Variant report

Variant	rs11130354
Chromosome Location	chr3:53224604-53224605
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1075865	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4687707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6793352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6797505	0.96[AFR][1000 genomes]
rs900495	1.00[AFR][1000 genomes];1.00[AMR][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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53197600-53227600	Weak transcription	Hela-S3	cervix
2	chr3:53200600-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:53201600-53228000	Weak transcription	NH-A	brain
4	chr3:53202000-53228400	Weak transcription	Fetal Kidney	kidney
5	chr3:53202800-53229600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:53203200-53226800	Strong transcription	Fetal Stomach	stomach
7	chr3:53203600-53229800	Weak transcription	A549	lung
8	chr3:53205600-53229800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:53206800-53228000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:53207200-53227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr3:53207200-53227600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:53209600-53228000	Weak transcription	HUVEC	blood vessel
13	chr3:53209600-53228400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:53210000-53229000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:53210600-53228400	Strong transcription	Gastric	stomach
16	chr3:53211000-53227400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:53211400-53227800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:53211600-53224800	Strong transcription	Rectal Smooth Muscle	rectum
19	chr3:53211800-53227800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:53212200-53225200	Strong transcription	Right Ventricle	heart
21	chr3:53212200-53226200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:53212200-53226800	Strong transcription	Lung	lung
23	chr3:53212200-53227000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:53212400-53225200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:53212400-53225400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr3:53212400-53226200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:53212400-53226200	Strong transcription	Esophagus	oesophagus
28	chr3:53212400-53226800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:53212600-53226400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:53212600-53226400	Strong transcription	Ovary	ovary
31	chr3:53212800-53226800	Strong transcription	HMEC	breast
32	chr3:53213200-53225200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:53214200-53229600	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:53214400-53225400	Strong transcription	Fetal Muscle Leg	muscle
35	chr3:53214400-53229600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:53214800-53228800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:53214800-53229600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:53214800-53229800	Weak transcription	Brain Substantia Nigra	brain
39	chr3:53215000-53229800	Weak transcription	Fetal Brain Female	brain
40	chr3:53215200-53226000	Strong transcription	Adipose Nuclei	Adipose
41	chr3:53215400-53228800	Strong transcription	Placenta	Placenta
42	chr3:53215600-53225800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr3:53215600-53226000	Strong transcription	Spleen	Spleen
44	chr3:53215600-53226200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr3:53215600-53226800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr3:53216000-53225800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:53216000-53227800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:53216000-53229800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr3:53216200-53229800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:53217200-53227800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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