Variant report

Variant	rs56767805
Chromosome Location	chr2:39172018-39172019
allele	-/GTGT/TGTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39101787..39104006-chr2:39171914..39173812,2	MCF-7	breast:
2	chr2:39133216..39135216-chr2:39171193..39172696,2	MCF-7	breast:
3	chr2:39163314..39166525-chr2:39171929..39175793,3	K562	blood:

Variant related genes	Relation type
ENSG00000188010	Chromatin interaction
ENSG00000163214	Chromatin interaction
ENSG00000265905	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2599074	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs368451	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs408686	0.89[ASN][1000 genomes]
rs441869	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39145800-39172800	Weak transcription	Lung	lung
3	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
5	chr2:39155800-39174800	Weak transcription	Fetal Lung	lung
6	chr2:39156800-39172800	Weak transcription	Adipose Nuclei	Adipose
7	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
8	chr2:39161400-39172400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:39163200-39174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:39163200-39176000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:39163800-39183600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:39165000-39172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:39165600-39174600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:39166400-39172600	Weak transcription	Fetal Stomach	stomach
15	chr2:39170200-39173200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:39170400-39172800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:39170400-39173200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:39170400-39175600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:39170600-39172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:39170600-39173400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:39171000-39172200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:39171200-39175400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:39171400-39172600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:39171400-39172600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:39171400-39174200	Weak transcription	HepG2	liver
26	chr2:39171600-39172400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:39171600-39174400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:39171600-39176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:39171800-39172200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:39171800-39172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:39171800-39173400	Enhancers	Ovary	ovary
32	chr2:39171800-39174600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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