Variant report

Variant	rs59486558
Chromosome Location	chr1:161085117-161085118
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	FOSL2	chr1:161085066-161085460	A549	lung:	n/a	n/a
2	EP300	chr1:161085037-161085454	K562	blood:	n/a	n/a
3	FOS	chr1:161085038-161085566	MCF10A-Er-Src	breast:	n/a	chr1:161085225-161085236
4	POLR2A	chr1:161085056-161085494	K562	blood:	n/a	n/a
5	MAX	chr1:161084991-161085536	Hela-S3	cervix:	n/a	n/a
6	JUND	chr1:161085031-161085391	A549	lung:	n/a	n/a
7	JUN	chr1:161083754-161085744	K562	blood:	n/a	n/a
8	CHD2	chr1:161085040-161085537	Hela-S3	cervix:	n/a	n/a
9	JUN	chr1:161085009-161085589	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr1:161085061-161085539	Hela-S3	cervix:	n/a	n/a
11	FOS	chr1:161085051-161085417	Hela-S3	cervix:	n/a	chr1:161085225-161085236
12	ATF3	chr1:161084815-161085339	A549	lung:	n/a	n/a
13	GATA3	chr1:161085049-161085672	SK-N-SH	brain:	n/a	n/a
14	MAX	chr1:161085008-161085461	Hela-S3	cervix:	n/a	n/a
15	TBP	chr1:161085006-161085551	Hela-S3	cervix:	n/a	n/a
16	JUN	chr1:161085069-161085431	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr1:161084945-161085526	HCT-116	colon:	n/a	n/a
18	MAX	chr1:161084851-161085777	HCT-116	colon:	n/a	n/a
19	STAT3	chr1:161085027-161085577	Hela-S3	cervix:	n/a	n/a
20	ATF3	chr1:161084616-161085650	HCT-116	colon:	n/a	n/a
21	RFX5	chr1:161085010-161085559	Hela-S3	cervix:	n/a	n/a
22	FOS	chr1:161085028-161085583	MCF10A-Er-Src	breast:	n/a	chr1:161085225-161085236
23	POLR2A	chr1:161084627-161085799	PFSK-1	brain:	n/a	n/a
24	CEBPB	chr1:161085016-161085374	K562	blood:	n/a	chr1:161085194-161085205
25	RCOR1	chr1:161085084-161085463	K562	blood:	n/a	n/a
26	JUN	chr1:161085058-161085463	K562	blood:	n/a	n/a
27	SIN3AK20	chr1:161084930-161085755	HCT-116	colon:	n/a	n/a
28	FOS	chr1:161084983-161085509	MCF10A-Er-Src	breast:	n/a	chr1:161085225-161085236
29	STAT3	chr1:161085017-161085515	MCF10A-Er-Src	breast:	n/a	n/a
30	YY1	chr1:161085017-161085370	HCT-116	colon:	n/a	n/a
31	JUND	chr1:161085005-161085589	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr1:161084559-161085767	HCT-116	colon:	n/a	chr1:161085194-161085205
33	POLR2A	chr1:161084892-161085625	U87	brain:	n/a	n/a
34	POLR2A	chr1:161084997-161085480	SK-N-SH	brain:	n/a	n/a
35	JUND	chr1:161084968-161085647	HCT-116	colon:	n/a	n/a
36	POLR2A	chr1:161084940-161086095	HCT-116	colon:	n/a	n/a
37	ZKSCAN1	chr1:161085057-161085442	Hela-S3	cervix:	n/a	n/a
38	MYC	chr1:161084991-161085454	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr1:161085047-161085487	Hela-S3	cervix:	n/a	n/a
40	MAX	chr1:161084933-161085714	HCT-116	colon:	n/a	n/a
41	STAT3	chr1:161085036-161085573	MCF10A-Er-Src	breast:	n/a	n/a
42	CEBPB	chr1:161085079-161085480	ECC-1	luminal epithelium:	n/a	chr1:161085194-161085205
43	STAT3	chr1:161085038-161085533	MCF10A-Er-Src	breast:	n/a	n/a
44	RPC155	chr1:161084872-161085260	K562	blood:	n/a	n/a
45	CEBPB	chr1:161085048-161085376	K562	blood:	n/a	chr1:161085194-161085205
46	POLR2A	chr1:161085050-161085457	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:161085093-161085514	MCF10A-Er-Src	breast:	n/a	n/a
48	FOSL2	chr1:161085011-161085521	A549	lung:	n/a	n/a
49	ATF1	chr1:161085100-161085491	K562	blood:	n/a	n/a
50	FOS	chr1:161084990-161085584	MCF10A-Er-Src	breast:	n/a	chr1:161085225-161085236

