Variant report

Variant	rs1919042
Chromosome Location	chr16:31713657-31713658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31713225-31713663	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31469614..31471877-chr16:31713296..31715229,2	K562	blood:
2	chr16:31517989..31521434-chr16:31710261..31713968,8	MCF-7	breast:
3	chr16:31467446..31470732-chr16:31710400..31715735,8	MCF-7	breast:
4	chr16:31468309..31472565-chr16:31709404..31716221,13	MCF-7	breast:
5	chr16:31084135..31087518-chr16:31711748..31714825,3	MCF-7	breast:
6	chr16:31711865..31714581-chr16:31881690..31883987,3	MCF-7	breast:
7	chr16:31711697..31713658-chr16:31714336..31716806,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLUHP3	TF binding region
ENSG00000260472	TF binding region
ENSG00000260568	TF binding region
ENSG00000140691	Chromatin interaction
ENSG00000259874	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000140688	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10871458	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150638	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156903	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12324951	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12447780	0.83[ASN][1000 genomes]
rs12716999	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12717000	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406177	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528319	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534507	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1852666	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1881316	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1919040	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2078924	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2106579	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2106581	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157970	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178179	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2188619	0.87[AMR][1000 genomes]
rs2222754	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2359219	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2359222	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2359226	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359455	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28427454	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4620975	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889553	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889555	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889688	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889689	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4889693	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62054710	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6565267	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6565269	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6565275	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6565278	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565280	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565282	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6565285	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6565286	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565287	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67922432	0.85[AMR][1000 genomes]
rs7188627	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7190730	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7191481	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7206536	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs727349	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8049323	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053712	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8060086	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8062424	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8062902	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916753	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929208	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921546	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9921898	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9928006	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9929892	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930700	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936002	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938037	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1919042	CLUHP3	cis	Whole Blood	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31712400-31714400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:31712600-31713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:31712600-31713800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:31712600-31714200	Weak transcription	Esophagus	oesophagus
5	chr16:31712600-31714200	Weak transcription	Ovary	ovary
6	chr16:31712600-31714400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:31712600-31714600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:31712600-31715000	Weak transcription	Aorta	Aorta
9	chr16:31712600-31724200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:31712600-31724200	Weak transcription	Psoas Muscle	Psoas
11	chr16:31712600-31724200	Weak transcription	HSMM	muscle
12	chr16:31712800-31713800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:31712800-31713800	Enhancers	Pancreas	Pancrea
14	chr16:31712800-31714000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:31712800-31714000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:31712800-31714000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
17	chr16:31712800-31714000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:31712800-31714000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr16:31712800-31714200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:31712800-31714200	Weak transcription	Adipose Nuclei	Adipose
21	chr16:31712800-31714200	Weak transcription	Right Ventricle	heart
22	chr16:31712800-31714200	Weak transcription	A549	lung
23	chr16:31712800-31714400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:31712800-31714400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:31712800-31714400	Transcr. at gene 5' and 3'	HepG2	liver
26	chr16:31712800-31714600	Weak transcription	NHLF	lung
27	chr16:31712800-31714800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr16:31712800-31715400	Weak transcription	Placenta	Placenta
29	chr16:31712800-31724200	Weak transcription	HSMMtube	muscle
30	chr16:31712800-31724200	Weak transcription	NHDF-Ad	bronchial
31	chr16:31712800-31724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:31712800-31724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr16:31713000-31713800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:31713000-31713800	Enhancers	Primary hematopoietic stem cells	blood
35	chr16:31713000-31713800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
36	chr16:31713000-31713800	Weak transcription	Colonic Mucosa	Colon
37	chr16:31713000-31714000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr16:31713000-31714000	Enhancers	Spleen	Spleen
39	chr16:31713000-31714200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:31713000-31714200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:31713000-31714400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:31713000-31714400	Weak transcription	Brain Angular Gyrus	brain
43	chr16:31713000-31714800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:31713000-31714800	Weak transcription	Colon Smooth Muscle	Colon
45	chr16:31713000-31715400	Weak transcription	Fetal Lung	lung
46	chr16:31713000-31716400	Weak transcription	Osteobl	bone
47	chr16:31713000-31724400	Weak transcription	Right Atrium	heart
48	chr16:31713200-31713800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:31713200-31713800	Weak transcription	Primary B cells from cord blood	blood
50	chr16:31713200-31713800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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