Variant report

Variant	rs13123449
Chromosome Location	chr4:53826689-53826690
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10010254	1.00[EUR][1000 genomes]
rs11133240	0.96[EUR][1000 genomes]
rs13104612	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13104971	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13120717	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1319626	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1384695	0.96[EUR][1000 genomes]
rs1531836	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2170689	0.96[EUR][1000 genomes]
rs2898683	0.92[EUR][1000 genomes]
rs301089	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs301110	1.00[EUR][1000 genomes]
rs301112	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34704735	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3849652	0.86[EUR][1000 genomes]
rs403536	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6554062	0.96[EUR][1000 genomes]
rs6554063	0.93[EUR][1000 genomes]
rs6831230	0.93[EUR][1000 genomes]
rs6844522	0.80[EUR][1000 genomes]
rs6853639	0.93[EUR][1000 genomes]
rs7685087	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7689426	0.93[EUR][1000 genomes]
rs958693	0.96[EUR][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:53808600-53828000	Weak transcription	Right Atrium	heart
3	chr4:53808800-53836000	Weak transcription	Esophagus	oesophagus
4	chr4:53812400-53828000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:53812400-53831200	Weak transcription	Aorta	Aorta
6	chr4:53813200-53827000	Weak transcription	Spleen	Spleen
7	chr4:53814200-53829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:53815600-53829800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:53816200-53834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:53817200-53832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:53817600-53829600	Weak transcription	NH-A	brain
12	chr4:53818200-53849800	Weak transcription	Primary T cells from cord blood	blood
13	chr4:53822400-53828400	Enhancers	NHDF-Ad	bronchial
14	chr4:53822600-53827400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:53822600-53829400	Weak transcription	Fetal Brain Male	brain
16	chr4:53823600-53829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:53823600-53830800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:53823800-53827000	Weak transcription	Pancreas	Pancrea
19	chr4:53824000-53828000	Weak transcription	Psoas Muscle	Psoas
20	chr4:53824200-53828000	Weak transcription	Thymus	Thymus
21	chr4:53824200-53829800	Weak transcription	Fetal Brain Female	brain
22	chr4:53824400-53828800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:53824600-53828800	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:53824600-53829800	Weak transcription	Brain Germinal Matrix	brain
25	chr4:53824800-53827600	Weak transcription	Placenta	Placenta
26	chr4:53824800-53828400	Weak transcription	Fetal Thymus	thymus
27	chr4:53825000-53827400	Weak transcription	Gastric	stomach
28	chr4:53825000-53829800	Weak transcription	Fetal Intestine Large	intestine
29	chr4:53825400-53829000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:53825600-53826800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:53825600-53827200	Weak transcription	Ovary	ovary
32	chr4:53826200-53829400	Weak transcription	Fetal Heart	heart
33	chr4:53826400-53827200	Enhancers	Fetal Muscle Trunk	muscle
34	chr4:53826400-53829400	Weak transcription	Fetal Kidney	kidney
35	chr4:53826600-53827000	Weak transcription	Fetal Lung	lung
36	chr4:53826600-53827200	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:53826600-53828200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:53826600-53829800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:53826600-53833400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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