Variant report

Variant	rs13263364
Chromosome Location	chr8:9044302-9044303
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	chr8:9040629..9042906-chr8:9043135..9044982,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs11774244	1.00[ASN][1000 genomes]
rs11774381	1.00[CHB][hapmap]
rs11775788	1.00[CHB][hapmap]
rs11779660	1.00[CHB][hapmap]
rs11780338	1.00[CHB][hapmap]
rs11781175	1.00[ASN][1000 genomes]
rs11781203	1.00[CHB][hapmap]
rs11784750	1.00[ASN][1000 genomes]
rs13257899	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1530484	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17155334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17155367	1.00[ASN][1000 genomes]
rs17646197	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17658270	1.00[ASN][1000 genomes]
rs17701980	1.00[CHB][hapmap]
rs2170335	1.00[ASN][1000 genomes]
rs2929466	1.00[ASN][1000 genomes]
rs330027	1.00[ASN][1000 genomes]
rs330035	1.00[ASN][1000 genomes]
rs34293316	1.00[ASN][1000 genomes]
rs4840391	1.00[ASN][1000 genomes]
rs4840401	1.00[ASN][1000 genomes]
rs4841121	1.00[ASN][1000 genomes]
rs55651740	1.00[ASN][1000 genomes]
rs55824072	1.00[ASN][1000 genomes]
rs56109025	1.00[ASN][1000 genomes]
rs60551984	1.00[ASN][1000 genomes]
rs62493174	1.00[ASN][1000 genomes]
rs6601282	1.00[CHB][hapmap]
rs6601292	1.00[ASN][1000 genomes]
rs66509095	1.00[ASN][1000 genomes]
rs67915375	1.00[ASN][1000 genomes]
rs6981610	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6982619	1.00[CHB][hapmap]
rs6996374	1.00[ASN][1000 genomes]
rs747749	1.00[ASN][1000 genomes]
rs7826478	1.00[CHB][hapmap]
rs7828944	1.00[ASN][1000 genomes]
rs7830266	1.00[CHB][hapmap]
rs7846007	1.00[CHB][hapmap]
rs895253	1.00[ASN][1000 genomes]
rs9329175	1.00[CHB][hapmap]
rs9329176	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1016574	chr8:9007186-9061281	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv539461	chr8:9007186-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv890339	chr8:9029413-9110822	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv890340	chr8:9029413-9121398	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1025197	chr8:9037251-9116414	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	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
rs13263364	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs13263364	C8orf5	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9028400-9045200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9040600-9045000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:9041000-9045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:9041000-9045000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:9041000-9045400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:9041200-9048200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:9041400-9045400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:9041400-9047800	Weak transcription	Brain Anterior Caudate	brain
9	chr8:9042000-9045400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:9042400-9045600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:9042600-9045200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:9042600-9045600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:9042600-9045600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:9043200-9045000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:9043200-9045400	Weak transcription	K562	blood
16	chr8:9043200-9048000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:9043200-9048800	Weak transcription	Esophagus	oesophagus
18	chr8:9043400-9044600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:9043400-9044800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:9044000-9044800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:9044000-9045000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:9044200-9045000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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