Variant report

Variant	rs12571055
Chromosome Location	chr10:5792762-5792763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5731846..5734735-chr10:5789579..5792999,3	K562	blood:
2	chr10:5781966..5784201-chr10:5791463..5794331,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11254115	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11254828	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11254898	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11255139	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11255237	0.81[AMR][1000 genomes]
rs11255288	0.81[AMR][1000 genomes]
rs12257412	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12572339	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1567708	0.84[ASN][1000 genomes]
rs2246268	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2275772	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2669133	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2669139	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797490	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797492	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797497	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34404996	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750636	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793708	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3924378	0.85[ASN][1000 genomes]
rs57103262	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57832226	0.80[ASN][1000 genomes]
rs58502403	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59827083	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60864347	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7089693	0.85[ASN][1000 genomes]
rs7096328	0.87[ASN][1000 genomes]
rs73610559	1.00[EUR][1000 genomes];0.87[ASN][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	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762200-5795400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr10:5762400-5794600	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr10:5762600-5843400	Strong transcription	Dnd41	blood
4	chr10:5762800-5793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:5763000-5795000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:5767200-5792800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:5775200-5794400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:5777000-5795800	Strong transcription	Fetal Thymus	thymus
11	chr10:5779000-5804600	Strong transcription	A549	lung
12	chr10:5779200-5796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:5779400-5795200	Strong transcription	Primary B cells from cord blood	blood
14	chr10:5779600-5793800	Strong transcription	HSMM	muscle
15	chr10:5780600-5793000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:5781400-5793000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:5781600-5794400	Strong transcription	Adipose Nuclei	Adipose
19	chr10:5781600-5796200	Strong transcription	Fetal Muscle Leg	muscle
20	chr10:5781600-5796400	Strong transcription	Placenta	Placenta
21	chr10:5783400-5796600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr10:5783800-5792800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:5784800-5799400	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
26	chr10:5785600-5792800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:5785800-5796800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:5786200-5816400	Weak transcription	Right Atrium	heart
29	chr10:5786800-5793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:5788000-5795000	Strong transcription	GM12878-XiMat	blood
31	chr10:5788000-5818000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr10:5788200-5793400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:5789200-5795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr10:5789200-5795800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:5789200-5798600	Weak transcription	Brain Angular Gyrus	brain
36	chr10:5789200-5799000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:5789200-5804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:5789400-5798600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr10:5790200-5795800	Strong transcription	Primary T cells from cord blood	blood
40	chr10:5790400-5798800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:5790600-5793600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:5790600-5794200	Weak transcription	Brain Anterior Caudate	brain
43	chr10:5790600-5794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:5790600-5798400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:5790600-5800200	Weak transcription	Fetal Brain Male	brain
46	chr10:5790800-5793600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:5790800-5793600	Weak transcription	Brain Hippocampus Middle	brain
48	chr10:5790800-5798600	Weak transcription	Brain Substantia Nigra	brain
49	chr10:5790800-5799000	Weak transcription	HSMMtube	muscle
50	chr10:5790800-5799200	Weak transcription	HUVEC	blood vessel

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