Variant report

Variant	rs13007783
Chromosome Location	chr2:233566679-233566680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:233566623-233567013	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:233566125-233566734	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:233564546..233567333-chr2:233571993..233574146,2	K562	blood:
2	chr2:233565184..233567187-chr2:233578536..233582412,3	MCF-7	breast:
3	chr2:233561154..233564737-chr2:233566503..233568685,5	K562	blood:
4	chr2:233562305..233563943-chr2:233565378..233568018,2	MCF-7	breast:

Variant related genes	Relation type
GIGYF2	TF binding region
ENSG00000204120	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1022330	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1044480	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10933409	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10933411	0.80[EUR][1000 genomes]
rs10933412	0.80[EUR][1000 genomes]
rs11555646	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11679079	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11687128	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11690474	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11692545	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12472839	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12474040	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12478564	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12694917	0.80[EUR][1000 genomes]
rs12987513	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12990821	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12991088	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997185	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13003675	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13004406	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008942	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13011298	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13013142	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021246	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13024793	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13035829	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424351	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1446308	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1446310	0.81[ASN][1000 genomes]
rs1446311	0.81[EUR][1000 genomes]
rs1801251	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867778	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2012221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305137	0.80[EUR][1000 genomes]
rs2305141	0.81[ASN][1000 genomes]
rs2592105	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2592113	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2674839	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283466	0.81[ASN][1000 genomes]
rs283468	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs283469	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283471	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs283474	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs283475	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs283476	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283477	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs283479	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283480	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283481	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283484	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283485	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283486	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33980184	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34880628	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35085837	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35212961	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35285732	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35362030	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35395584	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35621474	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36007169	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816334	0.80[EUR][1000 genomes]
rs3817311	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4452130	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4458205	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4517962	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973053	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4973054	0.80[EUR][1000 genomes]
rs4973561	0.81[ASN][1000 genomes]
rs56777991	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6437074	0.80[EUR][1000 genomes]
rs66549961	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67013068	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6714245	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717841	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6724117	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6732136	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6733151	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6738386	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6739638	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6745879	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6746294	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747645	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6748027	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761324	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71421663	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs737028	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7558609	0.86[EUR][1000 genomes]
rs7562712	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7578299	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7587309	0.81[EUR][1000 genomes]
rs7591176	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592717	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7606090	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778166	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9653383	0.91[EUR][1000 genomes]
rs9679089	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs983430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991873	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13007783	C2orf82	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233563200-233567600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:233563200-233569000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:233563200-233572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:233563400-233568600	Weak transcription	Aorta	Aorta
5	chr2:233563400-233569000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:233563800-233567600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:233563800-233567600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:233563800-233582600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:233564000-233568200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:233564000-233568600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:233564000-233568800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:233564000-233570600	Weak transcription	Fetal Kidney	kidney
13	chr2:233564000-233570800	Weak transcription	HSMMtube	muscle
14	chr2:233564000-233579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:233564000-233589000	Weak transcription	NH-A	brain
16	chr2:233564200-233566800	Enhancers	Ovary	ovary
17	chr2:233564200-233567200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:233564200-233567200	Weak transcription	Fetal Thymus	thymus
19	chr2:233564200-233567600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:233564200-233567800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:233564200-233567800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:233564200-233568200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:233564200-233568400	Weak transcription	Colonic Mucosa	Colon
24	chr2:233564200-233568400	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:233564200-233568600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:233564200-233568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:233564200-233568600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:233564200-233568600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:233564200-233568600	Weak transcription	Esophagus	oesophagus
30	chr2:233564200-233568600	Weak transcription	Lung	lung
31	chr2:233564200-233568800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:233564200-233570000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:233564200-233570400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:233564200-233571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:233564200-233596400	Weak transcription	NHLF	lung
36	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:233564400-233567000	Weak transcription	Primary B cells from cord blood	blood
38	chr2:233564400-233568000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:233564600-233567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:233564800-233568800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:233564800-233569400	Weak transcription	Osteobl	bone
42	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:233565000-233567600	Weak transcription	Right Atrium	heart
44	chr2:233565000-233568200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:233565000-233568400	Weak transcription	Gastric	stomach
46	chr2:233565000-233568400	Weak transcription	NHDF-Ad	bronchial
47	chr2:233565000-233568800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
49	chr2:233565200-233567200	Weak transcription	HSMM	muscle
50	chr2:233565200-233567600	Weak transcription	GM12878-XiMat	blood

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