Variant report

Variant	rs8005876
Chromosome Location	chr14:67864761-67864762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1006595	0.86[JPT][hapmap]
rs10129185	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10131175	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs10131212	0.81[CHD][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap]
rs10132093	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10135498	0.82[AMR][1000 genomes]
rs10135903	0.82[CHB][hapmap]
rs10137557	0.86[CHB][hapmap];0.82[AMR][1000 genomes]
rs10138755	0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs10138824	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10139015	0.83[AMR][1000 genomes]
rs10139585	0.85[AMR][1000 genomes]
rs10139684	0.85[AMR][1000 genomes]
rs10139953	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10141180	0.87[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10141879	0.88[ASW][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap]
rs10143251	0.85[AMR][1000 genomes]
rs10144090	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10144122	0.92[ASN][1000 genomes]
rs10144401	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10144417	0.83[CHB][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs10144774	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10146389	0.83[ASN][1000 genomes]
rs10146663	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10147852	0.81[CHD][hapmap];0.87[GIH][hapmap]
rs10149615	0.89[ASN][1000 genomes]
rs10150902	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10431718	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs1044745	0.85[ASN][1000 genomes]
rs1045060	0.83[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10873200	0.87[CEU][hapmap]
rs11158655	0.87[CEU][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.94[MEX][hapmap]
rs12323911	0.87[GIH][hapmap];0.88[MEX][hapmap]
rs12588292	0.87[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.90[ASN][1000 genomes]
rs12588458	0.81[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs12588478	0.80[AMR][1000 genomes]
rs12589671	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs12590065	0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12590956	0.86[CEU][hapmap]
rs13379142	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs13379368	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs1473732	0.81[ASN][1000 genomes]
rs1535491	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs1536271	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs1536272	0.82[AMR][1000 genomes]
rs1536273	0.82[AMR][1000 genomes]
rs1555853	0.83[CHB][hapmap];0.90[GIH][hapmap]
rs17104114	0.84[CHD][hapmap];0.83[GIH][hapmap]
rs17104202	0.81[ASN][1000 genomes]
rs17248526	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs17248616	0.80[CHB][hapmap]
rs17248714	0.82[AMR][1000 genomes]
rs1885590	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.85[ASN][1000 genomes]
rs2031563	0.89[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs2031564	0.86[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2094162	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2146229	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs2146230	0.80[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs2148160	0.81[ASN][1000 genomes]
rs2274335	0.83[CHB][hapmap]
rs2274336	0.82[AMR][1000 genomes]
rs2274338	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs2296560	0.83[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs2296561	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2296562	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2296563	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2319777	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs28422832	0.82[AMR][1000 genomes]
rs28441403	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28456209	0.82[AMR][1000 genomes]
rs28558916	0.82[AMR][1000 genomes]
rs28668536	0.82[AMR][1000 genomes]
rs3759755	0.83[CHB][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs3784085	0.87[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3818467	0.83[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs3818468	0.88[ASW][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3825722	0.82[AMR][1000 genomes]
rs4143909	0.90[JPT][hapmap]
rs4636843	0.95[JPT][hapmap]
rs57154550	0.85[ASN][1000 genomes]
rs57234033	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58257525	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60505324	0.84[ASN][1000 genomes]
rs6573760	0.82[CHD][hapmap]
rs6573763	0.84[JPT][hapmap]
rs6573765	0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6573768	0.89[ASN][1000 genomes]
rs6573769	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6573770	0.81[ASN][1000 genomes]
rs66851210	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67968914	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs68002629	0.89[ASN][1000 genomes]
rs7152903	0.81[ASW][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap]
rs7153350	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7153725	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7154607	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7156441	0.83[CHB][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs7157704	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72476727	0.86[AMR][1000 genomes]
rs73280987	0.83[ASN][1000 genomes]
rs73282707	0.87[ASN][1000 genomes]
rs73284892	0.86[ASN][1000 genomes]
rs8003327	0.92[ASN][1000 genomes]
rs8004148	0.82[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap]
rs8004332	0.87[CHB][hapmap];0.95[GIH][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8004488	0.84[CHD][hapmap]
rs8004864	0.83[CHB][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes]
rs8005756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005900	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8006042	0.87[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8006391	0.83[CHB][hapmap];0.82[AMR][1000 genomes]
rs8006519	0.86[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs8007033	0.83[CHB][hapmap];0.80[CHD][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs8007618	0.83[CHB][hapmap];0.90[GIH][hapmap]
rs8007696	0.89[ASN][1000 genomes]
rs8007866	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs8008443	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs8008619	0.83[CHB][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs8008724	0.83[CHB][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs8015641	0.86[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8015819	0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs8016024	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8016037	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs8019109	0.85[ASN][1000 genomes]
rs8020850	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8021621	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8021896	0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs8021992	0.81[ASN][1000 genomes]
rs9323497	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs960797	0.87[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9743912	0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9743983	0.91[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv1815452	chr14:67862371-67866671	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1822467	chr14:67862371-67866671	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1843609	chr14:67862371-67866671	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
12	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8005876	ATP6V1D	cis	Thyroid	GTEx
rs8005876	ATP6V1D	cis	lung	GTEx
rs8005876	ATP6V1D	cis	lymphoblastoid	seeQTL
rs8005876	EIF2S1	cis	lymphoblastoid	seeQTL
rs8005876	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
2	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
3	chr14:67850200-67878400	Weak transcription	Lung	lung
4	chr14:67852800-67865800	Strong transcription	HMEC	breast
5	chr14:67854200-67872000	Weak transcription	Small Intestine	intestine
6	chr14:67855200-67867400	Strong transcription	NHEK	skin
7	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:67858600-67867400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:67859600-67876600	Weak transcription	Esophagus	oesophagus
10	chr14:67859800-67866600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:67860000-67876400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:67860800-67878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:67862000-67876600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:67862400-67867000	Weak transcription	Colonic Mucosa	Colon
15	chr14:67862800-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:67863200-67864800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:67863400-67875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:67863600-67864800	Enhancers	Fetal Heart	heart
19	chr14:67863600-67867600	Weak transcription	HSMMtube	muscle
20	chr14:67863600-67868200	Weak transcription	Fetal Intestine Large	intestine
21	chr14:67864200-67865200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:67864200-67866600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:67864400-67870200	Weak transcription	Fetal Stomach	stomach
24	chr14:67864600-67865200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:67864600-67866600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:67864600-67866800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:67864600-67872200	Weak transcription	Fetal Intestine Small	intestine

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