Variant report

Variant	rs34943415
Chromosome Location	chr8:124923909-124923910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124915045..124918415-chr8:124921775..124925187,3	MCF-7	breast:
2	chr8:124843791..124846042-chr8:124921858..124924618,2	MCF-7	breast:
3	chr8:124923270..124925318-chr8:125461357..125464134,2	MCF-7	breast:
4	chr8:124918718..124920943-chr8:124922678..124925068,2	MCF-7	breast:
5	chr8:124908341..124910827-chr8:124923063..124925979,2	K562	blood:
6	chr8:124828216..124830191-chr8:124923748..124926066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183665	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11987138	0.92[ASN][1000 genomes]
rs11993828	0.82[EUR][1000 genomes]
rs13252473	0.98[EUR][1000 genomes]
rs13260693	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13267281	0.81[EUR][1000 genomes]
rs13277597	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13280610	0.95[EUR][1000 genomes]
rs16893054	0.92[ASN][1000 genomes]
rs16899008	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16899027	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899029	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899037	0.92[ASN][1000 genomes]
rs16899040	0.90[ASN][1000 genomes]
rs16899044	0.92[ASN][1000 genomes]
rs16899047	0.92[ASN][1000 genomes]
rs34512633	0.95[EUR][1000 genomes]
rs34895349	0.84[ASN][1000 genomes]
rs35367669	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35444607	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4285467	0.81[EUR][1000 genomes]
rs4285468	0.81[EUR][1000 genomes]
rs4355755	0.91[ASN][1000 genomes]
rs4472497	0.82[EUR][1000 genomes]
rs4478556	0.81[EUR][1000 genomes]
rs4509302	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4537289	0.81[EUR][1000 genomes]
rs4587311	0.81[EUR][1000 genomes]
rs4596635	0.92[ASN][1000 genomes]
rs4870873	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870874	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870875	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870876	0.92[ASN][1000 genomes]
rs4870879	0.81[EUR][1000 genomes]
rs4871417	0.98[EUR][1000 genomes]
rs4871421	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871423	0.92[ASN][1000 genomes]
rs4871424	0.92[ASN][1000 genomes]
rs4871425	0.92[ASN][1000 genomes]
rs4871426	0.92[ASN][1000 genomes]
rs55834043	0.92[ASN][1000 genomes]
rs66846856	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67648121	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7005131	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs746745	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs746746	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs746747	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7821233	0.92[ASN][1000 genomes]
rs7822699	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7837892	0.92[ASN][1000 genomes]
rs7839570	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124922800-124925200	Enhancers	Stomach Mucosa	stomach
2	chr8:124922800-124925800	Enhancers	Fetal Intestine Large	intestine
3	chr8:124923000-124927000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:124923200-124925000	Enhancers	Fetal Intestine Small	intestine
5	chr8:124923200-124925400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124923600-124924200	Enhancers	Adipose Nuclei	Adipose
7	chr8:124923600-124924400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:124923600-124924600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:124923600-124924800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:124923600-124925200	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:124923600-124926800	Enhancers	HSMMtube	muscle
12	chr8:124923800-124924000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:124923800-124924200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:124923800-124924400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:124923800-124924400	Enhancers	HSMM	muscle

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