Variant report

Variant	rs11127623
Chromosome Location	chr3:67520118-67520119
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11705861	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11709258	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11710800	0.82[ASN][1000 genomes]
rs11920877	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11923553	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12374036	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12495460	0.86[ASN][1000 genomes]
rs12497043	0.82[ASN][1000 genomes]
rs13059103	0.85[ASN][1000 genomes]
rs13076634	0.82[ASN][1000 genomes]
rs13090999	0.85[ASN][1000 genomes]
rs13095360	0.82[ASN][1000 genomes]
rs4327406	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4349513	0.82[AMR][1000 genomes]
rs4527392	0.84[EUR][1000 genomes]
rs4577484	0.82[ASN][1000 genomes]
rs4645146	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4856782	0.82[ASN][1000 genomes]
rs4856863	0.81[ASN][1000 genomes]
rs4856864	0.82[ASN][1000 genomes]
rs4856865	0.82[ASN][1000 genomes]
rs56393250	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57077433	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60806282	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60931405	0.82[ASN][1000 genomes]
rs62256386	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62256387	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62256391	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62256392	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62256395	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62256396	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62256399	0.84[EUR][1000 genomes]
rs6767651	0.82[ASN][1000 genomes]
rs6768043	0.82[ASN][1000 genomes]
rs6770533	0.82[ASN][1000 genomes]
rs6773365	0.85[ASN][1000 genomes]
rs6779086	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6780361	0.82[ASN][1000 genomes]
rs6791455	0.80[ASN][1000 genomes]
rs6810055	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6810165	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73088910	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7614213	0.81[ASN][1000 genomes]
rs7620241	0.83[ASN][1000 genomes]
rs7630024	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7635366	0.85[ASN][1000 genomes]
rs7651649	0.81[AMR][1000 genomes]
rs9873407	0.83[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	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
2	chr3:67473400-67521000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:67473600-67542000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:67482600-67527200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:67482600-67528600	Weak transcription	GM12878-XiMat	blood
6	chr3:67482800-67520800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr3:67482800-67533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:67488000-67544200	Weak transcription	A549	lung
9	chr3:67488400-67566400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:67492200-67545400	Weak transcription	Fetal Intestine Small	intestine
11	chr3:67498000-67534200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:67500800-67567000	Weak transcription	Pancreas	Pancrea
13	chr3:67501200-67533600	Weak transcription	Fetal Intestine Large	intestine
14	chr3:67504000-67559800	Weak transcription	Esophagus	oesophagus
15	chr3:67506600-67544000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:67508200-67577600	Weak transcription	Spleen	Spleen
17	chr3:67508800-67542000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:67509000-67537200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:67509200-67534400	Weak transcription	Left Ventricle	heart
20	chr3:67511600-67560000	Weak transcription	Lung	lung
21	chr3:67511800-67565000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:67512200-67544000	Weak transcription	Adipose Nuclei	Adipose
23	chr3:67512200-67545200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:67512400-67534200	Weak transcription	Gastric	stomach
25	chr3:67512800-67522600	Weak transcription	Fetal Lung	lung
26	chr3:67512800-67537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:67512800-67542400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:67512800-67544000	Weak transcription	Dnd41	blood
29	chr3:67512800-67544800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:67512800-67554800	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:67513000-67530800	Weak transcription	Fetal Stomach	stomach
32	chr3:67513200-67544000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:67513200-67544600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:67513200-67545200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:67513200-67564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:67513400-67520400	Weak transcription	Osteobl	bone
37	chr3:67513400-67526600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:67513400-67542600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:67513400-67567800	Weak transcription	NHLF	lung
40	chr3:67513600-67544200	Weak transcription	Liver	Liver
41	chr3:67513600-67559800	Weak transcription	NHDF-Ad	bronchial
42	chr3:67514400-67534000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:67514600-67559800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:67514800-67531200	Weak transcription	Ovary	ovary
45	chr3:67515800-67521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:67516200-67545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:67517200-67529400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:67517400-67536800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:67517600-67542400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:67518000-67521800	Strong transcription	Primary B cells from cord blood	blood

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