Variant report

Variant	rs60707425
Chromosome Location	chr3:135704884-135704885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:135701943..135704037-chr3:135704437..135706421,2	K562	blood:
2	chr3:135683932..135686182-chr3:135704363..135707092,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073711	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16843592	0.82[AFR][1000 genomes]
rs16843633	1.00[AFR][1000 genomes]
rs16843661	0.88[AFR][1000 genomes]
rs56736462	0.88[AFR][1000 genomes]
rs57374999	1.00[AFR][1000 genomes]
rs58096685	0.88[AFR][1000 genomes]
rs58503058	0.88[AFR][1000 genomes]
rs59720283	0.88[AFR][1000 genomes]
rs59985749	0.88[AFR][1000 genomes]
rs60165730	0.88[AFR][1000 genomes]
rs60393211	1.00[AFR][1000 genomes]
rs72981415	0.88[AFR][1000 genomes]
rs72981494	0.88[AFR][1000 genomes]
rs72983403	0.88[AFR][1000 genomes]
rs72983409	0.88[AFR][1000 genomes]
rs72983437	0.88[AFR][1000 genomes]
rs72983474	0.88[AFR][1000 genomes]
rs72983475	0.88[AFR][1000 genomes]
rs72983479	0.88[AFR][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	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135694000-135713600	Weak transcription	Fetal Lung	lung
2	chr3:135694000-135726600	Weak transcription	Esophagus	oesophagus
3	chr3:135694200-135707400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:135694200-135707400	Weak transcription	Gastric	stomach
5	chr3:135694200-135708800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:135694200-135709600	Weak transcription	Right Atrium	heart
7	chr3:135694200-135713400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:135699800-135709600	Weak transcription	Right Ventricle	heart
9	chr3:135700400-135708800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:135701600-135720600	Weak transcription	Ovary	ovary
11	chr3:135701800-135706600	Weak transcription	Aorta	Aorta
12	chr3:135701800-135707200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:135702000-135705200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:135702200-135706200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:135702200-135710200	Weak transcription	HSMMtube	muscle
16	chr3:135702600-135707800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:135702600-135708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:135702600-135709800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:135702600-135710600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:135702800-135706600	Weak transcription	HMEC	breast
21	chr3:135702800-135706600	Weak transcription	NH-A	brain
22	chr3:135703000-135706400	Weak transcription	Osteobl	bone
23	chr3:135703200-135706200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:135703200-135707600	Weak transcription	NHLF	lung
25	chr3:135703400-135705400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:135703400-135706600	Weak transcription	NHDF-Ad	bronchial
27	chr3:135703600-135705000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:135704200-135705400	Enhancers	Colon Smooth Muscle	Colon
29	chr3:135704600-135707200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:135704600-135709600	Weak transcription	Psoas Muscle	Psoas
31	chr3:135704600-135716400	Weak transcription	Brain Substantia Nigra	brain
32	chr3:135704800-135705200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:135704800-135705400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr3:135704800-135706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:135704800-135709800	Weak transcription	Rectal Smooth Muscle	rectum

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