Variant report

Variant	rs17013176
Chromosome Location	chr4:129292923-129292924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129272751..129275336-chr4:129291644..129293470,2	K562	blood:
2	chr4:129291868..129293627-chr4:129294804..129296374,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17013120	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17013178	1.00[AMR][1000 genomes]
rs17013235	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17013309	0.82[YRI][hapmap]
rs28427407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28529644	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28611216	1.00[AMR][1000 genomes]
rs28753719	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846923	1.00[AMR][1000 genomes]
rs73846925	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 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	chr4:129290600-129297600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:129290600-129297600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:129290800-129297400	Weak transcription	Fetal Intestine Small	intestine
4	chr4:129291200-129293600	Enhancers	Fetal Muscle Leg	muscle
5	chr4:129291200-129293800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:129291200-129293800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:129291600-129293400	Enhancers	Fetal Heart	heart
8	chr4:129291600-129293800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:129291600-129293800	Enhancers	HSMM	muscle
10	chr4:129291800-129293000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:129291800-129293000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:129291800-129293000	Enhancers	HMEC	breast
13	chr4:129291800-129293000	Enhancers	NH-A	brain
14	chr4:129291800-129293000	Enhancers	NHEK	skin
15	chr4:129291800-129293200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:129291800-129293200	Enhancers	NHDF-Ad	bronchial
17	chr4:129291800-129293600	Enhancers	Adipose Nuclei	Adipose
18	chr4:129291800-129293600	Enhancers	Aorta	Aorta
19	chr4:129291800-129293800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:129292000-129293200	Enhancers	Osteobl	bone
21	chr4:129292200-129293000	Enhancers	Pancreas	Pancrea
22	chr4:129292200-129293000	Enhancers	Right Atrium	heart
23	chr4:129292200-129293200	Enhancers	Colon Smooth Muscle	Colon
24	chr4:129292200-129293200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:129292200-129293400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:129292200-129294800	Enhancers	Ovary	ovary
27	chr4:129292400-129294000	Enhancers	HSMMtube	muscle
28	chr4:129292600-129293000	Enhancers	HepG2	liver
29	chr4:129292800-129293600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:129292800-129293600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr4:129292800-129296000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:129292800-129297600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:129292800-129306600	Weak transcription	Psoas Muscle	Psoas

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