Variant report

Variant	rs4866808
Chromosome Location	chr5:43180535-43180536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10041458	0.80[ASN][1000 genomes]
rs10044382	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057588	0.81[ASN][1000 genomes]
rs10058350	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10058374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10070751	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074873	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075647	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.80[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10076858	0.89[EUR][1000 genomes]
rs10078527	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs10214190	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10805667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10941607	0.87[JPT][hapmap]
rs10941608	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs10941611	0.88[ASN][1000 genomes]
rs11550287	0.87[JPT][hapmap]
rs11740797	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs11748187	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12188691	0.87[JPT][hapmap]
rs13173064	0.87[JPT][hapmap]
rs13176429	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13665	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532330	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1532331	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17301375	0.94[JPT][hapmap]
rs316398	0.81[JPT][hapmap]
rs316405	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs316411	0.94[JPT][hapmap]
rs33910990	0.91[ASN][1000 genomes]
rs35953019	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3733839	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs3849699	0.87[JPT][hapmap]
rs4498259	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479996	0.89[ASN][1000 genomes]
rs4866971	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs511340	0.84[ASN][1000 genomes]
rs541143	0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs6414900	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6451672	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6451674	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6451675	0.88[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs670206	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs67913249	0.81[ASN][1000 genomes]
rs6862639	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864955	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870418	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6871636	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6876746	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884303	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6894506	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7701510	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs7709181	0.94[JPT][hapmap]
rs7712046	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7723426	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7729529	0.94[JPT][hapmap]
rs7730004	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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
rs4866808	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
2	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
4	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:43164400-43191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:43165000-43191200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:43175000-43180800	Weak transcription	Colonic Mucosa	Colon
8	chr5:43175000-43191800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:43175200-43180600	Weak transcription	Lung	lung
10	chr5:43175200-43180800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:43175200-43180800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:43175200-43180800	Weak transcription	Spleen	Spleen
13	chr5:43175200-43181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:43175200-43182000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:43175200-43182200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:43175200-43183600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:43175200-43190200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:43175200-43191000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:43175200-43191000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:43175200-43191000	Weak transcription	Brain Anterior Caudate	brain
21	chr5:43175200-43191000	Weak transcription	Ovary	ovary
22	chr5:43175200-43191000	Weak transcription	NHLF	lung
23	chr5:43175200-43191200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:43175200-43191200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:43175200-43191200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:43175200-43191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:43175200-43191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:43175200-43192000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:43175400-43181000	Weak transcription	Gastric	stomach
30	chr5:43175400-43181200	Weak transcription	Placenta	Placenta
31	chr5:43175400-43185000	Weak transcription	Psoas Muscle	Psoas
32	chr5:43175400-43190600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:43175400-43191000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:43175400-43191400	Weak transcription	Fetal Brain Female	brain
35	chr5:43175400-43191400	Weak transcription	Fetal Kidney	kidney
36	chr5:43175400-43191600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:43175400-43191800	Weak transcription	Left Ventricle	heart
38	chr5:43175400-43191800	Weak transcription	Pancreas	Pancrea
39	chr5:43175400-43191800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:43175400-43192200	Weak transcription	HSMM	muscle
41	chr5:43175800-43184000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:43175800-43191400	Weak transcription	Brain Germinal Matrix	brain
43	chr5:43175800-43191600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:43176000-43180600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:43176000-43191800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:43176800-43183800	Weak transcription	Fetal Intestine Large	intestine
47	chr5:43176800-43192200	Weak transcription	HSMMtube	muscle
48	chr5:43177800-43189800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:43177800-43191600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:43178000-43182600	Weak transcription	Dnd41	blood

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