Variant report

Variant	rs12087231
Chromosome Location	chr1:155295003-155295004
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:155292783-155295119	PANC-1	pancreas:	n/a	n/a
2	SMARCB1	chr1:155292890-155295574	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr1:155294818-155295242	T-47D	breast:	n/a	n/a
4	SIN3AK20	chr1:155293464-155295334	MCF-7	breast:	n/a	n/a
5	TFAP2C	chr1:155293013-155295281	Hela-S3	cervix:	n/a	chr1:155294249-155294264
6	CBX3	chr1:155294917-155295270	K562	blood:	n/a	n/a
7	PML	chr1:155292906-155295111	GM12878	blood:	n/a	n/a
8	BCL3	chr1:155294769-155295706	A549	lung:	n/a	n/a
9	MBD4	chr1:155294680-155295037	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:155294926-155295490	A549	lung:	n/a	n/a
11	CTCF	chr1:155294778-155295362	MCF-7	breast:	n/a	n/a
12	MXI1	chr1:155292900-155295304	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr1:155291862-155295746	IMR90	lung:	n/a	n/a
14	CTCF	chr1:155294979-155295228	A549	lung:	n/a	n/a
15	HMGN3	chr1:155292840-155295374	K562	blood:	n/a	n/a
16	POLR2A	chr1:155294860-155295136	GM12892	blood:	n/a	n/a
17	EP300	chr1:155294953-155295119	K562	blood:	n/a	n/a
18	CTCFL	chr1:155294912-155295267	K562	blood:	n/a	n/a
19	CTCF	chr1:155294973-155295242	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:155294980-155295231	GM19238	blood:	n/a	n/a
21	TAF1	chr1:155294510-155295217	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:155295000-155295206	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:155295000-155295215	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr1:155294968-155295286	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:155294979-155295376	ECC-1	luminal epithelium:	n/a	n/a
26	RFX5	chr1:155294880-155295262	Hela-S3	cervix:	n/a	n/a
27	SIN3A	chr1:155292529-155295504	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr1:155294682-155295512	A549	lung:	n/a	n/a
29	IRF1	chr1:155294916-155295134	K562	blood:	n/a	n/a
30	CTCF	chr1:155294970-155295248	A549	lung:	n/a	n/a
31	POLR2A	chr1:155294667-155295320	A549	lung:	n/a	n/a
32	YY1	chr1:155294862-155295311	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:155294957-155295223	K562	blood:	n/a	n/a
34	RAD21	chr1:155294884-155295294	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:155295000-155295150	GM12875	blood:	n/a	n/a
36	CTCF	chr1:155294897-155295261	K562	blood:	n/a	n/a
37	SMC3	chr1:155294918-155295190	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:155292207-155295564	K562	blood:	n/a	n/a
39	RAD21	chr1:155294918-155295232	HepG2	liver:	n/a	n/a
40	ELF1	chr1:155292597-155295379	GM12878	blood:	n/a	chr1:155294785-155294797 chr1:155293586-155293595
41	POLR2A	chr1:155294978-155295463	GM12878	blood:	n/a	n/a
42	MAZ	chr1:155292123-155295371	IMR90	lung:	n/a	chr1:155293651-155293661 chr1:155293258-155293268
43	RCOR1	chr1:155294741-155295355	K562	blood:	n/a	n/a
44	MXI1	chr1:155294843-155295287	HepG2	liver:	n/a	n/a
45	GABPA	chr1:155294582-155295433	MCF-7	breast:	n/a	n/a
46	SIN3AK20	chr1:155294877-155295193	HepG2	liver:	n/a	n/a
47	CTCF	chr1:155295000-155295150	HCT-116	colon:	n/a	n/a
48	POLR2A	chr1:155285762-155295040	HepG2	liver:	n/a	n/a
49	REST	chr1:155294787-155295191	K562	blood:	n/a	n/a
50	CTCF	chr1:155295000-155295150	HEEpiC	esophagus:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155213005..155216511-chr1:155292470..155296220,4	K562	blood:
2	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
3	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
4	chr1:155236269..155241954-chr1:155291931..155295779,5	K562	blood:
5	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
6	chr1:155057155..155059036-chr1:155292671..155295446,3	MCF-7	breast:
7	chr1:155237070..155244636-chr1:155291827..155295779,11	K562	blood:
8	chr1:155161236..155164985-chr1:155290580..155295192,7	K562	blood:
9	chr1:155230732..155234142-chr1:155291994..155295451,6	MCF-7	breast:
10	chr1:155240682..155244991-chr1:155289682..155296120,12	MCF-7	breast:
11	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
12	chr1:155177540..155179890-chr1:155292109..155295871,3	K562	blood:
13	chr1:155175738..155179299-chr1:155291621..155295870,7	K562	blood:
14	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
15	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
16	chr1:155223788..155226914-chr1:155293518..155296850,4	K562	blood:
17	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
18	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
19	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
20	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
21	chr1:155220177..155222368-chr1:155294459..155296606,2	K562	blood:
22	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
23	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
24	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:
25	chr1:155242211..155244809-chr1:155291827..155295187,4	K562	blood:
26	chr1:155293486..155295874-chr17:62223276..62225460,2	MCF-7	breast:
27	chr1:155220830..155222351-chr1:155293620..155295201,2	MCF-7	breast:
28	chr1:155223794..155226979-chr1:155292101..155295505,5	K562	blood:
29	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
30	chr1:155293644..155295180-chr1:155658200..155659752,2	MCF-7	breast:

