Variant report

Variant	rs17092030
Chromosome Location	chr8:19971895-19971896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:19971210-19972013	A549	lung:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
2	CTCF	chr8:19971184-19971913	SK-N-SH	brain:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
3	CTCF	chr8:19971296-19971911	HCT-116	colon:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19797802..19799354-chr8:19971667..19974269,2	K562	blood:

Variant related genes	Relation type
RPL30P9	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1039121	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11204090	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17092018	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6586895	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6991468	0.91[CEU][hapmap];0.96[EUR][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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033931	chr8:19954428-19979303	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19963800-19972200	Weak transcription	Right Ventricle	heart
2	chr8:19969200-19976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:19969800-19975000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:19969800-19976800	Weak transcription	Hela-S3	cervix
5	chr8:19970000-19977400	Weak transcription	Right Atrium	heart
6	chr8:19970400-19976800	Weak transcription	Left Ventricle	heart
7	chr8:19971200-19972200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:19971200-19972600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:19971200-19972800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:19971400-19972400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:19971400-19972400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:19971400-19973600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:19971400-19976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:19971400-19976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:19971400-19976800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:19971400-19977400	Weak transcription	Psoas Muscle	Psoas
17	chr8:19971600-19972600	Weak transcription	Fetal Heart	heart
18	chr8:19971600-19972800	Weak transcription	Adipose Nuclei	Adipose
19	chr8:19971600-19974200	Weak transcription	Placenta	Placenta
20	chr8:19971600-19977800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:19971800-19973200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:19971800-19973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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