Variant report

Variant	rs2627834
Chromosome Location	chr4:143174398-143174399
allele	G/T
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]
rs10029437	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1219266	0.80[EUR][1000 genomes]
rs1219268	0.80[EUR][1000 genomes]
rs1219269	0.80[EUR][1000 genomes]
rs1219272	0.80[EUR][1000 genomes]
rs12500144	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1390994	0.80[EUR][1000 genomes]
rs1497139	0.82[EUR][1000 genomes]
rs1532450	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs182862	0.80[EUR][1000 genomes]
rs1907109	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907113	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907117	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907119	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1907135	0.80[EUR][1000 genomes]
rs1907137	0.84[EUR][1000 genomes]
rs1948323	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130685	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172023	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627812	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627816	0.92[EUR][1000 genomes]
rs2627817	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2627835	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627836	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636632	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636635	0.81[ASN][1000 genomes]
rs2636641	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636642	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636643	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636647	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636657	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636660	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636679	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2636685	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102436	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102437	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102438	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102443	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3102444	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3102446	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113511	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3113513	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113515	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs336384	0.80[EUR][1000 genomes]
rs34648309	0.87[AMR][1000 genomes];0.86[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:143153800-143181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:143159200-143181000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:143159200-143181000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:143160400-143180000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:143160600-143185000	Weak transcription	HMEC	breast
9	chr4:143160600-143186400	Weak transcription	HSMM	muscle
10	chr4:143164400-143181000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:143164600-143176200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:143164600-143186000	Weak transcription	HSMMtube	muscle
13	chr4:143170400-143181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:143171000-143185600	Weak transcription	NHDF-Ad	bronchial
15	chr4:143171000-143185800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:143171000-143186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:143171200-143182000	Weak transcription	A549	lung
18	chr4:143171600-143182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:143172600-143175200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:143173000-143174400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:143173200-143174600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:143173200-143181000	Weak transcription	NHEK	skin
23	chr4:143173200-143184200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:143173600-143174600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:143173800-143174400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:143173800-143174400	Strong transcription	Primary T cells from cord blood	blood
27	chr4:143173800-143174600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:143174000-143174600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr4:143174000-143174600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:143174000-143174600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:143174000-143175000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:143174200-143174400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:143174200-143174400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:143174200-143174600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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