Variant report

Variant	rs13390845
Chromosome Location	chr2:39004021-39004022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38974982..38979904-chr2:39002191..39014206,31	MCF-7	breast:
2	chr2:38975156..38979928-chr2:39002986..39007194,11	MCF-7	breast:
3	chr2:38975148..38982473-chr2:39000165..39007764,21	K562	blood:
4	chr2:38976218..38980921-chr2:39003670..39007764,15	K562	blood:
5	chr2:38983494..38986054-chr2:39002724..39005182,2	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10168028	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10196452	0.88[AFR][1000 genomes]
rs10200935	1.00[ASN][1000 genomes]
rs10203173	1.00[ASN][1000 genomes]
rs13393938	1.00[ASN][1000 genomes]
rs13412656	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13418902	1.00[ASN][1000 genomes]
rs13419028	1.00[ASN][1000 genomes]
rs13425948	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1541877	1.00[ASN][1000 genomes]
rs17023076	1.00[ASN][1000 genomes]
rs1897327	1.00[ASN][1000 genomes]
rs2888570	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3099969	1.00[ASN][1000 genomes]
rs3108662	0.82[AFR][1000 genomes]
rs3112187	1.00[ASN][1000 genomes]
rs3112190	1.00[ASN][1000 genomes]
rs6753616	1.00[ASN][1000 genomes]
rs6760965	1.00[ASN][1000 genomes]
rs72797312	0.85[AFR][1000 genomes]
rs72797353	1.00[ASN][1000 genomes]
rs72797362	1.00[ASN][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1014616	chr2:38985472-39022893	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38979200-39005000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:38994600-39004600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:38999400-39004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:38999400-39004600	Weak transcription	A549	lung
5	chr2:39000000-39004800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:39002600-39004600	Weak transcription	K562	blood
7	chr2:39003600-39004200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:39003600-39004200	Enhancers	Placenta	Placenta
9	chr2:39003800-39004800	Enhancers	HepG2	liver

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