Variant report

Variant	rs12567886
Chromosome Location	chr1:160991569-160991570
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	POLR2A	chr1:160990289-160991978	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr1:160989466-160991806	K562	blood:	n/a	n/a
3	POLR2A	chr1:160989758-160991710	K562	blood:	n/a	n/a
4	CEBPD	chr1:160989361-160991569	K562	blood:	n/a	n/a
5	POLR2A	chr1:160989702-160991901	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:160990644-160991601	PANC-1	pancreas:	n/a	n/a
7	HA-E2F1	chr1:160990364-160991876	MCF-7	breast:	n/a	chr1:160990991-160991000 chr1:160991077-160991086 chr1:160991104-160991115 chr1:160991108-160991115
8	POLR2A	chr1:160990309-160991738	K562	blood:	n/a	n/a
9	PML	chr1:160990347-160991610	K562	blood:	n/a	n/a
10	STAT5A	chr1:160990315-160991574	GM12878	blood:	n/a	chr1:160991452-160991464 chr1:160990707-160990719 chr1:160990965-160990977
11	JUN	chr1:160990258-160992327	K562	blood:	n/a	chr1:160990989-160990998 chr1:160991589-160991601 chr1:160991967-160991979 chr1:160991463-160991477 chr1:160990591-160990599 chr1:160991020-160991029
12	TAF1	chr1:160989746-160991598	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:160990329-160991979	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:160990257-160991581	GM12892	blood:	n/a	n/a
15	TCF12	chr1:160990530-160991611	ECC-1	luminal epithelium:	n/a	chr1:160991067-160991074
16	POLR2A	chr1:160989484-160992369	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr1:160990241-160991585	HepG2	liver:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
18	ELF1	chr1:160990740-160991640	MCF-7	breast:	n/a	chr1:160990968-160990980 chr1:160990975-160990987 chr1:160991278-160991291
19	SMARCC1	chr1:160990308-160992327	Hela-S3	cervix:	n/a	n/a
20	MAX	chr1:160990229-160991739	K562	blood:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
21	POLR2A	chr1:160989774-160991595	H1-hESC	embryonic stem cell:	n/a	n/a
22	GTF2F1	chr1:160990539-160991923	Hela-S3	cervix:	n/a	n/a
23	ZEB1	chr1:160989723-160991704	HepG2	liver:	n/a	chr1:160990443-160990454
24	POLR2A	chr1:160989689-160991631	PBDE	blood:	n/a	n/a
25	FOSL2	chr1:160991130-160992341	A549	lung:	n/a	chr1:160991589-160991601 chr1:160991967-160991979 chr1:160991463-160991477
26	MAX	chr1:160990304-160991596	ECC-1	luminal epithelium:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
27	POLR2A	chr1:160990245-160992277	K562	blood:	n/a	n/a
28	EP300	chr1:160990518-160991729	ECC-1	luminal epithelium:	n/a	chr1:160991281-160991290 chr1:160991562-160991576
29	POLR2A	chr1:160990173-160991602	K562	blood:	n/a	n/a
30	PML	chr1:160989702-160991638	GM12878	blood:	n/a	n/a
31	FOXA2	chr1:160991448-160992214	A549	lung:	n/a	n/a
32	SP1	chr1:160990389-160992137	A549	lung:	n/a	chr1:160990975-160990984 chr1:160990603-160990612 chr1:160990727-160990737 chr1:160990980-160991001 chr1:160990974-160990983 chr1:160990974-160990988 chr1:160990599-160990613 chr1:160990974-160990984 chr1:160991011-160991032 chr1:160990713-160990726 chr1:160990973-160990985 chr1:160991089-160991098 chr1:160990973-160990984 chr1:160990973-160990985
33	MAX	chr1:160990319-160991656	ECC-1	luminal epithelium:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
34	SP1	chr1:160990520-160992114	A549	lung:	n/a	chr1:160990975-160990984 chr1:160990603-160990612 chr1:160990727-160990737 chr1:160990980-160991001 chr1:160990974-160990983 chr1:160990974-160990988 chr1:160990599-160990613 chr1:160990974-160990984 chr1:160991011-160991032 chr1:160990713-160990726 chr1:160990973-160990985 chr1:160991089-160991098 chr1:160990973-160990984 chr1:160990973-160990985
35	TEAD4	chr1:160990813-160991626	ECC-1	luminal epithelium:	n/a	chr1:160991478-160991487
36	TAF1	chr1:160990497-160991659	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr1:160990305-160991570	MCF-7	breast:	n/a	chr1:160991078-160991088 chr1:160990974-160990984
