Variant report

Variant	rs1729716
Chromosome Location	chr4:74475259-74475260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74469445..74471294-chr4:74473658..74475625,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1247584	1.00[AMR][1000 genomes]
rs1247585	1.00[AMR][1000 genomes]
rs1247586	1.00[AMR][1000 genomes]
rs1247589	1.00[AMR][1000 genomes]
rs1247590	1.00[AMR][1000 genomes]
rs1247591	1.00[AMR][1000 genomes]
rs1247592	1.00[AMR][1000 genomes]
rs1247595	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1247596	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247598	0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247600	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1261933	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528920	1.00[AMR][1000 genomes]
rs1528921	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1729715	0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745285	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745288	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2476027	0.88[YRI][hapmap];0.97[AFR][1000 genomes];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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74464200-74476400	Enhancers	Stomach Mucosa	stomach
2	chr4:74464200-74477200	Enhancers	Fetal Intestine Small	intestine
3	chr4:74465000-74475400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:74465400-74483000	Weak transcription	Esophagus	oesophagus
5	chr4:74465800-74476000	Weak transcription	Placenta	Placenta
6	chr4:74469800-74477200	Enhancers	HepG2	liver
7	chr4:74470000-74475400	Weak transcription	Fetal Lung	lung
8	chr4:74470000-74475400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:74470800-74476000	Enhancers	Fetal Intestine Large	intestine
10	chr4:74472200-74485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:74472400-74477800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:74472800-74476200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:74472800-74483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:74473000-74476600	Enhancers	NHEK	skin
15	chr4:74473200-74476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:74473200-74476200	Weak transcription	Gastric	stomach
17	chr4:74473400-74476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:74473400-74476400	Enhancers	Dnd41	blood
19	chr4:74473600-74475400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr4:74473600-74475800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:74473600-74476000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:74474200-74476600	Enhancers	HSMM	muscle
23	chr4:74474200-74477000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:74474200-74477200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:74474400-74475600	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:74474400-74476000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:74474400-74476200	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:74474400-74476400	Enhancers	Colon Smooth Muscle	Colon
29	chr4:74474400-74477000	Genic enhancers	Thymus	Thymus
30	chr4:74474400-74477400	Genic enhancers	HMEC	breast
31	chr4:74474400-74477800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:74474400-74479800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:74474400-74481400	Genic enhancers	Fetal Thymus	thymus
34	chr4:74474600-74475600	Enhancers	Liver	Liver
35	chr4:74474600-74477600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:74474800-74475400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:74474800-74475800	Enhancers	Osteobl	bone
38	chr4:74474800-74476000	Weak transcription	Pancreas	Pancrea
39	chr4:74474800-74477400	Enhancers	A549	lung
40	chr4:74474800-74483200	Weak transcription	Small Intestine	intestine
41	chr4:74475000-74475400	Weak transcription	Colonic Mucosa	Colon
42	chr4:74475000-74476400	Enhancers	Hela-S3	cervix
43	chr4:74475200-74475800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:74475200-74475800	Enhancers	Fetal Kidney	kidney

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