Variant report

Variant	rs2434304
Chromosome Location	chr5:79354892-79354893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79342559..79344595-chr5:79353378..79355370,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10474605	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1438735	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1438736	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1438737	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs166270	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2059794	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2118731	0.87[EUR][1000 genomes]
rs2241825	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249687	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249794	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2434277	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2434278	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2434280	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2434282	0.80[EUR][1000 genomes]
rs2434299	0.84[EUR][1000 genomes]
rs2434301	0.86[EUR][1000 genomes]
rs2434302	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434303	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434312	0.82[EUR][1000 genomes]
rs2434320	0.87[EUR][1000 genomes]
rs2438645	0.84[EUR][1000 genomes]
rs2438649	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451932	0.81[EUR][1000 genomes]
rs256442	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256443	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256445	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2913544	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2918422	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs364988	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs368287	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs368936	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380747	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs382746	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs384941	0.89[EUR][1000 genomes]
rs394947	0.89[EUR][1000 genomes]
rs397601	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs404375	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs405112	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs407314	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs411240	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs411943	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412379	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs426623	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs428279	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs432267	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861685	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs689879	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs690284	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690325	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs692979	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs693270	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv882223	chr5:79330559-79357117	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79338200-79363600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:79338200-79367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:79338400-79355200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:79340000-79363400	Weak transcription	Left Ventricle	heart
5	chr5:79344200-79355200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:79345200-79364200	Weak transcription	Right Ventricle	heart
7	chr5:79347800-79355600	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:79348200-79366400	Weak transcription	Brain Substantia Nigra	brain
9	chr5:79350600-79363200	Weak transcription	Psoas Muscle	Psoas
10	chr5:79351600-79379200	Weak transcription	Pancreas	Pancrea
11	chr5:79351800-79361800	Weak transcription	Primary T cells from cord blood	blood
12	chr5:79352000-79355600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:79352000-79361200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:79352000-79365200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:79352000-79365600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:79352000-79365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:79352200-79356600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:79352200-79359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:79352400-79378200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:79352600-79356800	Weak transcription	Fetal Heart	heart
21	chr5:79352800-79363400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:79353200-79365600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:79353400-79355000	Enhancers	Osteobl	bone
24	chr5:79353600-79363400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:79353600-79365600	Weak transcription	Fetal Intestine Small	intestine
26	chr5:79354000-79355600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:79354200-79359800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:79354600-79355000	Enhancers	Fetal Brain Male	brain
29	chr5:79354600-79356800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:79354600-79378400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:79354800-79356600	Weak transcription	NHDF-Ad	bronchial

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