Variant report

Variant	rs914616
Chromosome Location	chr1:155294274-155294275
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	IRF1	chr1:155293578-155294489	K562	blood:	n/a	chr1:155293676-155293687 chr1:155293648-155293662 chr1:155294035-155294049
2	RCOR1	chr1:155292892-155294425	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr1:155292783-155295119	PANC-1	pancreas:	n/a	n/a
4	SMARCB1	chr1:155292890-155295574	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr1:155293464-155295334	MCF-7	breast:	n/a	n/a
6	ETS1	chr1:155293544-155294622	A549	lung:	n/a	n/a
7	NFATC1	chr1:155293624-155294606	GM12878	blood:	n/a	n/a
8	E2F4	chr1:155292825-155294583	K562	blood:	n/a	chr1:155293112-155293124 chr1:155293167-155293177 chr1:155293268-155293277
9	TFAP2C	chr1:155293013-155295281	Hela-S3	cervix:	n/a	chr1:155294249-155294264
10	MAFK	chr1:155293590-155294684	Hela-S3	cervix:	n/a	n/a
11	SP1	chr1:155292776-155294679	A549	lung:	n/a	chr1:155292942-155292956 chr1:155293027-155293036 chr1:155293650-155293662 chr1:155293113-155293124 chr1:155293027-155293036 chr1:155293651-155293661 chr1:155293652-155293661 chr1:155293254-155293268 chr1:155293028-155293037 chr1:155293026-155293038 chr1:155294038-155294048 chr1:155294171-155294182 chr1:155294038-155294048 chr1:155293650-155293662 chr1:155293651-155293660 chr1:155293651-155293661
12	POLR2A	chr1:155293600-155294809	HepG2	liver:	n/a	n/a
13	GABPA	chr1:155292837-155294542	MCF-7	breast:	n/a	chr1:155293267-155293281 chr1:155293267-155293278 chr1:155293652-155293661
14	ETS1	chr1:155293568-155294986	K562	blood:	n/a	n/a
15	POLR2A	chr1:155293621-155294583	PBDE	blood:	n/a	n/a
16	MAX	chr1:155293586-155294490	A549	lung:	n/a	chr1:155293651-155293661 chr1:155294215-155294225
17	PML	chr1:155292906-155295111	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:155294105-155294380	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr1:155293824-155294564	ECC-1	luminal epithelium:	n/a	n/a
20	PML	chr1:155292932-155294602	K562	blood:	n/a	n/a
21	USF1	chr1:155293969-155294440	SK-N-SH_RA	brain:	n/a	n/a
22	MXI1	chr1:155292900-155295304	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr1:155291862-155295746	IMR90	lung:	n/a	n/a
24	E2F6	chr1:155294086-155294686	A549	lung:	n/a	chr1:155294297-155294308 chr1:155294275-155294286
25	HMGN3	chr1:155292840-155295374	K562	blood:	n/a	n/a
26	CTCF	chr1:155292744-155294449	A549	lung:	n/a	chr1:155293041-155293051 chr1:155293243-155293261 chr1:155293246-155293256 chr1:155293213-155293223 chr1:155293244-155293260
27	MAX	chr1:155292890-155294616	K562	blood:	n/a	chr1:155293651-155293661 chr1:155293258-155293268 chr1:155294215-155294225
28	PML	chr1:155294088-155294588	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:155292760-155294916	A549	lung:	n/a	n/a
30	YY1	chr1:155292941-155294662	HepG2	liver:	n/a	chr1:155293586-155293595 chr1:155293817-155293831 chr1:155293644-155293658 chr1:155293261-155293275
31	YY1	chr1:155293925-155294506	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr1:155293926-155294505	K562	blood:	n/a	n/a
33	YY1	chr1:155294027-155294534	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:155293014-155294538	Raji	blood:	n/a	n/a
35	SIN3A	chr1:155292529-155295504	H1-hESC	embryonic stem cell:	n/a	n/a
36	THAP1	chr1:155293982-155294488	K562	blood:	n/a	n/a
37	HCFC1	chr1:155293951-155294392	K562	blood:	n/a	n/a
38	POLR2A	chr1:155293033-155294507	IMR90	lung:	n/a	n/a
39	POLR2A	chr1:155293577-155294722	H1-neurons	neurons:	n/a	n/a
40	E2F6	chr1:155294004-155294458	K562	blood:	n/a	chr1:155294297-155294308 chr1:155294275-155294286
41	POLR2A	chr1:155292361-155294711	HUVEC	blood vessel:	n/a	n/a
42	ELF1	chr1:155294098-155294573	HepG2	liver:	n/a	n/a
43	POLR2A	chr1:155294055-155294461	K562	blood:	n/a	n/a
44	ZNF143	chr1:155293739-155294488	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:155293491-155294490	A549	lung:	n/a	n/a
46	ATF3	chr1:155294093-155294386	K562	blood:	n/a	n/a
47	BRCA1	chr1:155293603-155294421	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:155292207-155295564	K562	blood:	n/a	n/a
49	ELF1	chr1:155292597-155295379	GM12878	blood:	n/a	chr1:155294785-155294797 chr1:155293586-155293595
50	TCF12	chr1:155294166-155294458	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155196826..155197379-chr1:155293682..155294339,2	NB4	blood:
2	chr1:155247579..155249594-chr1:155291407..155294403,2	K562	blood:
3	chr1:155213005..155216511-chr1:155292470..155296220,4	K562	blood:
4	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
5	chr1:155218380..155223571-chr1:155290636..155294325,6	K562	blood:
6	chr1:155286673..155288850-chr1:155291962..155294625,5	K562	blood:
7	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
8	chr1:155236269..155241954-chr1:155291931..155295779,5	K562	blood:
9	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
10	chr1:155057155..155059036-chr1:155292671..155295446,3	MCF-7	breast:
11	chr1:155237070..155244636-chr1:155291827..155295779,11	K562	blood:
12	chr1:155246252..155247659-chr1:155292568..155294638,9	K562	blood:
13	chr1:155161236..155164985-chr1:155290580..155295192,7	K562	blood:
14	chr1:155293975..155294779-chr6:27114486..27115095,2	Hela-S3	cervix:
15	chr1:155230732..155234142-chr1:155291994..155295451,6	MCF-7	breast:
16	chr1:155209905..155211567-chr1:155291991..155294697,2	K562	blood:
17	chr1:155240682..155244991-chr1:155289682..155296120,12	MCF-7	breast:
18	chr1:155143848..155145847-chr1:155292739..155294361,2	K562	blood:
19	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
20	chr1:155177540..155179890-chr1:155292109..155295871,3	K562	blood:
21	chr1:155175738..155179299-chr1:155291621..155295870,7	K562	blood:
22	chr1:95392083..95393064-chr1:155293720..155294600,2	HCT-116	colon:
23	chr1:155292800..155294999-chr1:155531525..155533061,2	K562	blood:
24	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
25	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
26	chr1:155223788..155226914-chr1:155293518..155296850,4	K562	blood:
27	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
28	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
29	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
30	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
31	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
32	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
33	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:
34	chr1:155242211..155244809-chr1:155291827..155295187,4	K562	blood:
35	chr1:155293998..155294600-chr19:50879563..50880161,2	Hela-S3	cervix:
36	chr1:155293486..155295874-chr17:62223276..62225460,2	MCF-7	breast:
37	chr1:155160293..155162117-chr1:155291803..155294447,2	K562	blood:
38	chr1:155220830..155222351-chr1:155293620..155295201,2	MCF-7	breast:
39	chr1:155223794..155226979-chr1:155292101..155295505,5	K562	blood:
40	chr1:155193544..155197336-chr1:155293049..155296583,5	MCF-7	breast:
41	chr1:155292471..155294999-chr1:155531525..155533817,3	K562	blood:
42	chr1:155293644..155295180-chr1:155658200..155659752,2	MCF-7	breast:

