Variant report

Variant	rs11040149
Chromosome Location	chr3:67589391-67589392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10128734	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10839173	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10839181	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10839191	0.83[AMR][1000 genomes]
rs11040113	0.83[AMR][1000 genomes]
rs11040136	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11040137	0.83[AMR][1000 genomes]
rs11040138	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11040162	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11512404	0.83[ASN][1000 genomes]
rs11517696	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11530410	0.86[AMR][1000 genomes]
rs11602892	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12278418	0.83[AMR][1000 genomes]
rs1857786	0.80[AFR][1000 genomes]
rs2865641	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2903055	0.82[AMR][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	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
6	nsv1012416	chr3:67546244-67615531	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67560600-67620800	Weak transcription	Esophagus	oesophagus
2	chr3:67565600-67595800	Weak transcription	Fetal Kidney	kidney
3	chr3:67568000-67590600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:67578200-67600400	Weak transcription	Lung	lung
5	chr3:67578200-67612400	Weak transcription	Spleen	Spleen
6	chr3:67578200-67634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:67578400-67593800	Weak transcription	Fetal Intestine Small	intestine
8	chr3:67578600-67601800	Weak transcription	Left Ventricle	heart
9	chr3:67579200-67603400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:67579200-67608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:67579200-67620600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:67579400-67590800	Weak transcription	Fetal Stomach	stomach
13	chr3:67579400-67591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:67579400-67598200	Weak transcription	Aorta	Aorta
15	chr3:67579400-67600600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:67579400-67623000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:67579400-67633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
19	chr3:67579600-67601000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:67579600-67601800	Weak transcription	Fetal Intestine Large	intestine
21	chr3:67579600-67601800	Weak transcription	Ovary	ovary
22	chr3:67580000-67606400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr3:67580600-67591200	Weak transcription	Primary T cells from cord blood	blood
24	chr3:67580800-67620200	Weak transcription	GM12878-XiMat	blood
25	chr3:67582000-67590800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:67582000-67601600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:67582200-67637000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:67582400-67596400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:67582400-67609000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:67582400-67620400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:67582600-67612000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:67584400-67601600	Weak transcription	A549	lung
33	chr3:67586000-67591000	Weak transcription	Psoas Muscle	Psoas
34	chr3:67586200-67597600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:67587000-67593600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:67587000-67620200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:67587400-67628000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:67588800-67602200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:67589000-67593600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:67589000-67603000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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