Variant report

Variant	rs17243165
Chromosome Location	chr5:43145154-43145155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43120548..43122951-chr5:43143823..43146753,2	K562	blood:
2	chr5:43127309..43129273-chr5:43143487..43145266,2	K562	blood:
3	chr5:43139797..43142277-chr5:43144323..43146274,2	K562	blood:
4	chr5:43136449..43140275-chr5:43142558..43146191,4	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1001717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652363	0.93[ASN][1000 genomes]
rs12653864	0.90[JPT][hapmap]
rs12654798	0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12657208	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12659721	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13153077	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13153860	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13154654	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13158800	0.88[EUR][1000 genomes]
rs13159390	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161127	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13164183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13164889	1.00[CHB][hapmap]
rs13166780	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167375	0.82[CEU][hapmap]
rs13167690	0.94[EUR][1000 genomes]
rs13171253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172378	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174772	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13178478	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13181290	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182652	1.00[ASN][1000 genomes]
rs13186091	0.87[EUR][1000 genomes]
rs13186549	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13189565	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13189574	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190109	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16873177	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17242731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17242995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17243023	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17243086	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17243515	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17302596	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302931	0.81[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs186322	0.90[JPT][hapmap]
rs2005510	0.89[EUR][1000 genomes]
rs2291632	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28548198	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34071473	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34205479	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34242142	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34258100	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34302880	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34333393	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34375419	0.94[EUR][1000 genomes]
rs34448278	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34552214	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34973629	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34992478	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35018789	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35106307	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35199583	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35230086	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35285338	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35321959	0.84[EUR][1000 genomes]
rs35397154	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35484826	0.89[EUR][1000 genomes]
rs35593061	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35645372	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35665483	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35673052	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35754881	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35759340	0.85[EUR][1000 genomes]
rs35839054	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35855029	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35859204	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35949944	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35998500	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36054188	0.93[EUR][1000 genomes]
rs36106080	0.85[EUR][1000 genomes]
rs36122541	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36125638	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3752831	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3752832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797306	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797307	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797308	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3797309	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56889091	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56923657	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58028166	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs585302	0.90[JPT][hapmap]
rs632730	0.82[CEU][hapmap]
rs67190423	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67596313	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67756718	0.93[EUR][1000 genomes]
rs71590635	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627575	0.89[EUR][1000 genomes]
rs71627578	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627579	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627580	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627583	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627584	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627585	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627586	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71627587	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72748883	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72748886	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72748897	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750704	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72750764	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750780	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092493	0.93[ASN][1000 genomes]
rs782988	0.92[ASN][1000 genomes]
rs878234	0.82[CEU][hapmap];0.89[EUR][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
rs17243165	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
4	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
6	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
7	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
8	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
9	chr5:43124400-43147400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
11	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:43126600-43154800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:43127600-43178000	Strong transcription	Dnd41	blood
14	chr5:43128000-43151400	Weak transcription	Right Ventricle	heart
15	chr5:43128000-43154600	Weak transcription	Brain Substantia Nigra	brain
16	chr5:43128200-43151000	Weak transcription	Ovary	ovary
17	chr5:43128200-43156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:43128400-43151600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:43128400-43154600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle
22	chr5:43128600-43154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:43128600-43155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:43129000-43161400	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:43130200-43156200	Weak transcription	Gastric	stomach
26	chr5:43131000-43159800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:43131200-43146400	Strong transcription	Hela-S3	cervix
28	chr5:43131400-43147000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:43133000-43152400	Weak transcription	Spleen	Spleen
30	chr5:43133000-43161400	Weak transcription	Esophagus	oesophagus
31	chr5:43133200-43151000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:43133200-43161400	Weak transcription	Fetal Brain Male	brain
33	chr5:43134000-43154600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:43134600-43155000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:43135400-43156400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:43136200-43145800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:43137000-43151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:43137200-43163400	Weak transcription	Fetal Kidney	kidney
39	chr5:43137400-43152400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:43137800-43161000	Weak transcription	HSMM	muscle
41	chr5:43138200-43159000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:43138400-43146800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:43139200-43145200	Strong transcription	Placenta	Placenta
44	chr5:43139200-43145400	Strong transcription	Adipose Nuclei	Adipose
45	chr5:43139400-43145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:43139400-43147200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:43140000-43145600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:43140000-43145800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:43140000-43145800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr5:43140000-43146400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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