Variant report

Variant	rs12502113
Chromosome Location	chr4:121680898-121680899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11726349	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11728387	0.83[AFR][1000 genomes]
rs11733915	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11734461	0.83[AFR][1000 genomes]
rs11735169	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12499000	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12500166	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12504122	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12507359	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12507922	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12507924	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12508015	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12508821	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12509912	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12509939	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12509993	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1511303	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1511304	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1511305	0.88[ASN][1000 genomes]
rs1511307	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1511308	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1567551	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17051248	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17051250	0.83[ASN][1000 genomes]
rs17051251	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17051256	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17051258	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17051260	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs17051266	0.83[AFR][1000 genomes]
rs1949110	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1949111	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2203059	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2203060	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2221814	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2221815	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3761721	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3804162	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3804163	0.84[ASN][1000 genomes]
rs3804164	0.84[ASN][1000 genomes]
rs3804165	0.84[ASN][1000 genomes]
rs3804166	0.84[ASN][1000 genomes]
rs3804167	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3804168	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3804169	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3804171	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3827583	0.84[ASN][1000 genomes]
rs4336252	0.83[AFR][1000 genomes]
rs4833178	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4833179	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4833180	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4833181	0.84[ASN][1000 genomes]
rs4833186	0.83[AFR][1000 genomes]
rs4833674	0.84[ASN][1000 genomes]
rs4833680	0.83[AFR][1000 genomes]
rs4833687	0.83[AFR][1000 genomes]
rs55901892	0.84[ASN][1000 genomes]
rs56402218	0.84[ASN][1000 genomes]
rs72921534	0.84[ASN][1000 genomes]
rs729934	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7377202	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:121668400-121690400	Weak transcription	Osteobl	bone
3	chr4:121671800-121684200	Weak transcription	Ovary	ovary
4	chr4:121671800-121697000	Weak transcription	Pancreas	Pancrea
5	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
6	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
7	chr4:121672400-121690400	Weak transcription	Lung	lung
8	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
9	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
10	chr4:121673000-121690200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:121673000-121697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:121673000-121705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:121673200-121685600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:121673200-121690400	Weak transcription	Fetal Lung	lung
17	chr4:121673400-121690400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:121673600-121692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:121675400-121693000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:121677000-121702800	Weak transcription	Gastric	stomach
21	chr4:121677000-121707800	Weak transcription	Psoas Muscle	Psoas
22	chr4:121677200-121714000	Weak transcription	Fetal Intestine Large	intestine
23	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:121679600-121721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:121680400-121681600	Enhancers	Fetal Heart	heart

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