Variant report

Variant	rs72981499
Chromosome Location	chr3:135742716-135742717
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	CEBPB	chr3:135742406-135742801	IMR90	lung:	n/a	chr3:135742558-135742575
2	FOS	chr3:135742554-135742754	MCF10A-Er-Src	breast:	n/a	chr3:135742642-135742650 chr3:135742643-135742650

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: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1403765	1.00[AFR][1000 genomes]
rs16843517	1.00[AFR][1000 genomes]
rs16843565	1.00[AFR][1000 genomes]
rs16843571	1.00[AFR][1000 genomes]
rs16843601	1.00[AFR][1000 genomes]
rs16843602	1.00[AFR][1000 genomes]
rs16843656	1.00[AFR][1000 genomes]
rs56848754	0.91[AFR][1000 genomes]
rs57507646	1.00[AFR][1000 genomes]
rs57524286	1.00[AFR][1000 genomes]
rs57539640	1.00[AFR][1000 genomes]
rs57578189	1.00[AFR][1000 genomes]
rs57681844	1.00[AFR][1000 genomes]
rs58136416	0.83[AFR][1000 genomes]
rs58362057	1.00[AFR][1000 genomes]
rs58619345	1.00[AFR][1000 genomes]
rs59899876	1.00[AFR][1000 genomes]
rs59985031	1.00[AFR][1000 genomes]
rs61216931	1.00[AFR][1000 genomes]
rs72977692	0.81[AFR][1000 genomes]
rs72977699	0.81[AFR][1000 genomes]
rs72977700	0.81[AFR][1000 genomes]
rs72979626	0.91[AFR][1000 genomes]
rs72979633	0.91[AFR][1000 genomes]
rs72979636	0.91[AFR][1000 genomes]
rs72979647	1.00[AFR][1000 genomes]
rs72979686	1.00[AFR][1000 genomes]
rs72979693	1.00[AFR][1000 genomes]
rs72979696	1.00[AFR][1000 genomes]
rs72979701	1.00[AFR][1000 genomes]
rs72981430	0.83[AFR][1000 genomes]
rs72981436	1.00[AFR][1000 genomes]
rs72981447	1.00[AFR][1000 genomes]
rs72981448	1.00[AFR][1000 genomes]
rs72981456	1.00[AFR][1000 genomes]
rs72983435	1.00[AFR][1000 genomes]
rs72983458	1.00[AFR][1000 genomes]
rs72983467	0.83[AFR][1000 genomes]
rs72983501	1.00[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135717200-135747000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:135718000-135753000	Weak transcription	Fetal Kidney	kidney
3	chr3:135719200-135746200	Weak transcription	Fetal Intestine Large	intestine
4	chr3:135721800-135763600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:135726200-135748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:135726400-135758400	Weak transcription	Lung	lung
7	chr3:135727200-135746600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:135727400-135760600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:135727800-135769400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:135728000-135748000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:135728200-135746400	Weak transcription	Ovary	ovary
12	chr3:135735800-135760600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:135737200-135743000	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:135737400-135747200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:135738000-135745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:135738000-135750000	Weak transcription	Brain Substantia Nigra	brain
17	chr3:135738000-135758400	Weak transcription	Gastric	stomach
18	chr3:135738000-135761200	Weak transcription	Fetal Brain Male	brain
19	chr3:135738000-135775800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:135738200-135746600	Weak transcription	Fetal Stomach	stomach
21	chr3:135738200-135749600	Weak transcription	Brain Angular Gyrus	brain
22	chr3:135738400-135746400	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:135738400-135746800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:135738400-135763600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:135738400-135763600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:135738800-135745600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:135738800-135746400	Weak transcription	Adipose Nuclei	Adipose
28	chr3:135738800-135746400	Weak transcription	Fetal Lung	lung
29	chr3:135739600-135742800	Enhancers	HMEC	breast
30	chr3:135739600-135745800	Weak transcription	NHLF	lung
31	chr3:135739800-135746000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:135739800-135767800	Weak transcription	NHDF-Ad	bronchial
33	chr3:135740000-135746400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:135740000-135746800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:135740800-135745200	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr3:135741000-135745200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr3:135741000-135763600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:135741400-135745200	Active TSS	Right Atrium	heart
39	chr3:135741600-135742800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:135741600-135743200	Enhancers	Colon Smooth Muscle	Colon
41	chr3:135741600-135743600	Active TSS	Fetal Muscle Trunk	muscle
42	chr3:135741600-135746000	Weak transcription	NH-A	brain
43	chr3:135741800-135742800	Active TSS	Left Ventricle	heart
44	chr3:135741800-135743600	Active TSS	Right Ventricle	heart
45	chr3:135741800-135744200	Active TSS	Fetal Heart	heart
46	chr3:135741800-135744200	Active TSS	Fetal Muscle Leg	muscle
47	chr3:135741800-135745800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:135741800-135746600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:135741800-135746600	Weak transcription	Pancreas	Pancrea
50	chr3:135741800-135748000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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