Variant report

Variant	rs4971075
Chromosome Location	chr1:155294772-155294773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

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	SIN3AK20	chr1:155293464-155295334	MCF-7	breast:	n/a	n/a
4	TFAP2C	chr1:155293013-155295281	Hela-S3	cervix:	n/a	chr1:155294249-155294264
5	POLR2A	chr1:155293600-155294809	HepG2	liver:	n/a	n/a
6	ETS1	chr1:155293568-155294986	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	MXI1	chr1:155292900-155295304	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr1:155291862-155295746	IMR90	lung:	n/a	n/a
12	HMGN3	chr1:155292840-155295374	K562	blood:	n/a	n/a
13	TAF1	chr1:155294510-155295217	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:155292760-155294916	A549	lung:	n/a	n/a
15	SIN3A	chr1:155292529-155295504	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:155294682-155295512	A549	lung:	n/a	n/a
17	POLR2A	chr1:155294667-155295320	A549	lung:	n/a	n/a
18	POLR2A	chr1:155292207-155295564	K562	blood:	n/a	n/a
19	ELF1	chr1:155292597-155295379	GM12878	blood:	n/a	chr1:155294785-155294797 chr1:155293586-155293595
20	MAZ	chr1:155292123-155295371	IMR90	lung:	n/a	chr1:155293651-155293661 chr1:155293258-155293268
21	RCOR1	chr1:155294741-155295355	K562	blood:	n/a	n/a
22	GABPA	chr1:155294582-155295433	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:155285762-155295040	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:155292768-155295289	Hela-S3	cervix:	n/a	n/a
25	SMARCC1	chr1:155293737-155295614	Hela-S3	cervix:	n/a	n/a
26	MAX	chr1:155292808-155295462	ECC-1	luminal epithelium:	n/a	chr1:155293651-155293661 chr1:155293258-155293268 chr1:155294215-155294225
27	MTA3	chr1:155292746-155295424	GM12878	blood:	n/a	n/a
28	CTCF	chr1:155294640-155294790	HMEC	breast:	n/a	n/a
29	ELF1	chr1:155293480-155295528	MCF-7	breast:	n/a	chr1:155294785-155294797 chr1:155293586-155293595
30	MAX	chr1:155293676-155294974	GM12878	blood:	n/a	chr1:155294215-155294225
31	UBTF	chr1:155292479-155295463	K562	blood:	n/a	n/a
32	MAX	chr1:155292227-155295582	A549	lung:	n/a	chr1:155293651-155293661 chr1:155293258-155293268 chr1:155294215-155294225
33	YY1	chr1:155294090-155295229	A549	lung:	n/a	n/a
34	ZNF143	chr1:155294768-155295262	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr1:155293712-155294817	A549	lung:	n/a	n/a
36	POLR2A	chr1:155294716-155295356	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr1:155293489-155294876	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:155292391-155295624	ECC-1	luminal epithelium:	n/a	n/a
39	SIN3AK20	chr1:155293524-155295239	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr1:155293487-155294920	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr1:155292834-155295446	ECC-1	luminal epithelium:	n/a	chr1:155293118-155293125 chr1:155293031-155293038 chr1:155293044-155293053 chr1:155293244-155293253
42	CTBP2	chr1:155293617-155295406	H1-hESC	embryonic stem cell:	n/a	n/a
43	ELF1	chr1:155294728-155295309	K562	blood:	n/a	chr1:155294785-155294797
44	MAX	chr1:155292703-155295676	MCF-7	breast:	n/a	chr1:155293651-155293661 chr1:155293258-155293268 chr1:155294215-155294225
45	POLR2A	chr1:155293521-155295522	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZBTB7A	chr1:155292755-155295349	K562	blood:	n/a	chr1:155293118-155293125 chr1:155293031-155293038 chr1:155293044-155293053 chr1:155293244-155293253
47	HEY1	chr1:155294589-155294789	HepG2	liver:	n/a	n/a
48	RUNX3	chr1:155293450-155294877	GM12878	blood:	n/a	n/a
49	ZNF263	chr1:155293833-155296271	HEK293-T-REx	kidney:	n/a	chr1:155295575-155295596
50	POLR2A	chr1:155292985-155295425	Hela-S3	cervix:	n/a	n/a

