Variant report

No.	Distal block	Cell Line	Cell type
1	chr9:100462976..100466831-chr9:100467484..100471759,4	K562	blood:
2	chr9:100470983..100474278-chr9:100563427..100567562,3	MCF-7	breast:
3	chr9:100461347..100463609-chr9:100470360..100473150,2	MCF-7	breast:
4	chr9:100469221..100472408-chr9:100472563..100475555,3	K562	blood:
5	chr9:100471241..100474154-chr9:100481493..100483041,2	K562	blood:

Variant related genes	Relation type
ENSG00000266608	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10116536	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119687	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10120102	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10123969	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983405	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983424	0.95[EUR][1000 genomes]
rs10983428	0.95[EUR][1000 genomes]
rs12344605	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346336	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347253	0.94[EUR][1000 genomes]
rs12349178	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350221	0.95[EUR][1000 genomes]
rs12350946	0.95[EUR][1000 genomes]
rs16923269	0.98[EUR][1000 genomes]
rs16923677	1.00[EUR][1000 genomes]
rs16923815	0.93[EUR][1000 genomes]
rs17335265	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376250	0.91[EUR][1000 genomes]
rs3176639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176748	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284139	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480232	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4617277	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61047578	0.94[EUR][1000 genomes]
rs7031623	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751548	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7849509	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952765	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100462400-100472800	Weak transcription	Brain Substantia Nigra	brain
2	chr9:100466800-100472800	Weak transcription	K562	blood
3	chr9:100467200-100472800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:100467200-100476400	Weak transcription	Fetal Intestine Large	intestine
5	chr9:100468000-100472600	Weak transcription	Hela-S3	cervix
6	chr9:100468000-100476600	Weak transcription	GM12878-XiMat	blood
7	chr9:100468600-100472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:100468600-100473200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:100468800-100472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:100469600-100473000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:100470800-100471400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:100471000-100471400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:100471000-100472800	Enhancers	HepG2	liver
14	chr9:100471200-100471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:100471200-100471400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:100471200-100471400	Bivalent Enhancer	HUVEC	blood vessel
17	chr9:100471200-100471400	Bivalent Enhancer	Osteobl	bone
18	chr9:100471200-100476400	Weak transcription	Fetal Intestine Small	intestine

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