Variant report

Variant	rs512921
Chromosome Location	chr5:43134510-43134511
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	chr5:43134040..43135764-chr5:43139091..43141451,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10064003	0.91[JPT][hapmap]
rs10522	0.91[JPT][hapmap]
rs10941604	0.87[JPT][hapmap]
rs10941605	0.87[JPT][hapmap]
rs11747714	0.86[JPT][hapmap]
rs12655504	0.82[CEU][hapmap]
rs12697439	0.91[JPT][hapmap]
rs13169690	0.90[JPT][hapmap]
rs13170208	0.91[JPT][hapmap]
rs1542369	0.90[JPT][hapmap]
rs1574407	0.91[JPT][hapmap]
rs160709	0.90[JPT][hapmap]
rs1618891	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1624415	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1628981	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670796	0.81[CHB][hapmap]
rs1690994	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1690997	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs178415	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs186324	0.86[JPT][hapmap]
rs2100473	0.87[JPT][hapmap]
rs222060	0.90[JPT][hapmap]
rs2329995	0.90[JPT][hapmap]
rs2444779	0.83[CEU][hapmap];0.80[CHB][hapmap];0.80[YRI][hapmap]
rs2453308	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2548334	0.86[JPT][hapmap]
rs2548350	0.82[JPT][hapmap]
rs2548353	0.87[JPT][hapmap];0.81[YRI][hapmap]
rs2548356	0.87[JPT][hapmap];0.86[YRI][hapmap]
rs2603644	0.86[JPT][hapmap]
rs2603656	0.86[JPT][hapmap]
rs2882295	0.82[JPT][hapmap]
rs309909	0.86[JPT][hapmap]
rs309914	0.91[JPT][hapmap]
rs309923	0.86[JPT][hapmap]
rs309924	0.86[JPT][hapmap]
rs309925	0.86[JPT][hapmap]
rs309926	0.86[JPT][hapmap]
rs309927	0.86[JPT][hapmap]
rs309950	0.86[JPT][hapmap]
rs316404	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs316408	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs316413	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs316414	0.90[JPT][hapmap]
rs3909456	0.86[JPT][hapmap]
rs4092293	0.90[JPT][hapmap]
rs4092294	0.90[JPT][hapmap]
rs479996	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4866811	0.83[CEU][hapmap]
rs499436	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511340	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs512040	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541143	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs544402	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555276	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs557076	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs574051	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57689195	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs579337	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs579363	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61004923	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61121229	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62367758	0.82[AFR][1000 genomes]
rs643307	0.91[JPT][hapmap]
rs6451660	0.91[JPT][hapmap]
rs6451661	0.91[JPT][hapmap]
rs6451662	0.90[JPT][hapmap]
rs6879130	0.91[JPT][hapmap]
rs6892422	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724430	0.87[JPT][hapmap]
rs768441	0.91[JPT][hapmap]
rs7715065	0.87[JPT][hapmap]
rs782971	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782972	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs782976	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782977	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782984	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782987	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782989	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs782994	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs782996	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs903391	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9292862	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs512921	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
2	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
5	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
7	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:43124000-43134600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
11	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
12	chr5:43124200-43137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:43124200-43145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
15	chr5:43124400-43134600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:43124400-43134600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:43124400-43138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:43124400-43147400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
20	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:43124600-43137400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:43124600-43138600	Strong transcription	Fetal Intestine Large	intestine
23	chr5:43126000-43137400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:43126200-43136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:43126600-43134600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:43126600-43137200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:43126600-43137400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:43126600-43154800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:43127600-43178000	Strong transcription	Dnd41	blood
30	chr5:43128000-43151400	Weak transcription	Right Ventricle	heart
31	chr5:43128000-43154600	Weak transcription	Brain Substantia Nigra	brain
32	chr5:43128200-43151000	Weak transcription	Ovary	ovary
33	chr5:43128200-43156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:43128400-43137000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:43128400-43137000	Weak transcription	HepG2	liver
37	chr5:43128400-43137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:43128400-43140000	Weak transcription	Brain Angular Gyrus	brain
39	chr5:43128400-43151600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:43128400-43154600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle
42	chr5:43128600-43140200	Weak transcription	Brain Anterior Caudate	brain
43	chr5:43128600-43154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:43128600-43155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:43129000-43136800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:43129000-43161400	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:43129200-43136200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:43129600-43135000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:43129600-43142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:43129600-43142800	Weak transcription	NHLF	lung

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