Variant report

Variant	rs4712970
Chromosome Location	chr6:25770707-25770708
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	chr6:25767961..25771159-chr6:25772912..25775982,3	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10946793	0.95[CEU][hapmap]
rs1141034	0.86[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1165155	0.86[CEU][hapmap]
rs1165156	0.86[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap]
rs1165157	0.86[CEU][hapmap]
rs1165208	0.86[CEU][hapmap]
rs1165211	0.86[CEU][hapmap]
rs11794	0.95[CEU][hapmap];0.88[JPT][hapmap]
rs1185976	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs12190612	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12192077	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12194699	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12203927	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12209856	0.86[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs12215823	0.88[JPT][hapmap]
rs12529272	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12662869	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12663099	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1317510	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1317816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317817	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1318016	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408271	0.81[CEU][hapmap]
rs1575535	0.86[CEU][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17267614	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17320090	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1892245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892246	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892248	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892254	0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1892255	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1937127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937129	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1937131	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1937132	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2000350	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070642	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs2096386	0.95[GIH][hapmap]
rs2154218	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275904	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2275905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35969734	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3778272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922681	1.00[CEU][hapmap]
rs3922699	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3922842	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3923	0.97[GIH][hapmap]
rs3923725	0.95[CEU][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4077878	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4131670	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4132072	0.95[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4145216	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4145217	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4145218	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4360119	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4360128	0.95[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4464787	0.91[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711093	0.95[CEU][hapmap]
rs4711094	0.82[EUR][1000 genomes]
rs4711095	0.95[CEU][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4711096	0.95[CEU][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4711097	0.95[CEU][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4711098	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711099	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711100	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711101	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4711102	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711103	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4711104	0.86[AMR][1000 genomes]
rs4712957	0.81[EUR][1000 genomes]
rs4712959	0.95[CEU][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4712960	0.95[CEU][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4712961	0.95[CEU][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4712963	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4712964	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4712965	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4712967	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4712968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712971	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61297482	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6456694	0.95[CEU][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs6456696	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6456697	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6456699	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6912391	0.93[JPT][hapmap]
rs6923839	0.80[EUR][1000 genomes]
rs6924782	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6924794	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6926425	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6937800	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941933	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7450798	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7453371	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7746609	0.81[EUR][1000 genomes]
rs7749149	0.92[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754296	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7754733	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7754814	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7765833	0.82[EUR][1000 genomes]
rs7769908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772382	0.81[EUR][1000 genomes]
rs7775354	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9348692	0.95[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs9348694	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9348695	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348696	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9356984	0.95[CEU][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9356985	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9356986	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9356987	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9356988	0.95[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9356989	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9358871	0.95[CEU][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9358872	0.95[CEU][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9358873	0.95[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9358875	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9358876	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9358877	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9358878	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9358879	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9358880	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9358881	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9358883	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9358884	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9358885	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9358886	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9358887	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9358888	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9366627	1.00[CEU][hapmap]
rs9366628	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9366629	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9379778	0.95[CEU][hapmap]
rs9379781	0.80[EUR][1000 genomes]
rs9379782	0.81[EUR][1000 genomes]
rs9379783	0.95[CEU][hapmap];0.88[JPT][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9379784	0.95[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9379785	0.95[CEU][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9379786	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9379788	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9379789	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9379791	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9393655	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9393656	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9393658	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9393659	0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9393661	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9393662	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9393663	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9393665	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9393670	0.86[CHB][hapmap]
rs9393671	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers 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	1215 gene(s)	inside rSNPs	diseases
3	nsv427747	chr6:25641380-25908218	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv969355	chr6:25733459-25779530	Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4712970	HIST1H1C	cis	parietal	SCAN
rs4712970	HIST1H2BF	cis	parietal	SCAN
rs4712970	SCGN	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25758600-25777200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:25762200-25780400	Strong transcription	Liver	Liver
3	chr6:25765000-25773200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:25768800-25770800	Enhancers	Placenta	Placenta
5	chr6:25768800-25771200	Strong transcription	Fetal Intestine Large	intestine
6	chr6:25768800-25771800	Strong transcription	Fetal Intestine Small	intestine
7	chr6:25769000-25770800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:25769800-25772600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:25770200-25770800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:25770400-25770800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:25770400-25771800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr6:25770600-25770800	Genic enhancers	Pancreas	Pancrea

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