Variant report

Variant	rs12332692
Chromosome Location	chr5:112021979-112021980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112018949..112022294-chr5:112089786..112092475,3	MCF-7	breast:
2	chr5:112017960..112020508-chr5:112020777..112023084,3	K562	blood:
3	chr5:112018915..112020508-chr5:112020831..112023084,2	K562	blood:
4	chr5:112018990..112022293-chr5:112024063..112027716,5	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10051624	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10071425	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10072068	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10075281	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10075323	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10075377	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10213844	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10463642	0.98[ASN][1000 genomes]
rs10477483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241182	0.87[ASN][1000 genomes]
rs11241183	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11241185	0.83[EUR][1000 genomes]
rs11749632	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11749701	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12513787	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12518091	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12658609	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12719151	0.83[EUR][1000 genomes]
rs13156251	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441367	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1530256	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17285505	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866924	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1968557	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974786	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2019720	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2099810	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2431239	0.83[EUR][1000 genomes]
rs2431512	0.83[EUR][1000 genomes]
rs2439589	0.83[EUR][1000 genomes]
rs2546117	0.83[EUR][1000 genomes]
rs2707765	0.82[EUR][1000 genomes]
rs28373740	0.81[AMR][1000 genomes]
rs28578275	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2901844	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35414976	0.83[EUR][1000 genomes]
rs414098	0.80[EUR][1000 genomes]
rs458906	0.81[EUR][1000 genomes]
rs467033	0.82[EUR][1000 genomes]
rs4705486	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4705559	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705573	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705608	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4705610	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705624	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4705815	0.85[EUR][1000 genomes]
rs4705816	0.85[EUR][1000 genomes]
rs6594646	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6862050	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6864688	0.83[EUR][1000 genomes]
rs6879057	0.82[EUR][1000 genomes]
rs6893949	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7704618	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7727738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326863	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs953916	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9647582	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9647583	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs971517	0.86[EUR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112016400-112022600	Enhancers	NHDF-Ad	bronchial
2	chr5:112018800-112024200	Weak transcription	K562	blood
3	chr5:112019600-112022000	Enhancers	Ovary	ovary
4	chr5:112019600-112022200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:112019600-112022600	Enhancers	Fetal Heart	heart
6	chr5:112019600-112022600	Enhancers	NHLF	lung
7	chr5:112020000-112022200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:112020200-112022200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:112020200-112022600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:112020400-112024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112020600-112023200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:112020600-112024200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:112020800-112022000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:112020800-112022200	Enhancers	Stomach Smooth Muscle	stomach
15	chr5:112020800-112022400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:112020800-112022400	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:112020800-112022600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112020800-112022600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:112020800-112025000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:112021000-112022400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:112021000-112023400	Enhancers	HSMMtube	muscle
22	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:112021000-112026600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:112021200-112022600	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:112021200-112023000	Weak transcription	Brain Germinal Matrix	brain
26	chr5:112021600-112022000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:112021600-112022400	Enhancers	Rectal Smooth Muscle	rectum
28	chr5:112021600-112023400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:112021800-112022000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:112021800-112022000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:112021800-112022000	Enhancers	Brain Anterior Caudate	brain
32	chr5:112021800-112022000	Enhancers	Psoas Muscle	Psoas
33	chr5:112021800-112030600	Weak transcription	Osteobl	bone

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