Variant report

Variant	rs72806489
Chromosome Location	chr2:47516458-47516459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47402188..47404838-chr2:47515075..47518116,3	MCF-7	breast:
2	chr2:47511771..47513428-chr2:47515157..47517805,2	K562	blood:
3	chr2:47500386..47503208-chr2:47514636..47517593,2	K562	blood:
4	chr2:47499816..47503436-chr2:47513629..47516577,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10165172	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10165417	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168183	0.92[ASN][1000 genomes]
rs10173957	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176620	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181882	0.81[AMR][1000 genomes]
rs10189331	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191879	0.92[ASN][1000 genomes]
rs10201528	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204097	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204159	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204202	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383554	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13383788	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384033	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386635	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422346	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13422784	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28851944	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057658	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58176408	0.82[EUR][1000 genomes]
rs59937171	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806460	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72806465	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806485	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73926815	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 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	chr2:47502000-47517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47511600-47518400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:47512000-47522400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:47512200-47522400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:47512200-47523000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:47514200-47517600	Enhancers	NHDF-Ad	bronchial
7	chr2:47514200-47517600	Enhancers	Osteobl	bone
8	chr2:47514400-47517600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:47514400-47517600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:47514400-47517600	Enhancers	NH-A	brain
11	chr2:47514600-47517800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:47514800-47517400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:47514800-47517600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:47515000-47527400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:47515200-47517800	Enhancers	Placenta	Placenta
16	chr2:47515200-47523400	Enhancers	A549	lung
17	chr2:47515200-47528400	Weak transcription	HepG2	liver
18	chr2:47515400-47522400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:47515600-47517400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:47515600-47517400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:47515800-47516600	Enhancers	Hela-S3	cervix
22	chr2:47515800-47516600	Enhancers	HSMMtube	muscle
23	chr2:47516000-47516600	Enhancers	Fetal Intestine Small	intestine
24	chr2:47516000-47517800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:47516000-47517800	Enhancers	NHEK	skin
26	chr2:47516200-47516600	Enhancers	Adipose Nuclei	Adipose
27	chr2:47516200-47517400	Enhancers	HMEC	breast
28	chr2:47516400-47516600	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:47516400-47516800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:47516400-47517400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:47516400-47517800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:47516400-47517800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:47516400-47517800	Enhancers	NHLF	lung
34	chr2:47516400-47521000	Weak transcription	Stomach Mucosa	stomach

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