Variant report

Variant	rs72810317
Chromosome Location	chr2:58264167-58264168
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	chr2:58247203..58248924-chr2:58262338..58265214,2	MCF-7	breast:
2	chr2:58263006..58264985-chr2:58266495..58268240,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10188390	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210198	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10496086	0.93[EUR][1000 genomes]
rs10496087	0.93[EUR][1000 genomes]
rs1078191	0.89[EUR][1000 genomes]
rs11898024	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12465171	0.94[EUR][1000 genomes]
rs12467842	0.92[EUR][1000 genomes]
rs12469522	0.85[EUR][1000 genomes]
rs12470851	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12471043	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12473840	0.85[EUR][1000 genomes]
rs12478718	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13386389	0.88[EUR][1000 genomes]
rs1371212	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1401101	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1518403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17049299	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17049308	0.95[ASN][1000 genomes]
rs17049312	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17049314	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17049316	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17049321	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17830749	0.98[EUR][1000 genomes]
rs2118897	0.93[EUR][1000 genomes]
rs34191187	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35876471	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3771203	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55723561	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55856965	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61548822	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6545679	0.81[ASN][1000 genomes]
rs6732965	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67484511	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808498	0.84[ASN][1000 genomes]
rs72808501	0.84[ASN][1000 genomes]
rs72810305	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72810306	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72810307	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810308	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72810316	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72810318	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810320	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72810323	0.97[EUR][1000 genomes]
rs72810325	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72810332	0.88[EUR][1000 genomes]
rs72810334	0.89[EUR][1000 genomes]
rs72810337	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs728574	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs968850	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58251400-58272000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:58255600-58267600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:58256600-58271800	Weak transcription	Left Ventricle	heart
4	chr2:58256800-58272800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:58256800-58273000	Weak transcription	Pancreas	Pancrea
6	chr2:58258200-58271800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:58258400-58273000	Weak transcription	Liver	Liver
8	chr2:58258600-58272000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:58258800-58273000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:58259400-58269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:58259800-58264200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:58260000-58272800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:58260200-58271800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:58260400-58273400	Weak transcription	Ovary	ovary
15	chr2:58260600-58264400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:58262200-58273000	Weak transcription	Psoas Muscle	Psoas
17	chr2:58263000-58265200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:58263000-58265800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:58263000-58272800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:58263800-58265600	ZNF genes & repeats	GM12878-XiMat	blood

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