Variant report

Variant	rs702289
Chromosome Location	chr6:142869135-142869136
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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1070576	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1070577	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1098071	0.94[ASN][1000 genomes]
rs13217677	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs171913	0.94[ASN][1000 genomes]
rs171914	0.99[ASN][1000 genomes]
rs263114	0.94[ASN][1000 genomes]
rs263120	0.88[ASN][1000 genomes]
rs263121	0.88[ASN][1000 genomes]
rs263154	0.84[ASN][1000 genomes]
rs263166	0.86[ASN][1000 genomes]
rs263175	1.00[ASN][1000 genomes]
rs2664050	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6906209	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs702290	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs702291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs702292	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs702293	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs702294	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs702295	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs702296	0.93[ASN][1000 genomes]
rs702298	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7762733	0.80[AFR][1000 genomes]
rs863432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9390007	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9390009	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9496420	0.81[AMR][1000 genomes];0.83[ASN][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	chr6:142864400-142869400	Weak transcription	HMEC	breast
2	chr6:142864400-142871800	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:142864400-142872000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:142864400-142872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:142864400-142872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:142864400-142872200	Weak transcription	NHEK	skin
7	chr6:142866800-142869400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:142866800-142869600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:142866800-142871800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:142867000-142869400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:142867000-142869600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:142867000-142869800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:142867200-142869800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:142867200-142871800	Weak transcription	Fetal Thymus	thymus
15	chr6:142867400-142869400	Weak transcription	Primary T cells from cord blood	blood
16	chr6:142867400-142869400	Weak transcription	Dnd41	blood

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