Variant report

Variant	rs17100051
Chromosome Location	chr1:77695854-77695855
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	chr1:77690590..77694353-chr1:77694495..77697779,4	K562	blood:
2	chr1:77694564..77696510-chr1:77698043..77700950,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10493600	1.00[JPT][hapmap]
rs10518441	0.96[ASN][1000 genomes]
rs10518551	1.00[JPT][hapmap]
rs10518553	1.00[JPT][hapmap]
rs1098125	1.00[JPT][hapmap]
rs1098130	1.00[JPT][hapmap]
rs12131286	0.92[ASN][1000 genomes]
rs12135905	0.92[ASN][1000 genomes]
rs1253226	1.00[JPT][hapmap]
rs1266316	1.00[JPT][hapmap]
rs12722930	1.00[JPT][hapmap]
rs12723684	1.00[JPT][hapmap]
rs12726581	0.92[ASN][1000 genomes]
rs12733865	1.00[JPT][hapmap]
rs12736701	1.00[JPT][hapmap]
rs12736719	1.00[JPT][hapmap]
rs12737795	1.00[JPT][hapmap]
rs12743614	1.00[JPT][hapmap]
rs12751439	1.00[JPT][hapmap]
rs12755514	1.00[JPT][hapmap]
rs12760157	1.00[JPT][hapmap]
rs1419249	1.00[JPT][hapmap]
rs1502529	1.00[JPT][hapmap]
rs1615806	1.00[JPT][hapmap]
rs17100022	1.00[JPT][hapmap]
rs17100082	0.96[ASN][1000 genomes]
rs17100530	1.00[JPT][hapmap]
rs1721145	1.00[JPT][hapmap]
rs1721151	1.00[JPT][hapmap]
rs17371324	1.00[JPT][hapmap]
rs17379910	1.00[JPT][hapmap]
rs17380099	1.00[JPT][hapmap]
rs1779198	1.00[JPT][hapmap]
rs1829913	1.00[JPT][hapmap]
rs2069225	1.00[JPT][hapmap]
rs2256735	1.00[JPT][hapmap]
rs2647514	1.00[JPT][hapmap]
rs2647515	1.00[JPT][hapmap]
rs2647517	1.00[JPT][hapmap]
rs2647519	1.00[JPT][hapmap]
rs2762882	1.00[JPT][hapmap]
rs2799564	1.00[JPT][hapmap]
rs2882289	1.00[JPT][hapmap]
rs3104461	1.00[JPT][hapmap]
rs34651353	0.96[ASN][1000 genomes]
rs4402168	1.00[JPT][hapmap]
rs6703133	1.00[JPT][hapmap]
rs7415865	1.00[JPT][hapmap]
rs7522727	1.00[JPT][hapmap]
rs839795	1.00[JPT][hapmap]
rs839800	1.00[JPT][hapmap]
rs839808	1.00[JPT][hapmap]
rs839810	1.00[JPT][hapmap]
rs839813	1.00[JPT][hapmap]
rs839818	1.00[JPT][hapmap]
rs839822	1.00[JPT][hapmap]
rs839823	1.00[JPT][hapmap]
rs839826	1.00[JPT][hapmap]
rs839830	1.00[JPT][hapmap]

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	nsv1006887	chr1:77566348-77698128	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv520629	chr1:77584846-77695854	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv525188	chr1:77655651-77695854	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17100051	MSH4	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77686000-77699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77686600-77698200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:77686800-77698000	Weak transcription	HUVEC	blood vessel
4	chr1:77688400-77697600	Weak transcription	Primary T cells from cord blood	blood
5	chr1:77693800-77697600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:77694600-77696800	Enhancers	A549	lung
7	chr1:77695200-77696000	Enhancers	NHDF-Ad	bronchial
8	chr1:77695200-77696600	Enhancers	HSMMtube	muscle
9	chr1:77695400-77696400	Enhancers	Muscle Satellite Cultured Cells	--

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