Variant report

Variant	rs2214914
Chromosome Location	chr7:108097983-108097984
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	ZNF143	chr7:108097660-108097999	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107996666..108000210-chr7:108094187..108098858,6	MCF-7	breast:
2	chr7:107998008..108001072-chr7:108096682..108098603,3	MCF-7	breast:
3	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:
4	chr7:107823921..107826218-chr7:108097722..108100120,2	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000091129	Chromatin interaction
ENSG00000266112	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10487859	0.93[EUR][1000 genomes]
rs11973105	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974559	0.90[EUR][1000 genomes]
rs11981670	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12705470	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227836	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13228190	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13229488	0.93[EUR][1000 genomes]
rs13238841	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13245101	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245242	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13307045	0.92[EUR][1000 genomes]
rs13312593	0.92[EUR][1000 genomes]
rs17155828	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17338441	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17338462	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17423043	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17423119	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17424206	0.93[EUR][1000 genomes]
rs194587	0.93[EUR][1000 genomes]
rs2214913	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300048	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2300052	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3202837	0.93[EUR][1000 genomes]
rs33987381	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34218460	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34333829	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34583262	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34814097	0.93[EUR][1000 genomes]
rs34887057	0.93[EUR][1000 genomes]
rs35436957	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35617326	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35880371	0.88[EUR][1000 genomes]
rs40843	0.93[EUR][1000 genomes]
rs40845	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40850	0.93[EUR][1000 genomes]
rs40854	0.90[EUR][1000 genomes]
rs40872	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40875	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40878	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40880	0.88[EUR][1000 genomes]
rs40882	0.82[EUR][1000 genomes]
rs40885	0.88[EUR][1000 genomes]
rs40886	0.88[EUR][1000 genomes]
rs40895	0.89[EUR][1000 genomes]
rs40899	0.88[EUR][1000 genomes]
rs40900	0.88[EUR][1000 genomes]
rs40901	0.88[EUR][1000 genomes]
rs40902	0.88[EUR][1000 genomes]
rs40908	0.88[EUR][1000 genomes]
rs40910	0.87[EUR][1000 genomes]
rs41385644	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4992578	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56145857	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59458537	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60398019	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60426977	0.92[EUR][1000 genomes]
rs6466233	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6466238	0.91[EUR][1000 genomes]
rs66461825	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67027479	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67694466	0.92[EUR][1000 genomes]
rs6947492	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6949637	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955152	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6959023	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6976309	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976649	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976659	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976752	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976776	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976804	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978552	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71213282	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784170	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7786947	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790875	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7806869	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7807737	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807941	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811808	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9649307	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649308	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9785056	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	esv3358442	chr7:108095941-108098489	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2214914	THAP5	cis	Heart Left Ventricle	GTEx
rs2214914	THAP5	cis	Esophagus Muscularis	GTEx
rs2214914	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108095000-108098000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr7:108095200-108098000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:108095200-108098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:108096800-108098000	Enhancers	Fetal Brain Male	brain
5	chr7:108097200-108100000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
7	chr7:108097400-108098000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:108097400-108098000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr7:108097400-108098000	Enhancers	Placenta	Placenta
10	chr7:108097400-108098200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr7:108097400-108100000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:108097600-108098000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr7:108097600-108098000	Weak transcription	Right Ventricle	heart
14	chr7:108097600-108098200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:108097800-108098000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:108097800-108098000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:108097800-108098000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:108097800-108098000	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr7:108097800-108098200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr7:108097800-108098200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:108097800-108098200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:108097800-108098200	Enhancers	Spleen	Spleen
23	chr7:108097800-108098200	Enhancers	A549	lung
24	chr7:108097800-108098400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:108097800-108098400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr7:108097800-108100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:108097800-108100400	Weak transcription	HUVEC	blood vessel
28	chr7:108097800-108101400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:108097800-108101600	Weak transcription	Pancreas	Pancrea
30	chr7:108097800-108103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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