Variant report

Variant	rs61174819
Chromosome Location	chr12:60177537-60177538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60175752..60177961-chr12:60179247..60181650,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10431557	0.80[EUR][1000 genomes]
rs10506398	0.83[EUR][1000 genomes]
rs10506399	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877338	0.88[ASN][1000 genomes]
rs11173124	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173126	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173133	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173134	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173137	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11173158	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173159	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12227214	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12227244	0.81[EUR][1000 genomes]
rs12227270	0.81[EUR][1000 genomes]
rs12231311	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231693	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12232002	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812799	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572877	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17572912	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17649424	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17650311	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795884	0.90[ASN][1000 genomes]
rs1795896	0.89[ASN][1000 genomes]
rs2365317	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2365318	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2706295	0.91[ASN][1000 genomes]
rs2706306	0.89[ASN][1000 genomes]
rs2706309	0.90[ASN][1000 genomes]
rs2706319	0.90[ASN][1000 genomes]
rs2711655	0.91[ASN][1000 genomes]
rs2711656	0.92[ASN][1000 genomes]
rs2711659	0.91[ASN][1000 genomes]
rs2711668	0.89[ASN][1000 genomes]
rs2711670	0.90[ASN][1000 genomes]
rs2711672	0.90[ASN][1000 genomes]
rs2711677	0.90[ASN][1000 genomes]
rs2711691	0.91[ASN][1000 genomes]
rs34264510	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34639075	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34785387	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218918	0.86[ASN][1000 genomes]
rs35365387	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35518979	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35971116	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3763980	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583011	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682442	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581274	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66802005	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66861118	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68028492	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133415	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303876	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73111880	0.85[AFR][1000 genomes]
rs7979504	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9705733	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788077	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559101	chr12:60164408-60202218	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv559102	chr12:60164408-60221898	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61174819	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL
rs61174819	RP11-813P10.2	cis	Esophagus Muscularis	GTEx
rs61174819	RP11-813P10.2	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
2	chr12:60152000-60182200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:60159800-60186400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:60160400-60186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:60161200-60181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:60161200-60186800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:60161800-60186000	Weak transcription	Lung	lung
8	chr12:60162600-60186000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:60162800-60184000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:60162800-60186000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:60169200-60178000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:60169200-60178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:60169200-60187000	Weak transcription	Primary B cells from cord blood	blood
14	chr12:60169400-60187600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:60169400-60189200	Weak transcription	Dnd41	blood
16	chr12:60173400-60189400	Weak transcription	Left Ventricle	heart
17	chr12:60174800-60186000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:60175600-60179600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:60176000-60183200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:60176800-60184000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:60176800-60186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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