Variant report

Variant	rs7696623
Chromosome Location	chr4:16267796-16267797
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11722358	1.00[JPT][hapmap]
rs11726505	0.91[EUR][1000 genomes]
rs11728731	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11735246	1.00[CHB][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11735255	1.00[JPT][hapmap]
rs16893316	1.00[JPT][hapmap]
rs16893404	1.00[JPT][hapmap]
rs17559158	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2041541	0.92[EUR][1000 genomes]
rs2312941	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3846353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3846354	0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41459449	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55863436	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6449220	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6828457	1.00[JPT][hapmap]
rs73118055	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7668272	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7677927	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7681211	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7695512	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7698003	1.00[CHB][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:16242200-16267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:16254800-16268800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:16256200-16270800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:16256400-16270600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:16258200-16278600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:16258400-16268000	Weak transcription	Esophagus	oesophagus
8	chr4:16258400-16268000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:16258400-16270600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:16258400-16271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:16258600-16268800	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:16258600-16270600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:16258600-16272000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:16258800-16268000	Weak transcription	Fetal Stomach	stomach
15	chr4:16259000-16271000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:16259200-16271000	Weak transcription	Adipose Nuclei	Adipose
17	chr4:16259400-16270600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:16259400-16270800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:16259400-16272200	Weak transcription	Fetal Intestine Large	intestine
20	chr4:16261600-16272200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:16264400-16268600	Enhancers	Primary B cells from cord blood	blood
22	chr4:16264800-16269600	Weak transcription	Left Ventricle	heart
23	chr4:16265000-16270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:16266200-16268600	Weak transcription	Brain Angular Gyrus	brain
25	chr4:16266400-16271000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:16266600-16270800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:16267400-16267800	Active TSS	Gastric	stomach
28	chr4:16267400-16268000	Strong transcription	Pancreas	Pancrea
29	chr4:16267400-16268200	Strong transcription	Fetal Intestine Small	intestine
30	chr4:16267400-16268400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:16267400-16268400	Enhancers	Primary B cells from peripheral blood	blood
32	chr4:16267600-16267800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:16267600-16268000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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