Variant report

Variant	rs35929436
Chromosome Location	chr7:124701498-124701499
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	chr7:124699558..124701618-chr7:125055753..125057701,2	K562	blood:
2	chr7:124701246..124703610-chr7:124820642..124822320,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1031955	0.86[ASN][1000 genomes]
rs11975363	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1383749	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1383750	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481338	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481339	0.86[ASN][1000 genomes]
rs2402763	0.86[ASN][1000 genomes]
rs2929320	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2929323	0.86[ASN][1000 genomes]
rs2949802	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2968867	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs585608	0.82[ASN][1000 genomes]
rs597279	0.82[ASN][1000 genomes]
rs616697	0.82[ASN][1000 genomes]
rs635682	0.82[ASN][1000 genomes]
rs637482	0.82[ASN][1000 genomes]
rs6466990	0.80[ASN][1000 genomes]
rs6466993	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs659987	0.82[ASN][1000 genomes]
rs662165	0.82[ASN][1000 genomes]
rs672965	0.82[ASN][1000 genomes]
rs676037	0.82[ASN][1000 genomes]
rs683707	0.82[ASN][1000 genomes]
rs7806548	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9691875	0.80[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35929436	RP11-3B12.4	cis	Artery Tibial	GTEx
rs35929436	RP11-3B12.1	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124699600-124701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:124699800-124702800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:124699800-124703400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:124700600-124702200	Enhancers	Brain Angular Gyrus	brain
5	chr7:124700600-124702800	Enhancers	HUVEC	blood vessel
6	chr7:124700600-124703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:124700800-124701600	Enhancers	Brain Anterior Caudate	brain
8	chr7:124700800-124701600	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:124700800-124701800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:124700800-124702200	Enhancers	Brain Hippocampus Middle	brain
11	chr7:124700800-124702200	Enhancers	Fetal Intestine Large	intestine
12	chr7:124700800-124702200	Enhancers	NH-A	brain
13	chr7:124700800-124702400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:124700800-124702400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:124700800-124702400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:124701000-124701800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:124701000-124702800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:124701000-124703000	Enhancers	Hela-S3	cervix
19	chr7:124701200-124703400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:124701400-124702000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:124701400-124702200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:124701400-124702200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:124701400-124702400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:124701400-124702600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:124701400-124702600	Enhancers	HUES64 Cell Line	embryonic stem cell

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