Variant report

Variant	rs935380
Chromosome Location	chr2:47086982-47086983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47080558..47082163-chr2:47086057..47089027,2	K562	blood:
2	chr2:47085558..47087173-chr2:47093819..47096173,2	K562	blood:
3	chr2:47081928..47083948-chr2:47085603..47087171,2	MCF-7	breast:
4	chr2:47086468..47088123-chr2:47090106..47091660,2	K562	blood:

Variant related genes	Relation type
ENSG00000239332	Chromatin interaction
ENSG00000226548	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11125098	0.84[AMR][1000 genomes]
rs13422107	0.82[AMR][1000 genomes]
rs4953431	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4953434	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61542554	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72804479	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs875343	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47081200-47087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:47081400-47087200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:47081400-47087800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:47081400-47091000	Enhancers	NHDF-Ad	bronchial
6	chr2:47081600-47087800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr2:47082200-47089000	Weak transcription	Colonic Mucosa	Colon
8	chr2:47083200-47088600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:47084000-47088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:47084000-47088800	Weak transcription	Right Ventricle	heart
11	chr2:47084000-47093200	Weak transcription	Ovary	ovary
12	chr2:47084000-47093600	Weak transcription	Right Atrium	heart
13	chr2:47084200-47087200	Enhancers	Osteobl	bone
14	chr2:47084200-47088400	Weak transcription	Left Ventricle	heart
15	chr2:47084800-47087000	Enhancers	HSMM	muscle
16	chr2:47084800-47088200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:47085000-47087000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:47085000-47090400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:47085600-47087200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:47085800-47087200	Enhancers	NHLF	lung
21	chr2:47085800-47087600	Weak transcription	Fetal Lung	lung
22	chr2:47085800-47089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:47086000-47088600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:47086000-47091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:47086200-47087400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:47086200-47088800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:47086200-47089400	Weak transcription	A549	lung
28	chr2:47086400-47087200	Enhancers	Lung	lung
29	chr2:47086400-47088200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:47086400-47088400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:47086800-47087000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:47086800-47087000	Enhancers	Spleen	Spleen
33	chr2:47086800-47087600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:47086800-47090400	Weak transcription	HSMMtube	muscle

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