Variant report

Variant	rs360083
Chromosome Location	chr1:226052830-226052831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226049743..226051440-chr1:226051504..226053269,2	K562	blood:
2	chr1:225965000..225971731-chr1:226051573..226055609,6	K562	blood:
3	chr1:226050607..226053487-chr1:226058918..226061086,2	K562	blood:

Variant related genes	Relation type
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs111990	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12041277	0.94[ASN][1000 genomes]
rs168618	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168619	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2854452	0.89[ASN][1000 genomes]
rs360061	0.93[ASN][1000 genomes]
rs360063	0.85[ASN][1000 genomes]
rs360075	0.80[EUR][1000 genomes]
rs360077	0.82[EUR][1000 genomes]
rs360088	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs360091	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360092	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs360095	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360096	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs360101	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs360102	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs360103	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:226033600-226053000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr1:226034000-226056800	Strong transcription	Adipose Nuclei	Adipose
5	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
8	chr1:226036800-226058600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
10	chr1:226037000-226054200	Weak transcription	Small Intestine	intestine
11	chr1:226037600-226060600	Strong transcription	Placenta	Placenta
12	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
13	chr1:226038400-226059600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:226038600-226054800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:226039000-226063200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:226039400-226053000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:226039400-226053200	Strong transcription	Thymus	Thymus
20	chr1:226039600-226053800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:226039600-226059800	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:226039600-226062200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:226039600-226063000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:226039800-226053800	Strong transcription	Fetal Stomach	stomach
25	chr1:226040400-226053400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:226040600-226053000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:226040600-226053400	Strong transcription	Primary T cells from cord blood	blood
28	chr1:226040800-226053400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:226040800-226053400	Weak transcription	HMEC	breast
30	chr1:226041000-226053000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:226041000-226053000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:226041200-226053800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:226044200-226053400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:226044400-226053400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:226044400-226062800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:226044600-226053000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:226044600-226053600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:226044600-226056400	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:226044800-226053000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:226045000-226060800	Strong transcription	Liver	Liver
43	chr1:226046200-226053800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:226046200-226057200	Strong transcription	K562	blood
45	chr1:226046200-226063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:226046400-226055000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:226046800-226054400	Strong transcription	Brain Angular Gyrus	brain
48	chr1:226046800-226057200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:226046800-226059400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:226047000-226055000	Strong transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links