Variant report

Variant	rs72981436
Chromosome Location	chr3:135711232-135711233
allele	A/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:

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]
rs72981447	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:48 , 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	chr3:135694200-135713400	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:135701600-135720600	Weak transcription	Ovary	ovary
5	chr3:135704600-135716400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:135706200-135711800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:135706400-135711800	Enhancers	Osteobl	bone
8	chr3:135706600-135711800	Enhancers	NH-A	brain
9	chr3:135706600-135712400	Enhancers	NHDF-Ad	bronchial
10	chr3:135707000-135736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:135707000-135741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:135707200-135711800	Enhancers	Colon Smooth Muscle	Colon
13	chr3:135707600-135711800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:135707600-135711800	Enhancers	NHLF	lung
15	chr3:135707800-135711600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:135708000-135711800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:135708200-135716600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:135708200-135730200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:135708600-135713600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:135709000-135711400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:135709000-135712000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:135709600-135711800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:135709600-135711800	Enhancers	HMEC	breast
24	chr3:135709600-135712400	Enhancers	NHEK	skin
25	chr3:135709800-135711800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:135709800-135711800	Enhancers	Rectal Smooth Muscle	rectum
27	chr3:135709800-135711800	Enhancers	HSMM	muscle
28	chr3:135709800-135717800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:135710000-135711400	Weak transcription	Right Ventricle	heart
30	chr3:135710000-135711800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:135710000-135716800	Weak transcription	Psoas Muscle	Psoas
32	chr3:135710000-135726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:135710000-135727200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:135710000-135737600	Weak transcription	Left Ventricle	heart
35	chr3:135710400-135711600	Enhancers	Stomach Smooth Muscle	stomach
36	chr3:135710600-135711600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:135710600-135713000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr3:135710600-135715400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:135710800-135713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:135710800-135713400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:135710800-135713800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:135710800-135727600	Weak transcription	Aorta	Aorta
43	chr3:135711000-135711400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:135711000-135711400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:135711000-135711400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:135711000-135711600	Enhancers	Fetal Heart	heart
47	chr3:135711200-135711400	Enhancers	Stomach Mucosa	stomach
48	chr3:135711200-135711400	Flanking Active TSS	HUVEC	blood vessel

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