Variant report

Variant	rs563621
Chromosome Location	chr8:9821674-9821675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1973561	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2661746	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609792	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs688541	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1023834	chr8:9798072-9904788	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021038	chr8:9806824-9842234	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1034165	chr8:9821150-9906812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv539465	chr8:9821150-9906812	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs563621	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs563621	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9819800-9822400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:9819800-9822800	Enhancers	Fetal Brain Male	brain
3	chr8:9819800-9823000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:9820000-9822400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:9820000-9823000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:9820200-9822000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:9820400-9821800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:9820400-9821800	Enhancers	Brain Substantia Nigra	brain
9	chr8:9820400-9822400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:9820600-9821800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:9820600-9821800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:9820600-9822000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:9820600-9822400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:9820800-9821800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:9820800-9821800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:9820800-9821800	Active TSS	Brain Anterior Caudate	brain
17	chr8:9820800-9821800	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr8:9820800-9822000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:9820800-9822400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:9821000-9821800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:9821000-9821800	Flanking Active TSS	Fetal Brain Female	brain
22	chr8:9821200-9821800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:9821200-9822600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:9821400-9821800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr8:9821400-9821800	Active TSS	Brain Cingulate Gyrus	brain
26	chr8:9821600-9821800	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr8:9821600-9821800	Enhancers	Brain Germinal Matrix	brain
28	chr8:9821600-9822000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:9821600-9823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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