Variant report

Variant	rs10078527
Chromosome Location	chr5:43193052-43193053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10041458	0.82[ASN][1000 genomes]
rs10044382	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10058350	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10058374	0.83[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10070751	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10074873	0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075647	0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10076858	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10214190	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805667	0.83[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941611	0.86[ASN][1000 genomes]
rs11740797	0.88[JPT][hapmap]
rs11748187	0.84[JPT][hapmap]
rs12109075	0.88[YRI][hapmap]
rs13173064	0.82[JPT][hapmap]
rs13176429	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13665	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532330	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1532331	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17301375	0.84[JPT][hapmap]
rs316405	0.88[JPT][hapmap]
rs316411	0.88[JPT][hapmap]
rs33910990	0.93[ASN][1000 genomes]
rs35953019	0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs3733839	0.88[JPT][hapmap]
rs4498259	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs479996	0.87[ASN][1000 genomes]
rs4866808	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866971	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs511340	0.82[ASN][1000 genomes]
rs541143	0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs6414900	0.82[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6451672	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6451674	0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451675	0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670206	0.88[JPT][hapmap]
rs67913249	0.83[ASN][1000 genomes]
rs6862639	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6864955	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6870418	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6871636	0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]
rs6876746	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6884303	0.83[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6894506	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs7701510	0.88[YRI][hapmap]
rs7709181	0.88[JPT][hapmap]
rs7712046	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723426	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7729529	0.84[JPT][hapmap]
rs7730004	0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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
rs10078527	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43178000-43193200	Weak transcription	Hela-S3	cervix
2	chr5:43190200-43193200	Enhancers	Fetal Heart	heart
3	chr5:43191000-43193800	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:43191000-43194200	Active TSS	Brain Anterior Caudate	brain
5	chr5:43191200-43194200	Active TSS	NHDF-Ad	bronchial
6	chr5:43191200-43194400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:43191200-43194800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:43191600-43193200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr5:43191600-43193600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:43191600-43193800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:43191600-43193800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:43191600-43194000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:43191600-43194000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
14	chr5:43191600-43194600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:43191600-43194800	Active TSS	Brain Angular Gyrus	brain
16	chr5:43191800-43193200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr5:43191800-43193200	Flanking Active TSS	Esophagus	oesophagus
18	chr5:43191800-43193200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
19	chr5:43191800-43193200	Flanking Active TSS	Pancreas	Pancrea
20	chr5:43191800-43193200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr5:43191800-43193400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
24	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:43191800-43193400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr5:43191800-43193400	Flanking Bivalent TSS/Enh	Thymus	Thymus
27	chr5:43191800-43193600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:43191800-43193600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:43191800-43193600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr5:43191800-43193600	Active TSS	Colon Smooth Muscle	Colon
31	chr5:43191800-43193600	Active TSS	Gastric	stomach
32	chr5:43191800-43193600	Active TSS	Psoas Muscle	Psoas
33	chr5:43191800-43193800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:43191800-43193800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr5:43191800-43193800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr5:43191800-43194200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr5:43191800-43195000	Active TSS	Brain Substantia Nigra	brain
38	chr5:43192000-43193200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:43192000-43193200	Flanking Active TSS	Lung	lung
40	chr5:43192000-43193400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
41	chr5:43192000-43193400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr5:43192000-43193400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:43192000-43193400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr5:43192000-43193600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr5:43192000-43193800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:43192000-43193800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
47	chr5:43192000-43193800	Active TSS	Stomach Mucosa	stomach
48	chr5:43192000-43194000	Active TSS	Aorta	Aorta
49	chr5:43192000-43194000	Active TSS	Fetal Brain Female	brain
50	chr5:43192000-43194200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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