Variant report

Variant	rs1317354
Chromosome Location	chr4:148926457-148926458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10021480	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10029825	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519933	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435037	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17024251	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28493775	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28552498	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28754881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36025358	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4364238	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55912417	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657155	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58201461	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6535571	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535572	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6811259	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849257	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6856135	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73854000	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs869762	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9762680	0.85[ASN][1000 genomes]
rs9990586	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996477	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][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	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148866400-148927400	Weak transcription	Thymus	Thymus
2	chr4:148885600-148939000	Weak transcription	Pancreas	Pancrea
3	chr4:148889200-148936200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:148891600-148928000	Weak transcription	A549	lung
5	chr4:148896600-148928400	Weak transcription	Spleen	Spleen
6	chr4:148906400-148928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:148907200-148928000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148907400-148928400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:148910200-148928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:148911600-148936200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:148913200-148929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:148913600-148933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:148915200-148928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:148916400-148928200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:148916600-148928800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:148916800-148927800	Weak transcription	HUVEC	blood vessel
17	chr4:148917800-148927000	Weak transcription	HSMMtube	muscle
18	chr4:148917800-148927200	Weak transcription	Lung	lung
19	chr4:148918000-148928000	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:148918000-148968000	Weak transcription	Gastric	stomach
21	chr4:148918200-148929200	Weak transcription	Ovary	ovary
22	chr4:148918200-148937000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:148918800-148928400	Weak transcription	HSMM	muscle
24	chr4:148921000-148928200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:148921000-148928400	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:148921000-148928400	Weak transcription	NHEK	skin
27	chr4:148921000-148929000	Weak transcription	Aorta	Aorta
28	chr4:148921000-148930600	Weak transcription	Fetal Intestine Small	intestine
29	chr4:148921000-148930800	Weak transcription	GM12878-XiMat	blood
30	chr4:148921000-148945000	Weak transcription	Esophagus	oesophagus
31	chr4:148921200-148928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:148921200-148928400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:148921200-148932400	Weak transcription	Fetal Stomach	stomach
34	chr4:148921400-148927400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:148924400-148926600	Enhancers	Psoas Muscle	Psoas
36	chr4:148925000-148926600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:148925000-148928200	Weak transcription	HMEC	breast
38	chr4:148925000-148929800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:148925200-148926600	Enhancers	Right Atrium	heart
40	chr4:148925200-148927200	Weak transcription	Right Ventricle	heart
41	chr4:148925200-148927800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr4:148926000-148927000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:148926000-148927200	Weak transcription	Left Ventricle	heart
44	chr4:148926000-148927800	Weak transcription	Hela-S3	cervix
45	chr4:148926000-148928400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr4:148926200-148928400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:148926200-148928600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:148926400-148927600	Enhancers	Fetal Muscle Trunk	muscle
49	chr4:148926400-148927800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:148926400-148928000	Weak transcription	Monocytes-CD14+_RO01746	blood

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