Variant report

Variant	rs72983479
Chromosome Location	chr3:135776005-135776006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16843592	0.94[AFR][1000 genomes]
rs16843633	0.88[AFR][1000 genomes]
rs16843661	1.00[AFR][1000 genomes]
rs56736462	1.00[AFR][1000 genomes]
rs57374999	0.88[AFR][1000 genomes]
rs58030391	0.89[AFR][1000 genomes]
rs58096685	1.00[AFR][1000 genomes]
rs58503058	1.00[AFR][1000 genomes]
rs59720283	1.00[AFR][1000 genomes]
rs59985749	1.00[AFR][1000 genomes]
rs60165730	1.00[AFR][1000 genomes]
rs60393211	0.88[AFR][1000 genomes]
rs60707425	0.88[AFR][1000 genomes]
rs61209689	0.89[AFR][1000 genomes]
rs72981415	1.00[AFR][1000 genomes]
rs72981481	0.89[AFR][1000 genomes]
rs72981494	1.00[AFR][1000 genomes]
rs72983403	1.00[AFR][1000 genomes]
rs72983409	1.00[AFR][1000 genomes]
rs72983437	1.00[AFR][1000 genomes]
rs72983449	0.89[AFR][1000 genomes]
rs72983474	1.00[AFR][1000 genomes]
rs72983475	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv4023	chr3:135772198-135816635	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135746200-135790000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:135755200-135801400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:135761000-135802400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:135761600-135783400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:135763000-135785600	Weak transcription	Brain Anterior Caudate	brain
6	chr3:135763200-135776800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:135764400-135790400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:135764600-135778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:135764800-135790400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:135765000-135776400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:135765000-135777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:135765000-135781000	Weak transcription	Fetal Brain Female	brain
13	chr3:135765000-135781200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:135765000-135781200	Weak transcription	Fetal Intestine Small	intestine
15	chr3:135765000-135786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:135765000-135801800	Weak transcription	Esophagus	oesophagus
17	chr3:135765400-135777600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:135765600-135784200	Weak transcription	Fetal Kidney	kidney
19	chr3:135765600-135785400	Weak transcription	Pancreas	Pancrea
20	chr3:135768000-135776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:135768800-135776600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:135768800-135800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:135769800-135789400	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:135769800-135789800	Weak transcription	Psoas Muscle	Psoas
25	chr3:135769800-135790000	Weak transcription	Aorta	Aorta
26	chr3:135769800-135790400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:135770000-135776600	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:135770000-135787200	Weak transcription	Osteobl	bone
29	chr3:135770000-135789800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:135770000-135800800	Weak transcription	Fetal Intestine Large	intestine
31	chr3:135770400-135789800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:135770800-135781200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:135771200-135802000	Weak transcription	Brain Germinal Matrix	brain
34	chr3:135771200-135809600	Weak transcription	Gastric	stomach
35	chr3:135771400-135776200	Weak transcription	Lung	lung
36	chr3:135771400-135778200	Weak transcription	Fetal Lung	lung
37	chr3:135771400-135789000	Weak transcription	HSMMtube	muscle
38	chr3:135772600-135780200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:135772600-135780200	Weak transcription	Fetal Stomach	stomach
40	chr3:135772600-135781000	Weak transcription	Right Ventricle	heart
41	chr3:135772600-135789600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr3:135772600-135789800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:135772600-135789800	Weak transcription	Ovary	ovary
44	chr3:135773000-135787400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:135773800-135777000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:135774400-135802000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:135774600-135781000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:135774600-135788800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:135774800-135779400	Weak transcription	NH-A	brain
50	chr3:135774800-135789000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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