Variant report

Variant	rs60284189
Chromosome Location	chr2:72973580-72973581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72971179..72973717-chr2:72974748..72977332,2	K562	blood:
2	chr2:72973191..72975509-chr2:72979303..72982247,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10180259	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496187	0.95[AFR][1000 genomes]
rs11126378	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11126382	0.95[AFR][1000 genomes]
rs11126386	0.95[AFR][1000 genomes]
rs11689339	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886503	0.86[AFR][1000 genomes]
rs12614041	0.88[AFR][1000 genomes]
rs12615875	0.88[AFR][1000 genomes]
rs12619068	0.94[AFR][1000 genomes]
rs12619565	0.94[AFR][1000 genomes]
rs1562361	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008360	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008369	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008371	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876488	0.94[AFR][1000 genomes]
rs2068410	0.92[AFR][1000 genomes]
rs4597553	0.95[AFR][1000 genomes]
rs4852896	0.87[AFR][1000 genomes]
rs55642420	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55802296	0.85[AFR][1000 genomes]
rs56058174	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56181835	0.86[AFR][1000 genomes]
rs58890506	0.96[AFR][1000 genomes]
rs59216875	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60314340	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60584321	0.87[AFR][1000 genomes]
rs61619102	0.96[AFR][1000 genomes]
rs61736520	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66469454	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66509842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794803	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713143	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716335	0.95[AFR][1000 genomes]
rs6720889	0.95[EUR][1000 genomes]
rs6736649	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754072	1.00[ASN][1000 genomes]
rs6761253	0.94[AFR][1000 genomes]
rs67926386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67927720	0.92[AFR][1000 genomes]
rs72846963	0.86[EUR][1000 genomes]
rs7567893	0.86[AFR][1000 genomes]
rs7586886	0.90[AFR][1000 genomes]
rs7593084	0.95[AFR][1000 genomes]
rs7607226	0.95[AFR][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	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr2:72905800-72984400	Weak transcription	Aorta	Aorta
2	chr2:72922400-72976200	Weak transcription	Psoas Muscle	Psoas
3	chr2:72923000-73008600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:72937200-72974200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:72937800-72978400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:72938200-72987800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:72943600-72978800	Weak transcription	Primary T cells from cord blood	blood
8	chr2:72945600-72977800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:72946400-72974600	Weak transcription	Brain Substantia Nigra	brain
10	chr2:72946800-72980200	Weak transcription	Left Ventricle	heart
11	chr2:72950000-72982400	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:72951200-72974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:72952800-72975000	Weak transcription	Ovary	ovary
14	chr2:72958600-72975400	Weak transcription	Brain Anterior Caudate	brain
15	chr2:72961200-72976400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:72966200-72975600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:72968600-72980000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:72968800-72975800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:72969600-72975600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:72971200-72976000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:72971200-72977200	Weak transcription	Stomach Mucosa	stomach
22	chr2:72971600-72974400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:72971800-72974600	Weak transcription	Fetal Lung	lung
24	chr2:72971800-72982800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:72972200-72980400	Weak transcription	Right Ventricle	heart
26	chr2:72972800-72982600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:72973000-72973800	Enhancers	A549	lung
28	chr2:72973000-72974800	Weak transcription	Brain Angular Gyrus	brain
29	chr2:72973000-72976000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:72973000-72982200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:72973000-72982600	Weak transcription	Hela-S3	cervix
32	chr2:72973200-72974600	Weak transcription	Fetal Heart	heart
33	chr2:72973200-72977400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:72973400-72974400	Weak transcription	Brain Cingulate Gyrus	brain

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