Variant report

Variant	rs4731338
Chromosome Location	chr7:79941202-79941203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12667354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12667590	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13234446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17153688	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17153795	1.00[AFR][1000 genomes]
rs17547287	0.87[AMR][1000 genomes]
rs304733	1.00[ASN][1000 genomes]
rs37927	1.00[ASN][1000 genomes]
rs4636124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4731345	1.00[AFR][1000 genomes]
rs764907	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79937000-79941600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:79937200-79941400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:79937200-79949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:79938800-79942000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:79938800-79942200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:79938800-79942400	Enhancers	Primary T cells from cord blood	blood
7	chr7:79939000-79941800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:79939400-79943400	Enhancers	HUVEC	blood vessel
9	chr7:79939600-79941800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:79939800-79941400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:79940000-79942800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:79940400-79942000	Enhancers	Stomach Mucosa	stomach
13	chr7:79940400-79942200	Enhancers	Fetal Lung	lung
14	chr7:79940600-79941600	Weak transcription	Fetal Kidney	kidney
15	chr7:79940600-79942000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:79940800-79941800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:79940800-79942000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:79940800-79942000	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:79940800-79943400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:79941000-79941400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:79941000-79941400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:79941000-79941400	Weak transcription	Fetal Intestine Large	intestine
23	chr7:79941000-79941400	Enhancers	A549	lung
24	chr7:79941000-79941600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:79941000-79941600	Enhancers	Small Intestine	intestine
26	chr7:79941000-79942000	Enhancers	NH-A	brain
27	chr7:79941000-79942400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:79941000-79942800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:79941200-79941400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:79941200-79941800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:79941200-79941800	Flanking Active TSS	HMEC	breast
32	chr7:79941200-79941800	Flanking Active TSS	NHEK	skin
33	chr7:79941200-79942000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:79941200-79942000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:79941200-79942000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:79941200-79942000	Enhancers	NHLF	lung
37	chr7:79941200-79942200	Enhancers	Colon Smooth Muscle	Colon
38	chr7:79941200-79942200	Enhancers	Osteobl	bone

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