Variant report

Variant	rs34518530
Chromosome Location	chr3:150105674-150105675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150103838..150106691-chr3:150117880..150119518,2	MCF-7	breast:
2	chr3:150105305..150107998-chr3:150123098..150125972,3	K562	blood:
3	chr3:150101451..150104370-chr3:150105337..150109927,7	K562	blood:
4	chr3:150105059..150107937-chr3:150115799..150117722,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11706784	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11719654	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12054166	0.92[ASN][1000 genomes]
rs13069723	0.84[ASN][1000 genomes]
rs13092207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13092341	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16862648	0.84[ASN][1000 genomes]
rs2068659	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs33988810	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34192407	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34384576	0.85[ASN][1000 genomes]
rs34616287	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34991086	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35704634	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35725711	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35982655	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56040746	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62269065	0.84[ASN][1000 genomes]
rs6763024	0.81[ASN][1000 genomes]
rs9682043	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150090800-150107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:150090800-150108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:150090800-150111000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:150090800-150111000	Weak transcription	NHEK	skin
6	chr3:150094600-150106200	Weak transcription	HSMM	muscle
7	chr3:150094600-150108800	Weak transcription	NHLF	lung
8	chr3:150094800-150108200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:150096200-150108400	Weak transcription	A549	lung
10	chr3:150097800-150111200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:150102800-150111400	Weak transcription	Fetal Intestine Large	intestine
12	chr3:150102800-150118200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:150103200-150106800	Weak transcription	Fetal Heart	heart
14	chr3:150103600-150106800	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:150103600-150112200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:150103800-150105800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:150103800-150106200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:150103800-150107400	Weak transcription	Thymus	Thymus
19	chr3:150103800-150107600	Weak transcription	Hela-S3	cervix
20	chr3:150103800-150107800	Weak transcription	Primary T cells from cord blood	blood
21	chr3:150103800-150108000	Weak transcription	Fetal Thymus	thymus
22	chr3:150103800-150108200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:150103800-150108800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:150103800-150109000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:150103800-150109600	Weak transcription	K562	blood
26	chr3:150105400-150108800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:150105600-150107400	Weak transcription	GM12878-XiMat	blood
28	chr3:150105600-150107600	Enhancers	Muscle Satellite Cultured Cells	--

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