Variant report

Variant	rs257975
Chromosome Location	chr5:118804583-118804584
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]
rs2257900	0.83[ASN][1000 genomes]
rs2259347	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2451816	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2546210	0.94[ASN][1000 genomes]
rs25640	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257970	0.86[ASN][1000 genomes]
rs257971	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs257972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257973	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257974	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257978	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs257979	0.89[AFR][1000 genomes]
rs26180	0.84[ASN][1000 genomes]
rs2678070	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2678091	0.86[ASN][1000 genomes]
rs2945327	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32651	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs32659	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32662	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32663	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs32665	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35235684	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs457106	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs463513	0.81[AMR][1000 genomes];0.87[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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
2	chr5:118789000-118805400	Weak transcription	Ovary	ovary
3	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
4	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
8	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:118789200-118805600	Weak transcription	Gastric	stomach
10	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:118789400-118831200	Weak transcription	NH-A	brain
13	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
14	chr5:118789600-118810600	Weak transcription	Osteobl	bone
15	chr5:118789600-118812000	Weak transcription	A549	lung
16	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:118789800-118805000	Weak transcription	Fetal Stomach	stomach
19	chr5:118789800-118805200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
22	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
24	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
25	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:118792400-118815000	Weak transcription	K562	blood
27	chr5:118793400-118805000	Weak transcription	Fetal Thymus	thymus
28	chr5:118793400-118810000	Weak transcription	Placenta	Placenta
29	chr5:118793400-118812200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:118794800-118861200	Weak transcription	HSMM	muscle
31	chr5:118795200-118813400	Weak transcription	Small Intestine	intestine
32	chr5:118795400-118805600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:118795400-118806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:118796800-118805000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:118800800-118805800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:118801200-118805000	Weak transcription	Lung	lung
37	chr5:118801200-118805400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:118801400-118805000	Weak transcription	Left Ventricle	heart
39	chr5:118801800-118805600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:118802400-118805400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:118802600-118804800	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr5:118802800-118804800	ZNF genes & repeats	Dnd41	blood
43	chr5:118802800-118805200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr5:118802800-118805800	ZNF genes & repeats	Fetal Lung	lung
45	chr5:118802800-118806000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr5:118803200-118805400	Weak transcription	Pancreas	Pancrea
47	chr5:118803200-118805600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:118803200-118805600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:118803200-118805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:118803400-118804600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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