Variant report

Variant	rs3110458
Chromosome Location	chr8:104776832-104776833
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	chr8:104776459-104776875	HepG2	liver:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
2	RAD21	chr8:104776495-104776906	Hela-S3	cervix:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
3	ZNF143	chr8:104776596-104776869	K562	blood:	n/a	n/a
4	RAD21	chr8:104776520-104776934	SK-N-SH_RA	brain:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
5	SMC3	chr8:104776548-104776886	HepG2	liver:	n/a	n/a
6	CTCF	chr8:104776452-104777021	HCT-116	colon:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
7	SMC3	chr8:104776556-104776857	K562	blood:	n/a	n/a
8	RAD21	chr8:104776479-104776956	MCF-7	breast:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
9	CTCF	chr8:104776590-104776838	SK-N-SH_RA	brain:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
10	RAD21	chr8:104776433-104776996	HCT-116	colon:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
11	RFX5	chr8:104776502-104776886	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr8:104776256-104777090	SK-N-SH	brain:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
13	RAD21	chr8:104776586-104776848	A549	lung:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
14	RAD21	chr8:104776545-104776898	HepG2	liver:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
15	CTCF	chr8:104776285-104777397	A549	lung:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
16	CTCF	chr8:104776588-104776843	ECC-1	luminal epithelium:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
17	CTCF	chr8:104776408-104776937	MCF-7	breast:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
18	RAD21	chr8:104776423-104776864	MCF-7	breast:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
19	CTCF	chr8:104776519-104776917	K562	blood:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
20	ZNF143	chr8:104776548-104776897	GM12878	blood:	n/a	n/a
21	CTCF	chr8:104776585-104776847	Spleen_OC	spleen:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
22	RAD21	chr8:104776563-104776974	K562	blood:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
23	CTCF	chr8:104776760-104776910	HFF-Myc	foreskin:	n/a	n/a
24	RAD21	chr8:104776530-104776912	GM12878	blood:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
25	CTCF	chr8:104776577-104776834	GM12878	blood:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
26	CTCF	chr8:104776589-104776837	HUVEC	blood vessel:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
27	SMC3	chr8:104776528-104776914	Hela-S3	cervix:	n/a	n/a
28	SMC3	chr8:104776372-104776914	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr8:104776500-104776923	GM12878	blood:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
30	RAD21	chr8:104776485-104776898	IMR90	lung:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
31	RAD21	chr8:104776550-104776875	K562	blood:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
32	CTCF	chr8:104776526-104776894	IMR90	lung:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
33	GATA3	chr8:104776604-104776850	T-47D	breast:	n/a	n/a
34	CTCF	chr8:104776585-104776836	Lung_OC	lung:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
35	SMC3	chr8:104776555-104776897	GM12878	blood:	n/a	n/a
36	CTCF	chr8:104776468-104776892	A549	lung:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
37	CTCF	chr8:104776700-104776850	HA-sp	spinal cord:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
38	RAD21	chr8:104776525-104776938	ECC-1	luminal epithelium:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
39	RAD21	chr8:104776508-104776870	SK-N-SH_RA	brain:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
40	RAD21	chr8:104776563-104776884	GM12878	blood:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
41	RAD21	chr8:104776458-104776962	H1-hESC	embryonic stem cell:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
42	CTCF	chr8:104776700-104776850	WI-38	lung:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
43	CTCF	chr8:104776570-104776921	T-47D	breast:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
44	CTCF	chr8:104776530-104776949	HCT-116	colon:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
45	RAD21	chr8:104776533-104776921	H1-hESC	embryonic stem cell:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
46	RAD21	chr8:104776555-104776956	A549	lung:	n/a	chr8:104776709-104776718 chr8:104776705-104776724
47	CTCF	chr8:104776572-104776837	HepG2	liver:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
48	CTCF	chr8:104776549-104776851	Medullo	brain:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
49	CTCF	chr8:104776579-104776844	HepG2	liver:	n/a	chr8:104776704-104776722 chr8:104776706-104776727
50	RAD21	chr8:104776579-104776869	H1-hESC	embryonic stem cell:	n/a	chr8:104776709-104776718 chr8:104776705-104776724

No.	Distal block	Cell Line	Cell type
1	chr8:104776048..104778695-chr8:104778794..104781400,2	MCF-7	breast:
2	chr8:104776641..104777197-chr8:105504360..105505105,2	MCF-7	breast:
3	chr8:104776352..104776927-chr8:105454295..105454814,2	K562	blood:
4	chr8:104776210..104777349-chr8:105503586..105504992,8	MCF-7	breast:
5	chr8:104776697..104777502-chr8:105142088..105142615,2	K562	blood:
6	chr8:104776375..104777135-chr8:105788756..105789345,2	MCF-7	breast:
7	chr8:104775998..104777146-chr8:105142053..105143087,6	MCF-7	breast:
8	chr8:104776370..104777203-chr8:105504141..105505133,3	K562	blood:
9	chr8:104776221..104777249-chr8:104883194..104884184,4	MCF-7	breast:
10	chr8:104776566..104777114-chr8:105430021..105430537,3	MCF-7	breast:
11	chr8:104719269..104720167-chr8:104776138..104776892,2	MCF-7	breast:
12	chr8:104775882..104776978-chr8:105142360..105143119,4	MCF-7	breast:

Variant related genes	Relation type
RIMS2	TF binding region
ENSG00000239344	TF binding region
ENSG00000239344	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10100545	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102639	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106745	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1116622	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1116623	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1176668	0.88[ASN][1000 genomes]
rs1176672	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1176675	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1176676	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1176678	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1176681	1.00[ASN][1000 genomes]
rs1176682	1.00[ASN][1000 genomes]
rs11776873	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12114518	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes]
rs1304378	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13258713	0.86[AMR][1000 genomes]
rs13259052	0.82[AMR][1000 genomes]
rs13264010	0.82[AMR][1000 genomes]
rs13265186	0.81[AMR][1000 genomes]
rs13270856	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1365283	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1390847	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1426293	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1426295	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1593496	0.82[AMR][1000 genomes]
rs1593501	0.91[ASN][1000 genomes]
rs1834571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1946369	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1960662	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2080612	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2111495	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2433249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2433253	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2433254	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2433255	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2554733	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3104249	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3104251	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3104253	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3107464	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3107465	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3107471	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110455	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110456	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110459	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110460	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110466	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3110473	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110474	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58480013	0.95[ASN][1000 genomes]
rs62527103	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62527116	0.82[AMR][1000 genomes]
rs62527117	0.82[AMR][1000 genomes]
rs62527123	0.81[AMR][1000 genomes]
rs7004037	0.81[AMR][1000 genomes]
rs72681344	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7815614	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7826043	0.88[AMR][1000 genomes]
rs7837796	0.84[AMR][1000 genomes]
rs924163	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs924165	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	esv2752692	chr8:104520824-105123824	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1016387	chr8:104578389-104931853	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104750400-104778600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104757000-104780400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:104770200-104784000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:104770600-104778600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:104773000-104778400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:104773000-104781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:104773000-104782400	Weak transcription	Adipose Nuclei	Adipose
8	chr8:104773600-104784800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:104775000-104778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:104775000-104780600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:104775200-104778400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:104775200-104780600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:104775200-104781800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:104775400-104778400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:104775400-104780800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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