Variant report

Variant	rs6951643
Chromosome Location	chr7:126429517-126429518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126424654..126426414-chr7:126428939..126431035,2	K562	blood:
2	chr7:126427196..126429754-chr7:126431712..126435448,3	K562	blood:
3	7:126085913-126088095..7:126429477-126435211	GM12878	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1008260	0.96[CEU][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10215498	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10215590	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10216287	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10216314	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10227255	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10227949	0.85[JPT][hapmap]
rs10229765	1.00[JPT][hapmap]
rs10239010	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10241618	1.00[JPT][hapmap]
rs10250459	0.96[CEU][hapmap]
rs10252649	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10254445	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs10254692	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10257388	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10259217	0.86[JPT][hapmap]
rs10259229	0.86[JPT][hapmap]
rs10271146	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10487457	0.86[JPT][hapmap]
rs10487459	0.86[JPT][hapmap]
rs10487460	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs10954133	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11763603	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs11763734	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs11765100	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11768413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11769307	0.85[JPT][hapmap]
rs11769459	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs11769491	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs11770578	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs11773772	0.95[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12333442	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12333645	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12706742	1.00[JPT][hapmap]
rs12706745	0.86[JPT][hapmap]
rs12706746	1.00[JPT][hapmap]
rs12706747	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13222700	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs13224779	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13225829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13226065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13226841	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs13236505	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13239613	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13240076	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13240418	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13242233	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1361988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1361995	0.86[JPT][hapmap]
rs1361998	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1361999	0.81[EUR][1000 genomes]
rs1362000	0.92[CEU][hapmap]
rs1362002	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1362004	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1362005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1419508	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs1557646	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs1592370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17150172	0.86[JPT][hapmap]
rs17619947	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs17620189	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17620525	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs17626816	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17627206	1.00[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17683174	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17683391	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17693362	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1946109	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1946114	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1946115	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1989849	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1989850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2023733	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs2023734	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2023735	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2106352	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2106600	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs2106601	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2157753	0.95[GIH][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2157977	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs2157978	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs2157979	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2214159	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2283071	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs2283076	0.85[JPT][hapmap]
rs2283079	1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs2299501	0.86[JPT][hapmap]
rs2299502	0.85[JPT][hapmap]
rs2299503	0.86[JPT][hapmap]
rs2299505	0.86[JPT][hapmap]
rs2299506	0.86[JPT][hapmap]
rs2299507	0.86[JPT][hapmap]
rs2299508	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs2299509	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2299510	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2299511	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2299516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299517	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299518	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299519	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299520	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2896376	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs34309246	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35810597	0.84[ASN][1000 genomes]
rs35825148	0.80[EUR][1000 genomes]
rs35864494	0.81[ASN][1000 genomes]
rs3808154	0.85[JPT][hapmap]
rs4728053	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4728054	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4728055	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731323	1.00[JPT][hapmap]
rs4731330	1.00[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4731331	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4731332	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467099	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6948500	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6951771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969572	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6975541	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6976213	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727903	0.96[CEU][hapmap]
rs7809518	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs886179	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs929175	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs929211	0.96[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs950789	0.85[JPT][hapmap]
rs954661	1.00[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap]

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	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032612	chr7:126417533-126456282	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6951643	CPA1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126429000-126429600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr7:126429200-126431400	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:126429400-126429800	Enhancers	Brain Cingulate Gyrus	brain
4	chr7:126429400-126431400	Weak transcription	Brain Substantia Nigra	brain

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