Variant report

Variant	rs13082553
Chromosome Location	chr3:157862598-157862599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157856122..157858271-chr3:157860097..157863022,2	K562	blood:
2	chr3:157860838..157862623-chr3:157864938..157867104,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1193518	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13060716	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13082712	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1730028	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4679822	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7626909	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7652909	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs827154	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs864877	0.84[EUR][1000 genomes]
rs9857883	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9860241	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv829768	chr3:157832878-158012070	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157830000-157866400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr3:157837600-157877600	Weak transcription	Fetal Heart	heart
3	chr3:157838800-157862600	Weak transcription	Pancreas	Pancrea
4	chr3:157843000-157868600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:157843600-157866200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:157843600-157886800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:157846000-157868400	Weak transcription	Lung	lung
8	chr3:157846000-157869200	Weak transcription	Esophagus	oesophagus
9	chr3:157846200-157862800	Weak transcription	Fetal Brain Female	brain
10	chr3:157846200-157869200	Weak transcription	Psoas Muscle	Psoas
11	chr3:157846200-157869200	Weak transcription	NHEK	skin
12	chr3:157846200-157872000	Weak transcription	Primary T cells from cord blood	blood
13	chr3:157846200-157875200	Weak transcription	Gastric	stomach
14	chr3:157846200-157893400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:157846200-157893600	Weak transcription	Aorta	Aorta
16	chr3:157846600-157867400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:157846600-157878600	Weak transcription	HSMM	muscle
18	chr3:157846800-157866200	Weak transcription	Brain Angular Gyrus	brain
19	chr3:157846800-157874000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:157846800-157874600	Weak transcription	Fetal Lung	lung
21	chr3:157846800-157876800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:157846800-157876800	Weak transcription	K562	blood
23	chr3:157846800-157894400	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:157847000-157868600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:157847000-157873200	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:157847200-157876800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:157847800-157869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:157848000-157863800	Weak transcription	Liver	Liver
29	chr3:157848000-157869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:157848000-157888200	Weak transcription	Thymus	Thymus
31	chr3:157848200-157867200	Weak transcription	Primary B cells from cord blood	blood
32	chr3:157848200-157876200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:157848200-157886800	Weak transcription	Ovary	ovary
34	chr3:157848400-157870200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:157848800-157872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:157849400-157894400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:157850200-157872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:157850600-157886400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:157852000-157872800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:157854600-157911800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:157856000-157869000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:157856200-157863600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:157856200-157877000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:157856200-157894400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:157856400-157869400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:157856400-157872600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:157856400-157872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:157856400-157873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:157856400-157877000	Weak transcription	A549	lung
50	chr3:157856400-157878600	Weak transcription	Hela-S3	cervix

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