Variant report

Variant	rs330936
Chromosome Location	chr8:9014003-9014004
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9006856..9010169-chr8:9013580..9016640,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERI1-2	chr8:9013662-9014121	XLOC_006704

Variant related genes	Relation type
ENSG00000253426	Chromatin interaction
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs19334	0.91[EUR][1000 genomes]
rs330929	0.91[EUR][1000 genomes]
rs330930	0.84[EUR][1000 genomes]
rs330933	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs330934	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330935	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330937	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs330938	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs330939	0.84[AMR][1000 genomes]
rs330940	0.84[AMR][1000 genomes]
rs330941	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	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
9	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
10	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs330936	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs330936	SGK223	cis	Thyroid	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9009000-9016200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:9009000-9016800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:9009400-9017000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:9009400-9039000	Weak transcription	Pancreas	Pancrea
5	chr8:9010400-9015000	Weak transcription	Fetal Lung	lung
6	chr8:9010600-9015400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr8:9010600-9015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:9010600-9017200	Weak transcription	Right Atrium	heart
9	chr8:9010800-9016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:9010800-9016800	Weak transcription	Fetal Intestine Small	intestine
11	chr8:9010800-9018200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:9012400-9015000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr8:9012400-9017200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:9012400-9018600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:9012400-9022000	Weak transcription	Fetal Intestine Large	intestine
16	chr8:9012600-9014400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr8:9013000-9015400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:9013000-9015600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:9013200-9014200	Enhancers	Left Ventricle	heart
20	chr8:9013200-9014400	Enhancers	Fetal Muscle Leg	muscle
21	chr8:9013200-9015600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:9013400-9014200	Enhancers	Liver	Liver
23	chr8:9013600-9015400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:9013800-9015400	Weak transcription	Psoas Muscle	Psoas
25	chr8:9013800-9016400	Enhancers	Fetal Heart	heart
26	chr8:9013800-9018200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:9014000-9014200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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