Variant report

Variant	rs72981447
Chromosome Location	chr3:135717352-135717353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:135709365..135711424-chr3:135715177..135717515,2	K562	blood:
2	chr3:135716831..135719194-chr3:135738292..135740205,2	MCF-7	breast:

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]
rs72981448	1.00[AFR][1000 genomes]
rs72981456	1.00[AFR][1000 genomes]
rs72981499	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135694000-135726600	Weak transcription	Esophagus	oesophagus
2	chr3:135701600-135720600	Weak transcription	Ovary	ovary
3	chr3:135707000-135736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:135707000-135741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:135708200-135730200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:135709800-135717800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:135710000-135726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:135710000-135727200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:135710000-135737600	Weak transcription	Left Ventricle	heart
10	chr3:135710800-135727600	Weak transcription	Aorta	Aorta
11	chr3:135711600-135727800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:135711600-135731000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:135711800-135727000	Weak transcription	Pancreas	Pancrea
14	chr3:135711800-135727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:135711800-135730400	Weak transcription	HSMM	muscle
16	chr3:135711800-135730400	Weak transcription	Osteobl	bone
17	chr3:135711800-135737600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:135712400-135721800	Weak transcription	NHDF-Ad	bronchial
19	chr3:135714000-135718000	Weak transcription	Brain Germinal Matrix	brain
20	chr3:135714000-135718800	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:135714000-135720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:135714000-135721200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:135714000-135729200	Weak transcription	NH-A	brain
24	chr3:135714000-135735600	Weak transcription	Fetal Heart	heart
25	chr3:135714200-135726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:135714200-135737600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:135714400-135719600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:135714600-135717800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:135714600-135718200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:135714600-135726000	Weak transcription	Placenta	Placenta
31	chr3:135714800-135737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:135715000-135727000	Weak transcription	NHLF	lung
33	chr3:135715600-135732200	Weak transcription	Fetal Lung	lung
34	chr3:135715600-135737000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:135715600-135737600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:135716200-135717400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:135716200-135736400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:135716400-135718400	Enhancers	Brain Substantia Nigra	brain
39	chr3:135716400-135719000	Enhancers	Brain Hippocampus Middle	brain
40	chr3:135716600-135720400	Weak transcription	Gastric	stomach
41	chr3:135716800-135717400	Enhancers	Psoas Muscle	Psoas
42	chr3:135716800-135717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:135716800-135717800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr3:135717000-135717800	Enhancers	Brain Anterior Caudate	brain
45	chr3:135717000-135718800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:135717000-135718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:135717000-135726200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:135717000-135726600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:135717000-135727000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:135717000-135730400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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