Variant report

Variant	rs62512601
Chromosome Location	chr8:67462646-67462647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67452935..67455806-chr8:67461295..67463229,2	K562	blood:
2	chr8:67410801..67413785-chr8:67462078..67464803,2	K562	blood:
3	chr8:67461060..67462756-chr8:67468899..67471441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206949	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12547831	0.83[AMR][1000 genomes]
rs62512598	0.92[AMR][1000 genomes]
rs62512599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012434	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67455000-67464400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:67455000-67464800	Weak transcription	Psoas Muscle	Psoas
3	chr8:67455000-67468000	Weak transcription	Left Ventricle	heart
4	chr8:67460200-67464800	Weak transcription	NHEK	skin
5	chr8:67460400-67464600	Enhancers	Dnd41	blood
6	chr8:67460600-67472000	Weak transcription	NHLF	lung
7	chr8:67461000-67462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:67461000-67462800	Weak transcription	Fetal Thymus	thymus
9	chr8:67461200-67466200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:67461200-67472000	Weak transcription	A549	lung
11	chr8:67461400-67462800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:67461400-67462800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:67461400-67462800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:67461400-67471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:67461600-67464000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:67461600-67465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:67461600-67466400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:67461600-67471600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:67461800-67463200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:67461800-67466200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:67461800-67466200	Weak transcription	HSMMtube	muscle
22	chr8:67461800-67466400	Weak transcription	HSMM	muscle
23	chr8:67461800-67467800	Weak transcription	NH-A	brain
24	chr8:67462000-67463800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:67462200-67463200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:67462200-67463200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:67462400-67462800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:67462600-67463600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:67462600-67463600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:67462600-67463800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:67462600-67464000	Enhancers	Primary T cells from cord blood	blood

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