Variant report

Variant	rs1247595
Chromosome Location	chr4:74485584-74485585
allele	A/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:23)

rs_ID	r²[population]
rs1247584	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247585	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247586	1.00[AMR][1000 genomes]
rs1247589	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1247590	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247592	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247598	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247599	0.84[AFR][1000 genomes]
rs1247600	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247679	0.84[AFR][1000 genomes]
rs1261933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528920	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528921	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1729715	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1729716	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1745285	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745288	0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2476027	1.00[AMR][1000 genomes]
rs55678226	1.00[AMR][1000 genomes]
rs6826233	1.00[AMR][1000 genomes]
rs72865466	1.00[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74472200-74485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:74478600-74485800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:74481600-74486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:74482000-74487000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr4:74483200-74485600	Weak transcription	Esophagus	oesophagus
6	chr4:74483400-74485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:74484400-74486400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:74484400-74486400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:74484400-74486400	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr4:74484400-74486800	Active TSS	Fetal Stomach	stomach
11	chr4:74484600-74486600	Active TSS	Fetal Intestine Large	intestine
12	chr4:74484800-74485800	Flanking Active TSS	HMEC	breast
13	chr4:74484800-74486200	Active TSS	Stomach Mucosa	stomach
14	chr4:74484800-74486600	Active TSS	Duodenum Mucosa	Duodenum
15	chr4:74484800-74486600	Active TSS	Fetal Intestine Small	intestine
16	chr4:74485000-74485600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:74485000-74485600	Enhancers	Placenta	Placenta
18	chr4:74485000-74485600	Active TSS	A549	lung
19	chr4:74485000-74485800	Enhancers	Primary T cells from cord blood	blood
20	chr4:74485000-74486000	Active TSS	Rectal Smooth Muscle	rectum
21	chr4:74485000-74486200	Active TSS	Gastric	stomach
22	chr4:74485000-74486600	Active TSS	Colonic Mucosa	Colon
23	chr4:74485000-74486800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:74485000-74486800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:74485200-74485800	Enhancers	HepG2	liver
26	chr4:74485200-74486200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr4:74485200-74486800	Active TSS	Fetal Kidney	kidney
28	chr4:74485400-74485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:74485400-74485600	Active TSS	NHEK	skin
30	chr4:74485400-74486200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:74485400-74486200	Active TSS	Pancreas	Pancrea
32	chr4:74485400-74486600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:74485400-74486600	Flanking Active TSS	Fetal Thymus	thymus
34	chr4:74485400-74486800	Active TSS	Thymus	Thymus

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