Variant report

Variant	rs60951295
Chromosome Location	chr4:143475473-143475474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11100748	0.81[ASN][1000 genomes]
rs11939291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504375	0.81[ASN][1000 genomes]
rs12505079	0.82[ASN][1000 genomes]
rs12645394	0.88[ASN][1000 genomes]
rs13144094	0.82[ASN][1000 genomes]
rs1425518	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1476122	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1559709	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998558	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16998560	0.87[ASN][1000 genomes]
rs17016344	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17016354	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17016379	0.95[ASN][1000 genomes]
rs1963849	0.95[ASN][1000 genomes]
rs2042643	0.82[ASN][1000 genomes]
rs2217016	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34223306	0.93[ASN][1000 genomes]
rs4246729	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4975312	0.94[ASN][1000 genomes]
rs4975313	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4975317	0.81[ASN][1000 genomes]
rs57201046	0.95[ASN][1000 genomes]
rs57260347	0.95[ASN][1000 genomes]
rs58078405	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58899027	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59732892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60257926	0.87[ASN][1000 genomes]
rs61142249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6537109	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6537110	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67311549	0.95[ASN][1000 genomes]
rs67900719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814775	0.95[ASN][1000 genomes]
rs6816875	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7664281	0.82[ASN][1000 genomes]
rs7671198	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs890191	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890192	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143468800-143480000	Weak transcription	Left Ventricle	heart
2	chr4:143469400-143477200	Weak transcription	Psoas Muscle	Psoas
3	chr4:143470200-143477400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr4:143470400-143478000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr4:143470800-143478600	Weak transcription	Pancreas	Pancrea
6	chr4:143471000-143475600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:143471200-143481800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:143471400-143477600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:143471400-143477600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:143471400-143481800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:143471600-143476200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:143471600-143480000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:143472200-143478600	Weak transcription	Fetal Heart	heart
14	chr4:143472400-143481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:143472600-143477800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:143472600-143486800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:143473000-143479000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:143473200-143477200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:143473200-143477200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:143473400-143477000	Weak transcription	HMEC	breast
21	chr4:143473600-143475600	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:143473600-143477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:143474000-143477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:143474400-143475800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:143474400-143477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:143474400-143477200	Weak transcription	A549	lung
27	chr4:143474800-143475600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:143474800-143476200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:143474800-143477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:143475000-143477200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:143475000-143477200	Weak transcription	Fetal Intestine Large	intestine

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