73012080	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73012100	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73013905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015840	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73015867	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73015869	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015872	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73015882	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73017743	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73017746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73017753	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73017755	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73017764	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73029722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73029735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73029741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73029744	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1008704	chr2:168153525-168196371	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168193600-168199200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:168193600-168199200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:168193600-168200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:168194000-168199200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:168194000-168199200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:168194000-168201600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:168194200-168199200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:168194200-168199400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:168194200-168211600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:168194400-168199200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:168194400-168199200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:168194400-168199400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:168194400-168199600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:168194600-168195800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:168194600-168199200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:168194800-168199000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:168195000-168199200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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