Variant report

Variant	rs263172
Chromosome Location	chr6:142869410-142869411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142865194..142866984-chr6:142867899..142870428,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1098071	0.84[EUR][1000 genomes]
rs166401	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs171913	0.86[EUR][1000 genomes]
rs183799	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs187810	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs190522	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs190523	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs196353	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2077836	0.83[EUR][1000 genomes]
rs263103	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs263104	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs263105	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs263107	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs263113	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs263114	0.84[EUR][1000 genomes]
rs263115	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs263116	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs263119	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs263120	0.82[EUR][1000 genomes]
rs263121	0.82[EUR][1000 genomes]
rs263122	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263130	0.83[EUR][1000 genomes]
rs263154	0.81[EUR][1000 genomes]
rs263155	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs263156	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs263165	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs263166	0.82[EUR][1000 genomes]
rs263167	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs263168	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs263171	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs263174	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263176	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs605790	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs839554	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs839556	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023426	chr6:142813845-142940262	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830827	chr6:142840734-143015005	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv520479	chr6:142869099-142908146	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142864400-142871800	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:142864400-142872000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:142864400-142872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:142864400-142872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:142864400-142872200	Weak transcription	NHEK	skin
6	chr6:142866800-142869600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:142866800-142871800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:142867000-142869600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:142867000-142869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:142867200-142869800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:142867200-142871800	Weak transcription	Fetal Thymus	thymus
12	chr6:142869400-142869800	Enhancers	HMEC	breast
13	chr6:142869400-142870600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:142869400-142872200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:142869400-142872400	Enhancers	Primary T cells from cord blood	blood
16	chr6:142869400-142872800	Enhancers	Dnd41	blood

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