Variant report

Variant	rs56015601
Chromosome Location	chr4:148404689-148404690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10011966	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10024834	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10305860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10305862	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11100963	0.88[ASN][1000 genomes]
rs11722942	0.87[ASN][1000 genomes]
rs11727337	0.87[ASN][1000 genomes]
rs11727397	0.87[ASN][1000 genomes]
rs11730985	0.87[ASN][1000 genomes]
rs11731096	0.83[ASN][1000 genomes]
rs11731097	0.83[ASN][1000 genomes]
rs11731134	0.87[ASN][1000 genomes]
rs12509416	0.90[ASN][1000 genomes]
rs12642328	0.88[ASN][1000 genomes]
rs13112065	0.87[ASN][1000 genomes]
rs13127894	0.86[ASN][1000 genomes]
rs13138887	0.82[ASN][1000 genomes]
rs13143677	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13144507	0.89[ASN][1000 genomes]
rs1366688	0.86[ASN][1000 genomes]
rs1400554	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1400558	0.87[ASN][1000 genomes]
rs1400559	0.87[ASN][1000 genomes]
rs1400560	0.87[ASN][1000 genomes]
rs1517134	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1517138	0.87[ASN][1000 genomes]
rs1517139	0.87[ASN][1000 genomes]
rs17474816	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17474823	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1801708	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949375	0.87[ASN][1000 genomes]
rs1996373	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996374	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063936	0.87[ASN][1000 genomes]
rs34256803	0.88[ASN][1000 genomes]
rs35686091	0.88[ASN][1000 genomes]
rs4631019	0.85[ASN][1000 genomes]
rs4835081	0.87[ASN][1000 genomes]
rs4835083	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835084	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835086	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4835401	0.87[ASN][1000 genomes]
rs4835405	0.87[ASN][1000 genomes]
rs4835407	0.87[ASN][1000 genomes]
rs4835410	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57886575	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6537479	0.86[ASN][1000 genomes]
rs6537480	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537482	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6537483	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6537484	0.80[ASN][1000 genomes]
rs6810637	0.80[ASN][1000 genomes]
rs6817469	0.85[ASN][1000 genomes]
rs6819740	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6820938	0.98[ASN][1000 genomes]
rs6823537	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835512	0.81[ASN][1000 genomes]
rs6840108	0.85[ASN][1000 genomes]
rs6840756	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6840784	0.86[ASN][1000 genomes]
rs6848108	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6853791	0.80[ASN][1000 genomes]
rs6855875	0.96[ASN][1000 genomes]
rs702757	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655670	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7659823	0.98[ASN][1000 genomes]
rs7663891	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308218	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952402	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959600	0.87[ASN][1000 genomes]
rs984457	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984458	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991584	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148403000-148405600	Weak transcription	Spleen	Spleen
2	chr4:148403800-148417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:148404200-148405600	Weak transcription	Left Ventricle	heart
4	chr4:148404200-148405800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:148404200-148407600	Weak transcription	NHEK	skin
6	chr4:148404200-148408000	Weak transcription	Aorta	Aorta
7	chr4:148404200-148408000	Weak transcription	Gastric	stomach
8	chr4:148404200-148412000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:148404200-148413000	Weak transcription	Osteobl	bone
10	chr4:148404200-148413200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:148404200-148418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:148404200-148419000	Weak transcription	HMEC	breast
13	chr4:148404400-148405000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:148404400-148406200	Enhancers	Fetal Heart	heart
15	chr4:148404400-148406400	Weak transcription	Ovary	ovary
16	chr4:148404400-148406800	Weak transcription	Fetal Intestine Small	intestine
17	chr4:148404400-148406800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:148404400-148407400	Weak transcription	Right Ventricle	heart
19	chr4:148404400-148407600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:148404400-148408200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:148404400-148408200	Weak transcription	NHDF-Ad	bronchial
22	chr4:148404400-148409400	Weak transcription	NH-A	brain
23	chr4:148404600-148405600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:148404600-148405600	Weak transcription	Fetal Lung	lung
25	chr4:148404600-148406800	Weak transcription	Fetal Stomach	stomach
26	chr4:148404600-148406800	Weak transcription	Right Atrium	heart
27	chr4:148404600-148412000	Weak transcription	Fetal Kidney	kidney
28	chr4:148404600-148413000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:148404600-148413000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:148404600-148413200	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:148404600-148419000	Weak transcription	NHLF	lung

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