Variant report

Variant	rs1997365
Chromosome Location	chr10:49507975-49507976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49505437..49509227-chr10:49512303..49516954,6	K562	blood:
2	chr10:49506153..49508451-chr10:49513905..49515669,2	MCF-7	breast:
3	chr10:49506365..49508904-chr10:49509611..49511777,2	K562	blood:
4	chr10:49507404..49509732-chr10:49510277..49512510,2	K562	blood:
5	chr10:49442419..49445275-chr10:49506224..49508061,2	K562	blood:
6	chr10:49505338..49509227-chr10:49512971..49515977,6	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10508903	0.80[CHB][hapmap]
rs10745265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776590	0.82[ASN][1000 genomes]
rs10776592	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10776593	0.88[ASN][1000 genomes]
rs10776594	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10776595	0.80[CHB][hapmap]
rs10776596	0.80[CHB][hapmap]
rs10857560	0.80[CHB][hapmap]
rs10857564	1.00[JPT][hapmap]
rs10857565	0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11101280	0.82[ASN][1000 genomes]
rs11101281	0.82[ASN][1000 genomes]
rs11101285	0.87[CEU][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs11101318	0.80[CHB][hapmap]
rs11101320	0.80[CHB][hapmap]
rs11101326	0.80[CHD][hapmap]
rs1112268	0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11597435	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11598320	0.93[JPT][hapmap]
rs12259267	0.89[ASW][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12358297	1.00[JPT][hapmap]
rs17010433	0.89[ASW][hapmap];0.84[LWK][hapmap];0.82[YRI][hapmap]
rs17780725	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1881735	0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1881737	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1881738	0.82[ASN][1000 genomes]
rs1881740	0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1881741	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1919706	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1919707	0.86[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs1919709	0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1919710	0.82[ASN][1000 genomes]
rs1919712	0.80[CHB][hapmap]
rs2141516	0.82[ASN][1000 genomes]
rs2178339	0.86[ASN][1000 genomes]
rs2377140	0.87[ASN][1000 genomes]
rs2377141	0.93[ASN][1000 genomes]
rs2377143	0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2377349	0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2590382	0.82[ASN][1000 genomes]
rs2590383	0.82[ASN][1000 genomes]
rs2590384	0.81[ASN][1000 genomes]
rs2590385	0.82[ASN][1000 genomes]
rs2590386	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2590391	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2698758	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2698768	1.00[JPT][hapmap]
rs2889595	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3827680	0.80[CHB][hapmap]
rs4012930	0.91[ASN][1000 genomes]
rs4354648	0.80[AFR][1000 genomes]
rs4838404	0.94[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap]
rs4838405	0.88[ASN][1000 genomes]
rs4838588	0.86[ASN][1000 genomes]
rs4838590	0.80[CHB][hapmap]
rs6537559	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537561	0.80[CHB][hapmap]
rs7068398	0.94[JPT][hapmap]
rs7072515	0.80[CHB][hapmap]
rs7075976	0.80[CHB][hapmap]
rs7086275	0.80[CHB][hapmap]
rs7097975	0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs7101060	0.80[CHB][hapmap]
rs7898026	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs9284	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1997365	MAPK8	cis	Esophagus Muscularis	GTEx
rs1997365	MAPK8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49496400-49514200	Weak transcription	Right Atrium	heart
2	chr10:49507600-49508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:49507600-49508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:49507600-49508800	Enhancers	Dnd41	blood
5	chr10:49507800-49508000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr10:49507800-49508200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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