Variant report

Variant	rs11130253
Chromosome Location	chr3:50681158-50681159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1107312	1.00[TSI][hapmap]
rs17051024	1.00[EUR][1000 genomes]
rs17051025	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2236977	1.00[TSI][hapmap]
rs2236982	1.00[TSI][hapmap]
rs28416907	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7610830	1.00[TSI][hapmap]
rs7642779	1.00[TSI][hapmap]
rs9863307	1.00[TSI][hapmap]
rs9990256	1.00[TSI][hapmap]

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	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
2	chr3:50661600-50688200	Weak transcription	Small Intestine	intestine
3	chr3:50663400-50690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:50665400-50686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:50665600-50686200	Weak transcription	Stomach Mucosa	stomach
6	chr3:50669000-50684800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:50670200-50689000	Weak transcription	K562	blood
8	chr3:50670400-50699800	Weak transcription	Hela-S3	cervix
9	chr3:50672400-50688000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:50674000-50681400	Weak transcription	Fetal Kidney	kidney
11	chr3:50674200-50687200	Strong transcription	Dnd41	blood
12	chr3:50674400-50681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:50675400-50682400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:50675400-50687400	Strong transcription	Thymus	Thymus
15	chr3:50675600-50681600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr3:50675600-50684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:50675800-50688000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:50676000-50686000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:50676000-50687600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:50676000-50688200	Strong transcription	Primary T cells from cord blood	blood
21	chr3:50676000-50689200	Strong transcription	Fetal Intestine Small	intestine
22	chr3:50676200-50686600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:50676200-50686600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr3:50676200-50686800	Strong transcription	Lung	lung
25	chr3:50676400-50681200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:50676400-50682600	Strong transcription	Spleen	Spleen
27	chr3:50676400-50686000	Strong transcription	Fetal Stomach	stomach
28	chr3:50676400-50686800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:50676400-50687000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr3:50676400-50687600	Strong transcription	Fetal Intestine Large	intestine
31	chr3:50676400-50688000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:50676400-50688000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr3:50676400-50688800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:50676600-50682000	Strong transcription	Primary B cells from cord blood	blood
35	chr3:50676600-50687600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:50676600-50688200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:50676800-50681600	Weak transcription	NHLF	lung
38	chr3:50676800-50681800	Weak transcription	Brain Angular Gyrus	brain
39	chr3:50676800-50686800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:50676800-50687000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:50676800-50687200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:50676800-50688000	Strong transcription	Esophagus	oesophagus
43	chr3:50677000-50686400	Strong transcription	Fetal Thymus	thymus
44	chr3:50677000-50686800	Strong transcription	Liver	Liver
45	chr3:50677200-50681800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:50677200-50685200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:50677200-50686200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:50677400-50681200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr3:50677400-50681400	Strong transcription	Fetal Muscle Leg	muscle
50	chr3:50677400-50686000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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