Variant report

Variant	rs330937
Chromosome Location	chr8:9016482-9016483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9006856..9010169-chr8:9013580..9016640,3	K562	blood:
2	chr8:8925374..8928115-chr8:9014387..9016953,2	MCF-7	breast:
3	chr8:9016096..9018270-chr8:9023869..9025537,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs330933	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330934	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330935	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330936	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs330938	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330939	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs330940	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs330941	0.94[AMR][1000 genomes];0.84[EUR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs330937	RP11-62H7.2	cis	Whole Blood	GTEx
rs330937	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs330937	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9009000-9016800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:9009400-9017000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:9009400-9039000	Weak transcription	Pancreas	Pancrea
4	chr8:9010600-9017200	Weak transcription	Right Atrium	heart
5	chr8:9010800-9016800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:9010800-9016800	Weak transcription	Fetal Intestine Small	intestine
7	chr8:9010800-9018200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:9012400-9017200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:9012400-9018600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:9012400-9022000	Weak transcription	Fetal Intestine Large	intestine
11	chr8:9013800-9018200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:9014200-9021600	Weak transcription	Liver	Liver
13	chr8:9014800-9016600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:9015000-9016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:9015400-9018800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:9015400-9019600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:9015600-9016600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:9015600-9017400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:9015600-9019400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:9015600-9019400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:9015600-9020800	Weak transcription	Psoas Muscle	Psoas
22	chr8:9015800-9019200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:9016000-9016800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:9016000-9017000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:9016000-9017000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:9016200-9016600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:9016200-9016800	Weak transcription	Left Ventricle	heart
28	chr8:9016200-9020800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:9016200-9021000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:9016200-9021200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:9016200-9021400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:9016400-9017400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:9016400-9017400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:9016400-9017400	Enhancers	Adipose Nuclei	Adipose
35	chr8:9016400-9021600	Weak transcription	Fetal Lung	lung

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