Variant report

Variant	rs13146453
Chromosome Location	chr4:129981480-129981481
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	chr4:129977804..129979705-chr4:129980328..129983022,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11098995	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722717	0.83[ASN][1000 genomes]
rs11723520	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725174	0.83[AFR][1000 genomes]
rs11726460	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11728895	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728986	0.83[AFR][1000 genomes]
rs11736968	0.83[AFR][1000 genomes]
rs11737003	0.83[AFR][1000 genomes]
rs11737495	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500480	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500938	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12501507	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12501997	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12505609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12509933	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13107038	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115576	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13118479	0.95[ASN][1000 genomes]
rs13124420	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13129706	0.95[ASN][1000 genomes]
rs13134769	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13142673	0.83[AFR][1000 genomes]
rs13144594	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13148505	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446996	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014099	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17185515	0.82[ASN][1000 genomes]
rs17351999	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17789626	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34145504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34359646	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34514942	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34633860	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34810794	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35094990	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35363237	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35501727	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35693043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961303	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35975200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754476	0.83[AFR][1000 genomes]
rs4552476	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62316964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62316972	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62317936	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62318662	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66737416	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
2	chr4:129977200-130000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:129977400-129981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:129977400-129981600	Weak transcription	Aorta	Aorta
5	chr4:129977400-129981600	Weak transcription	Gastric	stomach
6	chr4:129977400-129981800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:129977400-129981800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:129977400-129982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:129977400-129982000	Weak transcription	Ovary	ovary
10	chr4:129977400-129982000	Weak transcription	Pancreas	Pancrea
11	chr4:129979400-129983800	Weak transcription	NH-A	brain
12	chr4:129980000-129983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:129980000-129986000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr4:129980200-129985200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr4:129980200-129985400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr4:129980200-129986200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:129980400-129985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr4:129980400-129985600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:129980800-129984200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:129980800-129985000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr4:129981200-129982600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:129981200-129987200	ZNF genes & repeats	Dnd41	blood
23	chr4:129981400-129982000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:129981400-129985000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr4:129981400-129985200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:129981400-129985200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr4:129981400-129985200	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr4:129981400-129987000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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