No.	Distal block	Cell Line	Cell type
1	chr1:161067105..161072149-chr1:161083038..161089689,9	MCF-7	breast:
2	chr1:161066775..161076749-chr1:161082263..161091955,20	K562	blood:
3	chr1:161013674..161020196-chr1:161084642..161090709,10	MCF-7	breast:
4	chr1:161013470..161017562-chr1:161084888..161088962,4	MCF-7	breast:
5	chr1:161014942..161020484-chr1:161081169..161085203,6	K562	blood:
6	chr1:161070211..161073021-chr1:161084207..161086121,2	K562	blood:

Variant related genes	Relation type
NIT1	TF binding region
ENSG00000162755	Chromatin interaction
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12063241	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301288	0.95[EUR][1000 genomes]
rs3813621	0.95[EUR][1000 genomes]
rs41270043	0.95[EUR][1000 genomes]
rs7550614	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161068800-161085200	Weak transcription	Right Atrium	heart
2	chr1:161068800-161085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:161068800-161087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:161069000-161085200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:161069000-161086800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:161069200-161086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:161069400-161086400	Weak transcription	Stomach Mucosa	stomach
8	chr1:161072000-161086200	Weak transcription	Fetal Kidney	kidney
9	chr1:161072000-161086400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:161072000-161086400	Weak transcription	Fetal Lung	lung
11	chr1:161072200-161085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:161072200-161085200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:161072200-161085200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:161072200-161085200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:161072200-161085200	Weak transcription	Right Ventricle	heart
16	chr1:161072200-161085200	Weak transcription	NHDF-Ad	bronchial
17	chr1:161072200-161086000	Weak transcription	Ovary	ovary
18	chr1:161072200-161086200	Weak transcription	Aorta	Aorta
19	chr1:161072200-161086400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:161072200-161086400	Weak transcription	Fetal Brain Male	brain
21	chr1:161072200-161086400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:161072200-161086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:161072200-161087000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:161072200-161087000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:161072400-161085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:161072400-161085600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:161072400-161086200	Weak transcription	Fetal Brain Female	brain
28	chr1:161072400-161086400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:161072400-161086400	Weak transcription	Fetal Intestine Large	intestine
30	chr1:161072400-161086400	Weak transcription	HSMMtube	muscle
31	chr1:161072400-161086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:161072600-161085200	Weak transcription	Brain Germinal Matrix	brain
33	chr1:161073000-161085200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:161073000-161085200	Weak transcription	NHLF	lung
35	chr1:161073000-161085800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:161073000-161086400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:161073400-161085600	Weak transcription	Placenta	Placenta
38	chr1:161077600-161085600	Weak transcription	Fetal Thymus	thymus
39	chr1:161079600-161085600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:161079600-161085800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:161079800-161086000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:161079800-161086400	Weak transcription	Thymus	Thymus
43	chr1:161080000-161085600	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:161080000-161086200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:161080000-161086800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:161080200-161086800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:161080800-161086400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:161080800-161086800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:161081000-161086400	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:161081000-161086400	Enhancers	Skeletal Muscle Female	skeletal muscle

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