No data

Variant related genes	Relation type
RUSC1-AS1	TF binding region
RUSC1	TF binding region
ENSG00000116539	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000176444	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4745	0.84[YRI][hapmap]
rs6427222	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs6669502	0.91[YRI][hapmap]
rs6694257	1.00[YRI][hapmap]
rs7536476	1.00[YRI][hapmap]
rs7551854	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
8	nsv946413	chr1:155286949-155296660	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155290400-155295400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:155290600-155295800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:155291800-155295200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:155292200-155295200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155292200-155295200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:155292200-155295200	Active TSS	Lung	lung
7	chr1:155292200-155295200	Active TSS	Right Atrium	heart
8	chr1:155292200-155295400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:155292200-155295600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:155292400-155295200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:155292400-155295200	Active TSS	Brain Substantia Nigra	brain
12	chr1:155292400-155295200	Active TSS	Colon Smooth Muscle	Colon
13	chr1:155292400-155295200	Active TSS	Left Ventricle	heart
14	chr1:155292400-155295400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:155292400-155295400	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:155292400-155295600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:155292400-155295600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:155292400-155295600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:155292400-155295600	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:155292400-155295600	Active TSS	Fetal Kidney	kidney
21	chr1:155292400-155295800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:155292400-155295800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:155292600-155295200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:155292600-155295200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:155292600-155295200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:155292600-155295200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:155292600-155295200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:155292600-155295200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:155292600-155295200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:155292600-155295200	Active TSS	Fetal Intestine Small	intestine
31	chr1:155292600-155295200	Active TSS	Fetal Lung	lung
32	chr1:155292600-155295200	Active TSS	Ovary	ovary
33	chr1:155292600-155295200	Active TSS	Pancreas	Pancrea
34	chr1:155292600-155295200	Active TSS	Placenta Amnion	Placenta Amnion
35	chr1:155292600-155295200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:155292600-155295200	Active TSS	K562	blood
37	chr1:155292600-155295200	Active TSS	NHEK	skin
38	chr1:155292600-155295200	Active TSS	NHLF	lung
39	chr1:155292600-155295200	Active TSS	Osteobl	bone
40	chr1:155292600-155295400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:155292600-155295400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:155292600-155295400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:155292600-155295400	Active TSS	Small Intestine	intestine
44	chr1:155292600-155295400	Active TSS	A549	lung
45	chr1:155292600-155295400	Active TSS	Hela-S3	cervix
46	chr1:155292600-155295400	Active TSS	NHDF-Ad	bronchial
47	chr1:155292600-155295600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:155292600-155295600	Active TSS	Brain Anterior Caudate	brain
49	chr1:155292600-155295600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:155292600-155295600	Active TSS	Sigmoid Colon	Sigmoid Colon

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