Variant related genes	Relation type
RUSC1-AS1	TF binding region
RUSC1	TF binding region
ENSG00000131408	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000117519	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000160767	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1409140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28559737	1.00[AMR][1000 genomes]
rs7367998	0.88[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs914616	ENSG00000160753	cis	multi-tissue	Pritchard

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	chr1:155292200-155294600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:155292200-155294800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:155292200-155295200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:155292200-155295200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:155292200-155295200	Active TSS	Lung	lung
10	chr1:155292200-155295200	Active TSS	Right Atrium	heart
11	chr1:155292200-155295400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:155292200-155295600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:155292400-155294400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155292400-155294600	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr1:155292400-155294800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:155292400-155294800	Active TSS	Brain Angular Gyrus	brain
17	chr1:155292400-155295000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:155292400-155295000	Active TSS	Brain Hippocampus Middle	brain
19	chr1:155292400-155295000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:155292400-155295000	Active TSS	Esophagus	oesophagus
21	chr1:155292400-155295000	Active TSS	Psoas Muscle	Psoas
22	chr1:155292400-155295200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:155292400-155295200	Active TSS	Brain Substantia Nigra	brain
24	chr1:155292400-155295200	Active TSS	Colon Smooth Muscle	Colon
25	chr1:155292400-155295200	Active TSS	Left Ventricle	heart
26	chr1:155292400-155295400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:155292400-155295400	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:155292400-155295600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:155292400-155295600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:155292400-155295600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:155292400-155295600	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:155292400-155295600	Active TSS	Fetal Kidney	kidney
33	chr1:155292400-155295800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:155292400-155295800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:155292600-155294400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr1:155292600-155294400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr1:155292600-155294400	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:155292600-155294600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:155292600-155294600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:155292600-155294600	Active TSS	Fetal Muscle Leg	muscle
41	chr1:155292600-155294600	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:155292600-155294600	Active TSS	Thymus	Thymus
43	chr1:155292600-155294800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:155292600-155294800	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr1:155292600-155294800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:155292600-155294800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:155292600-155294800	Active TSS	Duodenum Mucosa	Duodenum
48	chr1:155292600-155294800	Active TSS	Right Ventricle	heart
49	chr1:155292600-155294800	Active TSS	Spleen	Spleen
50	chr1:155292600-155295000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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