Variant report

Variant	rs60499978
Chromosome Location	chr8:61842827-61842828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61833393..61835829-chr8:61842077..61844406,2	K562	blood:
2	chr8:61835952..61838593-chr8:61841536..61843319,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11984734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58864614	1.00[AMR][1000 genomes]
rs73260590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264714	1.00[AMR][1000 genomes]
rs73685725	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61835400-61843000	Enhancers	Primary hematopoietic stem cells	blood
2	chr8:61840000-61843000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:61840200-61843200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:61840400-61845000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:61840400-61845000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:61840600-61843200	Enhancers	Primary B cells from cord blood	blood
7	chr8:61840600-61843600	Enhancers	Fetal Thymus	thymus
8	chr8:61840600-61845200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:61840800-61843400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:61840800-61844600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:61840800-61845400	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:61841400-61843400	Enhancers	Thymus	Thymus
13	chr8:61841600-61843600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:61842200-61844600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:61842200-61844800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:61842400-61843000	Enhancers	HMEC	breast
17	chr8:61842400-61843400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:61842400-61844400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:61842400-61844800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:61842400-61845200	Enhancers	Primary T cells from cord blood	blood
21	chr8:61842400-61845200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:61842600-61844200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:61842600-61844600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:61842600-61844600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:61842600-61844800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:61842600-61844800	Enhancers	GM12878-XiMat	blood
27	chr8:61842800-61845800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:61842800-61847600	Enhancers	Primary T helper cells PMA-I stimulated	--

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