Variant report

Variant	rs7590388
Chromosome Location	chr2:101042122-101042123
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101041152..101044058-chr2:101179314..101180934,2	K562	blood:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10183150	0.84[EUR][1000 genomes]
rs10186134	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10193204	0.85[EUR][1000 genomes]
rs1030901	0.85[EUR][1000 genomes]
rs1030902	0.82[EUR][1000 genomes]
rs1114595	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11674569	0.81[EUR][1000 genomes]
rs11674830	0.83[EUR][1000 genomes]
rs11683088	0.85[EUR][1000 genomes]
rs11691684	0.81[EUR][1000 genomes]
rs12373827	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12991577	0.82[EUR][1000 genomes]
rs1437967	0.87[EUR][1000 genomes]
rs1437969	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1530030	0.82[EUR][1000 genomes]
rs1530031	0.86[EUR][1000 genomes]
rs1811415	0.81[EUR][1000 genomes]
rs1837143	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2099611	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2241809	0.82[EUR][1000 genomes]
rs2241810	0.82[EUR][1000 genomes]
rs2241811	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2309800	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2309852	0.80[EUR][1000 genomes]
rs3748930	0.86[EUR][1000 genomes]
rs3828193	0.84[EUR][1000 genomes]
rs4149505	0.84[EUR][1000 genomes]
rs4149507	0.84[EUR][1000 genomes]
rs4149510	0.82[EUR][1000 genomes]
rs4149512	0.83[EUR][1000 genomes]
rs4149513	0.82[EUR][1000 genomes]
rs4149517	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4149518	0.82[EUR][1000 genomes]
rs4149523	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4340543	0.85[EUR][1000 genomes]
rs4378827	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4387816	0.80[EUR][1000 genomes]
rs4407265	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4640404	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850929	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4850930	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4850931	0.85[EUR][1000 genomes]
rs4851288	0.85[EUR][1000 genomes]
rs4851303	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4851310	0.80[EUR][1000 genomes]
rs4851311	0.80[EUR][1000 genomes]
rs4851312	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851313	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62148360	0.81[EUR][1000 genomes]
rs6542940	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6542942	0.84[EUR][1000 genomes]
rs6542944	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6542947	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6737217	0.82[EUR][1000 genomes]
rs6749018	0.87[EUR][1000 genomes]
rs6754176	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7585582	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs930374	0.87[EUR][1000 genomes]
rs9973536	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1011990	chr2:101039956-101105648	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv961460	chr2:101041682-101042779	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101034600-101043000	Weak transcription	Placenta	Placenta
2	chr2:101034800-101043800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:101040800-101042200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:101041000-101044400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:101041600-101043200	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:101042000-101042800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:101042000-101043000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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