Variant report

Variant	rs7715782
Chromosome Location	chr5:43566930-43566931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43566373..43570038-chr5:43599893..43602969,4	K562	blood:
2	chr5:43553205..43562648-chr5:43565710..43576086,17	K562	blood:
3	chr5:43565730..43567318-chr5:43568871..43570663,2	K562	blood:
4	chr5:43566514..43568938-chr5:43571221..43572820,2	K562	blood:
5	chr5:43564714..43567873-chr5:43601188..43604304,3	K562	blood:

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000112992	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10036954	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs10038608	0.96[MEX][hapmap]
rs10042992	0.96[MEX][hapmap]
rs10053229	0.86[ASN][1000 genomes]
rs10055801	1.00[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap]
rs10057103	0.95[MEX][hapmap]
rs10058558	0.96[MEX][hapmap]
rs10059912	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10059993	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10061165	0.96[MEX][hapmap]
rs10065689	0.87[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10065863	0.96[MEX][hapmap]
rs10066408	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10068064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10074682	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs10462051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11949083	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11952832	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11958046	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12187908	0.85[JPT][hapmap]
rs12332560	0.98[ASN][1000 genomes]
rs12521249	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12651879	0.96[ASN][1000 genomes]
rs12652547	0.96[MEX][hapmap]
rs12697457	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13189004	0.95[MEX][hapmap]
rs13189484	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13359906	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13360902	0.91[EUR][1000 genomes]
rs1366410	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1389868	1.00[JPT][hapmap]
rs1593971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2131998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2172763	0.95[MEX][hapmap]
rs28437972	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28606458	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3776423	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs3806870	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4072918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4072919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073848	0.96[MEX][hapmap]
rs4074777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4331909	0.94[ASN][1000 genomes]
rs4367306	0.96[MEX][hapmap]
rs4386738	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4428418	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4467713	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs4535459	0.81[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4610465	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4866752	0.95[MEX][hapmap]
rs4866833	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[ASN][1000 genomes]
rs4866835	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55667604	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55855322	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56008952	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56097465	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56252541	0.80[ASN][1000 genomes]
rs56333629	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57403343	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59001943	0.94[ASN][1000 genomes]
rs59224335	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60297702	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451695	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6451696	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs6451697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6451698	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs6451699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6451705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs6451706	0.95[MEX][hapmap]
rs6451712	0.94[ASN][1000 genomes]
rs6451718	0.96[MEX][hapmap]
rs67261887	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67466542	0.86[ASN][1000 genomes]
rs67581152	0.96[ASN][1000 genomes]
rs6860493	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6862102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6866325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6866802	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869933	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6870018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6878770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs6884661	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6885679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6891363	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6896693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs6898866	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72756535	0.86[ASN][1000 genomes]
rs750582	0.96[MEX][hapmap]
rs750583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs754301	0.82[CHB][hapmap]
rs7703662	0.96[CEU][hapmap]
rs7705166	0.85[CHB][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7706431	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7708369	0.96[MEX][hapmap]
rs7710628	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7713479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7717636	0.98[ASN][1000 genomes]
rs7718627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7732656	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7736108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7736615	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737793	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9687341	0.89[ASN][1000 genomes]
rs9885189	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7715782	YY2	trans	cerebellum	SCAN
rs7715782	NNT	cis	cerebellum	SCAN
rs7715782	NNT	Cis_1M	lymphoblastoid	RTeQTL
rs7715782	C5orf34	cis	parietal	SCAN
rs7715782	HSD11B1L	trans	cerebellum	SCAN
rs7715782	NNT	cis	multi-tissue	Pritchard
rs7715782	NNT	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
3	chr5:43560200-43584400	Weak transcription	K562	blood
4	chr5:43562000-43570400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:43563600-43568200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:43564000-43574800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:43564600-43571000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:43564600-43575000	Weak transcription	Fetal Stomach	stomach
9	chr5:43564600-43580200	Weak transcription	Fetal Kidney	kidney
10	chr5:43564800-43570800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:43564800-43571000	Weak transcription	NHDF-Ad	bronchial
12	chr5:43564800-43575400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:43565200-43572600	Weak transcription	Hela-S3	cervix
14	chr5:43565400-43579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
16	chr5:43565600-43575000	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:43565600-43581800	Weak transcription	Dnd41	blood
18	chr5:43566200-43590400	Weak transcription	Thymus	Thymus
19	chr5:43566400-43580200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:43566800-43586000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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