Variant report

Variant	rs13319623
Chromosome Location	chr3:67467998-67467999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs13322044	0.83[AFR][1000 genomes]
rs28669229	0.83[AFR][1000 genomes]
rs28688196	0.97[AFR][1000 genomes]
rs28729332	1.00[AFR][1000 genomes]
rs9815368	0.83[AFR][1000 genomes]
rs9820317	0.83[AFR][1000 genomes]
rs9828219	0.97[AFR][1000 genomes]
rs9840334	0.83[AFR][1000 genomes]
rs9843840	0.83[AFR][1000 genomes]
rs9869174	1.00[AFR][1000 genomes]
rs9879448	0.86[AFR][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	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
3	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
4	chr3:67425000-67474200	Weak transcription	Gastric	stomach
5	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:67435600-67509800	Weak transcription	Ovary	ovary
7	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
8	chr3:67440000-67470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:67441200-67471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:67442800-67478000	Weak transcription	Lung	lung
11	chr3:67449400-67486600	Weak transcription	Fetal Stomach	stomach
12	chr3:67450600-67470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:67450600-67470400	Weak transcription	A549	lung
14	chr3:67451200-67470400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:67451200-67487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:67451400-67470200	Weak transcription	Dnd41	blood
17	chr3:67453600-67470400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:67454000-67469800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:67454600-67478000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:67455200-67470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:67455200-67470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:67458600-67470600	Weak transcription	HSMM	muscle
23	chr3:67459000-67468000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:67459200-67471000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:67459600-67470200	Weak transcription	Liver	Liver
26	chr3:67459800-67468800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:67459800-67470200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:67460000-67468600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:67460000-67470200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:67460000-67470400	Weak transcription	Fetal Intestine Large	intestine
31	chr3:67463000-67487400	Weak transcription	Pancreas	Pancrea
32	chr3:67463200-67478400	Weak transcription	Psoas Muscle	Psoas
33	chr3:67463200-67484200	Weak transcription	Right Ventricle	heart
34	chr3:67465400-67489600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:67466200-67470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:67466400-67470000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:67466400-67470200	Weak transcription	Fetal Lung	lung
38	chr3:67466600-67468400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:67466600-67469600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:67466600-67470000	Weak transcription	Primary B cells from cord blood	blood
41	chr3:67466600-67470200	Weak transcription	Primary T cells from cord blood	blood
42	chr3:67466600-67470800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr3:67466600-67484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:67466600-67486200	Weak transcription	Left Ventricle	heart
45	chr3:67466600-67508400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:67467200-67468400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:67467200-67471600	Enhancers	Fetal Heart	heart
48	chr3:67467600-67469000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:67467600-67469000	Weak transcription	Osteobl	bone
50	chr3:67467800-67468800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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