Variant report

Variant	rs58271904
Chromosome Location	chr8:19971460-19971461
allele	A/G
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	RAD21	chr8:19971404-19971697	HepG2	liver:	n/a	chr8:19971560-19971579
2	CTCF	chr8:19971329-19971731	A549	lung:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
3	MXI1	chr8:19971052-19971866	IMR90	lung:	n/a	n/a
4	CTCF	chr8:19971390-19971694	K562	blood:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
5	CTCF	chr8:19971340-19971719	H1-hESC	embryonic stem cell:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
6	BRCA1	chr8:19971444-19971736	Hela-S3	cervix:	n/a	n/a
7	YY1	chr8:19971360-19971667	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:19971210-19972013	A549	lung:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
9	CTCF	chr8:19971280-19971822	MCF-7	breast:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
10	CTCF	chr8:19971420-19971570	GM12874	blood:	n/a	n/a
11	RAD21	chr8:19971228-19971835	HCT-116	colon:	n/a	chr8:19971560-19971579
12	CTCF	chr8:19971460-19971610	HepG2	liver:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
13	CTCF	chr8:19971460-19971610	GM12873	blood:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
14	CTCF	chr8:19971460-19971610	WI-38	lung:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
15	RAD21	chr8:19971373-19971843	MCF-7	breast:	n/a	chr8:19971560-19971579
16	CTCF	chr8:19971459-19971696	K562	blood:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
17	CTCF	chr8:19971184-19971913	SK-N-SH	brain:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
18	SMC3	chr8:19971428-19971681	HepG2	liver:	n/a	chr8:19971564-19971578
19	CTCF	chr8:19971453-19971720	LNCaP	prostate:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
20	RAD21	chr8:19971345-19971706	SK-N-SH_RA	brain:	n/a	chr8:19971560-19971579
21	RAD21	chr8:19971321-19971678	ECC-1	luminal epithelium:	n/a	chr8:19971560-19971579
22	CTCF	chr8:19971346-19971786	IMR90	lung:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
23	CTCF	chr8:19971296-19971911	HCT-116	colon:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
24	CTCF	chr8:19971455-19971631	T-47D	breast:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
25	CTCF	chr8:19971309-19971818	HCT-116	colon:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
26	CTCF	chr8:19971456-19971698	LNCaP	prostate:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
27	CTCF	chr8:19971460-19971610	GM12871	blood:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
28	SMC3	chr8:19971317-19971758	Hela-S3	cervix:	n/a	chr8:19971564-19971578
29	RAD21	chr8:19971226-19971879	HCT-116	colon:	n/a	chr8:19971560-19971579
30	CTCF	chr8:19971460-19971610	GM12878	blood:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
31	CTCF	chr8:19971357-19971736	MCF-7	breast:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
32	RAD21	chr8:19971428-19971716	K562	blood:	n/a	chr8:19971560-19971579
33	FOS	chr8:19971354-19971663	MCF10A-Er-Src	breast:	n/a	n/a
34	RAD21	chr8:19971154-19971866	SK-N-SH	brain:	n/a	chr8:19971560-19971579
35	USF2	chr8:19971443-19971604	Hela-S3	cervix:	n/a	n/a
36	RAD21	chr8:19971402-19971707	SK-N-SH_RA	brain:	n/a	chr8:19971560-19971579
37	RAD21	chr8:19971316-19971779	HepG2	liver:	n/a	chr8:19971560-19971579
38	CTCF	chr8:19971358-19971706	H1-hESC	embryonic stem cell:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
39	RAD21	chr8:19971101-19971776	H1-hESC	embryonic stem cell:	n/a	chr8:19971560-19971579
40	RAD21	chr8:19971290-19971696	MCF-7	breast:	n/a	chr8:19971560-19971579
41	CTCF	chr8:19971435-19971680	HepG2	liver:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
42	RAD21	chr8:19971340-19971717	H1-hESC	embryonic stem cell:	n/a	chr8:19971560-19971579
43	SMC3	chr8:19971169-19971863	SK-N-SH	brain:	n/a	chr8:19971564-19971578
44	CTCF	chr8:19971460-19971610	NHEK	skin:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
45	RAD21	chr8:19971390-19971742	HepG2	liver:	n/a	chr8:19971560-19971579
46	CTCF	chr8:19971426-19971734	GM12878	blood:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
47	ZNF143	chr8:19971410-19971728	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr8:19971264-19971849	A549	lung:	n/a	chr8:19971560-19971579
49	CTCF	chr8:19971450-19971715	Gliobla	brain:	n/a	chr8:19971563-19971579 chr8:19971562-19971580 chr8:19971564-19971577 chr8:19971557-19971578
50	CTCF	chr8:19971420-19971570	WI-38	lung:	n/a	n/a

Variant related genes	Relation type
RPL30P9	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17092016	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59291858	1.00[ASN][1000 genomes]
rs7819055	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19963800-19972200	Weak transcription	Right Ventricle	heart
2	chr8:19968200-19971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:19968200-19971600	Enhancers	Placenta	Placenta
4	chr8:19969000-19971600	Enhancers	Fetal Lung	lung
5	chr8:19969200-19976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:19969800-19975000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:19969800-19976800	Weak transcription	Hela-S3	cervix
8	chr8:19970000-19971600	Enhancers	Adipose Nuclei	Adipose
9	chr8:19970000-19977400	Weak transcription	Right Atrium	heart
10	chr8:19970400-19976800	Weak transcription	Left Ventricle	heart
11	chr8:19971000-19971600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19971000-19971600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:19971000-19971600	Enhancers	Fetal Heart	heart
14	chr8:19971000-19971600	Enhancers	Osteobl	bone
15	chr8:19971200-19971600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:19971200-19971600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:19971200-19971600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:19971200-19971600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:19971200-19971800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:19971200-19972200	Enhancers	Fetal Muscle Leg	muscle
21	chr8:19971200-19972600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:19971200-19972800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:19971400-19971600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:19971400-19971800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:19971400-19972400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:19971400-19972400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:19971400-19973600	Enhancers	Primary hematopoietic stem cells	blood
28	chr8:19971400-19976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:19971400-19976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:19971400-19976800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:19971400-19977400	Weak transcription	Psoas Muscle	Psoas

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