No data

(count:33 , 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	chr1:155293975..155294779-chr6:27114486..27115095,2	Hela-S3	cervix:
10	chr1:155230732..155234142-chr1:155291994..155295451,6	MCF-7	breast:
11	chr1:155240682..155244991-chr1:155289682..155296120,12	MCF-7	breast:
12	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
13	chr1:155177540..155179890-chr1:155292109..155295871,3	K562	blood:
14	chr1:155175738..155179299-chr1:155291621..155295870,7	K562	blood:
15	chr1:155292800..155294999-chr1:155531525..155533061,2	K562	blood:
16	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
17	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
18	chr1:155223788..155226914-chr1:155293518..155296850,4	K562	blood:
19	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
20	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
21	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
22	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
23	chr1:155220177..155222368-chr1:155294459..155296606,2	K562	blood:
24	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
25	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
26	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:
27	chr1:155242211..155244809-chr1:155291827..155295187,4	K562	blood:
28	chr1:155293486..155295874-chr17:62223276..62225460,2	MCF-7	breast:
29	chr1:155220830..155222351-chr1:155293620..155295201,2	MCF-7	breast:
30	chr1:155223794..155226979-chr1:155292101..155295505,5	K562	blood:
31	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
32	chr1:155292471..155294999-chr1:155531525..155533817,3	K562	blood:
33	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
ENSG00000116521	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000197903	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10752610	1.00[ASW][hapmap];0.80[LWK][hapmap];0.96[YRI][hapmap]
rs10908468	1.00[ASW][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap]
rs11264359	0.81[LWK][hapmap];0.96[YRI][hapmap]
rs4472748	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs4971051	1.00[ASW][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7340058	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs9427215	0.89[AFR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4971075	LAMTOR2	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155290200-155295000	Active TSS	Aorta	Aorta
2	chr1:155290400-155295400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:155290600-155295800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:155291800-155295200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:155292200-155294800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:155292200-155295200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155292200-155295200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:155292200-155295200	Active TSS	Lung	lung
9	chr1:155292200-155295200	Active TSS	Right Atrium	heart
10	chr1:155292200-155295400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:155292200-155295600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:155292400-155294800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:155292400-155294800	Active TSS	Brain Angular Gyrus	brain
14	chr1:155292400-155295000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr1:155292400-155295000	Active TSS	Brain Hippocampus Middle	brain
16	chr1:155292400-155295000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:155292400-155295000	Active TSS	Esophagus	oesophagus
18	chr1:155292400-155295000	Active TSS	Psoas Muscle	Psoas
19	chr1:155292400-155295200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:155292400-155295200	Active TSS	Brain Substantia Nigra	brain
21	chr1:155292400-155295200	Active TSS	Colon Smooth Muscle	Colon
22	chr1:155292400-155295200	Active TSS	Left Ventricle	heart
23	chr1:155292400-155295400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:155292400-155295400	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:155292400-155295600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:155292400-155295600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:155292400-155295600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:155292400-155295600	Active TSS	Brain Cingulate Gyrus	brain
29	chr1:155292400-155295600	Active TSS	Fetal Kidney	kidney
30	chr1:155292400-155295800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:155292400-155295800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:155292600-155294800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:155292600-155294800	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr1:155292600-155294800	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:155292600-155294800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:155292600-155294800	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:155292600-155294800	Active TSS	Right Ventricle	heart
38	chr1:155292600-155294800	Active TSS	Spleen	Spleen
39	chr1:155292600-155295000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:155292600-155295000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:155292600-155295000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:155292600-155295000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:155292600-155295000	Active TSS	Fetal Stomach	stomach
44	chr1:155292600-155295000	Active TSS	Gastric	stomach
45	chr1:155292600-155295000	Active TSS	HSMM	muscle
46	chr1:155292600-155295200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:155292600-155295200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:155292600-155295200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:155292600-155295200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:155292600-155295200	Active TSS	Muscle Satellite Cultured Cells	--

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