Variant report

Variant	rs7679304
Chromosome Location	chr4:22681404-22681405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11939160	0.94[EUR][1000 genomes]
rs12500024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501288	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501513	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640382	0.92[EUR][1000 genomes]
rs16872876	0.92[EUR][1000 genomes]
rs16872878	0.94[EUR][1000 genomes]
rs1843486	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35819520	0.81[EUR][1000 genomes]
rs60749274	0.92[EUR][1000 genomes]
rs6448174	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6448175	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6831214	0.82[AFR][1000 genomes]
rs6832682	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6833215	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6856346	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801118	0.94[EUR][1000 genomes]
rs73801147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655837	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7656016	0.92[EUR][1000 genomes]
rs7657970	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7658624	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7689638	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7696375	0.92[EUR][1000 genomes];0.81[ASN][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:22670600-22681800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:22677200-22682200	Enhancers	Colon Smooth Muscle	Colon
3	chr4:22678600-22681600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:22678600-22681800	Weak transcription	Primary B cells from cord blood	blood
5	chr4:22678600-22687000	Weak transcription	Thymus	Thymus
6	chr4:22678800-22687200	Weak transcription	Fetal Thymus	thymus
7	chr4:22679400-22682000	Enhancers	Rectal Smooth Muscle	rectum
8	chr4:22679400-22682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:22680000-22682400	Enhancers	Liver	Liver
10	chr4:22680000-22682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:22680600-22681800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:22680600-22681800	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:22680600-22682200	Enhancers	Adipose Nuclei	Adipose
14	chr4:22680800-22681600	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:22680800-22681600	Enhancers	Fetal Intestine Small	intestine
16	chr4:22680800-22682000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:22680800-22682000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:22680800-22682200	Enhancers	HSMM	muscle
19	chr4:22680800-22682600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr4:22680800-22683200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr4:22681000-22681800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:22681000-22682200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:22681000-22682400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:22681000-22682600	Enhancers	Primary T cells from cord blood	blood
25	chr4:22681200-22681600	Weak transcription	Fetal Lung	lung
26	chr4:22681200-22681800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:22681200-22682000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:22681400-22681800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:22681400-22681800	Enhancers	Brain Hippocampus Middle	brain
30	chr4:22681400-22681800	Weak transcription	Fetal Intestine Large	intestine
31	chr4:22681400-22682000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:22681400-22682600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:22681400-22682800	Enhancers	HSMMtube	muscle

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