Variant report

Variant	rs4493374
Chromosome Location	chr3:135740798-135740799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr3:135740702-135741002	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr3:135740738-135740977	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:135740734-135740942	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:135683335..135686243-chr3:135740274..135744209,4	MCF-7	breast:

Variant related genes	Relation type
PPP2R3A	TF binding region
ENSG00000073711	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17197259	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9866627	1.00[ASN][1000 genomes]
rs9871437	1.00[ASN][1000 genomes]
rs9876792	1.00[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	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135707000-135741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:135717200-135747000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:135718000-135753000	Weak transcription	Fetal Kidney	kidney
4	chr3:135719000-135741600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:135719200-135746200	Weak transcription	Fetal Intestine Large	intestine
6	chr3:135721800-135763600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:135726200-135748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:135726400-135758400	Weak transcription	Lung	lung
9	chr3:135727200-135746600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:135727400-135760600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:135727800-135741600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:135727800-135741600	Weak transcription	Pancreas	Pancrea
13	chr3:135727800-135769400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:135728000-135748000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:135728200-135746400	Weak transcription	Ovary	ovary
16	chr3:135735600-135741600	Enhancers	Fetal Heart	heart
17	chr3:135735800-135760600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:135737200-135743000	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:135737400-135742200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:135737400-135747200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:135737600-135741000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:135738000-135741400	Weak transcription	Right Atrium	heart
23	chr3:135738000-135741600	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:135738000-135741600	Weak transcription	Left Ventricle	heart
25	chr3:135738000-135741600	Weak transcription	Psoas Muscle	Psoas
26	chr3:135738000-135745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:135738000-135750000	Weak transcription	Brain Substantia Nigra	brain
28	chr3:135738000-135758400	Weak transcription	Gastric	stomach
29	chr3:135738000-135761200	Weak transcription	Fetal Brain Male	brain
30	chr3:135738000-135775800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:135738200-135740800	Weak transcription	NHEK	skin
32	chr3:135738200-135741000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:135738200-135741000	Weak transcription	HSMMtube	muscle
34	chr3:135738200-135741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:135738200-135746600	Weak transcription	Fetal Stomach	stomach
36	chr3:135738200-135749600	Weak transcription	Brain Angular Gyrus	brain
37	chr3:135738400-135741600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:135738400-135746400	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:135738400-135746800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:135738400-135763600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:135738400-135763600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:135738600-135741600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:135738600-135741600	Weak transcription	Right Ventricle	heart
44	chr3:135738600-135741800	Enhancers	Osteobl	bone
45	chr3:135738800-135741600	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:135738800-135745600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:135738800-135746400	Weak transcription	Adipose Nuclei	Adipose
48	chr3:135738800-135746400	Weak transcription	Fetal Lung	lung
49	chr3:135739000-135740800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:135739000-135741400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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