38	NFYB	chr1:160990571-160991797	GM12878	blood:	n/a	chr1:160990990-160991000 chr1:160991020-160991035 chr1:160990989-160991002
39	POLR2A	chr1:160989605-160991584	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:160990371-160992050	HCT-116	colon:	n/a	n/a
41	TEAD4	chr1:160989410-160991656	K562	blood:	n/a	chr1:160991478-160991487
42	SIN3AK20	chr1:160990252-160992095	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:160990639-160991569	HCT-116	colon:	n/a	n/a
44	REST	chr1:160991004-160991601	A549	lung:	n/a	n/a
45	MTA3	chr1:160989474-160991707	GM12878	blood:	n/a	n/a
46	ZNF263	chr1:160989702-160991978	HEK293-T-REx	kidney:	n/a	chr1:160991635-160991656 chr1:160990706-160990715 chr1:160991557-160991578
47	TAF1	chr1:160990225-160991574	K562	blood:	n/a	n/a
48	SP1	chr1:160990352-160991705	HCT-116	colon:	n/a	chr1:160990975-160990984 chr1:160990603-160990612 chr1:160990727-160990737 chr1:160990980-160991001 chr1:160990974-160990983 chr1:160990974-160990988 chr1:160990599-160990613 chr1:160990974-160990984 chr1:160991011-160991032 chr1:160990713-160990726 chr1:160990973-160990985 chr1:160991089-160991098 chr1:160990973-160990984 chr1:160990973-160990985
49	POLR2A	chr1:160990533-160991631	SK-N-MC	brain:	n/a	n/a
50	MAX	chr1:160990284-160992375	A549	lung:	n/a	chr1:160991078-160991088 chr1:160990974-160990984

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:160991549-160991599	AG04449	skin:	fetal
2	chr1:160991549-160991599	T-47D	breast:	n/a
3	chr1:160991549-160991599	HIPEpiC	eye:	n/a
4	chr1:160991549-160991599	GM12878	blood:	n/a
5	chr1:160991549-160991599	CMK	blood:	n/a
6	chr1:160991549-160991599	NH-A	brain:	n/a
7	chr1:160991549-160991599	A549	lung:	n/a
8	chr1:160991549-160991599	NHDF-neo	bronchial:	n/a
9	chr1:160991549-160991599	HCM	heart:	n/a
10	chr1:160991549-160991599	AG04450	lung:	fetal
11	chr1:160991549-160991599	HRE	kidney:	n/a
12	chr1:160991549-160991599	HRPEpiC	eye:	n/a
13	chr1:160991549-160991599	GM12892	blood:	n/a
14	chr1:160991549-160991599	GM12891	blood:	n/a
15	chr1:160991549-160991599	U87	brain:	n/a
16	chr1:160991549-160991599	RPTEC	kidney:	n/a
17	chr1:160991549-160991599	HRCEpiC	kidney:	n/a
18	chr1:160991549-160991599	HCT-116	colon:	n/a
19	chr1:160991549-160991599	Hepatocyte	liver:	n/a
20	chr1:160991549-160991599	SK-N-MC	brain:	n/a
21	chr1:160991549-160991599	AG09309	skin:	n/a
22	chr1:160991549-160991599	AoSMC	blood vessel:	n/a
23	chr1:160991549-160991599	ProgFib	skin:	n/a
24	chr1:160991549-160991599	SK-N-SH_RA	brain:	n/a
25	chr1:160991549-160991599	IMR90	lung:	fetal
26	chr1:160991549-160991599	SKMC	muscle:	n/a
27	chr1:160991549-160991599	NT2-D1	testis:	n/a
28	chr1:160991549-160991599	HCPEpiC	choroid plexus:	n/a
29	chr1:160991549-160991599	NB4	blood:	n/a
30	chr1:160991549-160991599	Hela-S3	cervix:	n/a
31	chr1:160991549-160991599	HMEC	breast:	n/a
32	chr1:160991549-160991599	PFSK-1	brain:	n/a
33	chr1:160991549-160991599	LNCaP	prostate:	n/a
34	chr1:160991549-160991599	SK-N-SH	brain:	n/a
35	chr1:160991549-160991599	NHBE	bronchial:	n/a
36	chr1:160991549-160991599	MCF-7	breast:	n/a
37	chr1:160991549-160991599	Jurkat	blood:	n/a
38	chr1:160991549-160991599	SAEC	small airway:	n/a
39	chr1:160991549-160991599	HEK293	kidney:	embryo
40	chr1:160991549-160991599	Caco-2	colon:	n/a
41	chr1:160991549-160991599	HepG2	liver:	n/a
42	chr1:160991549-160991599	HEEpiC	esophagus:	n/a
43	chr1:160991549-160991599	HNPCEpiC	eye:	n/a
44	chr1:160991549-160991599	ECC-1	luminal epithelium:	n/a
45	chr1:160991549-160991599	AG09319	gingival:	n/a
46	chr1:160991549-160991599	H1-hESC	embryonic stem cell:	embryo
47	chr1:160991549-160991599	HL-60	blood:	n/a
48	chr1:160991549-160991599	K562	blood:	n/a
49	chr1:160991549-160991599	PrEC	prostate:	n/a
50	chr1:160991549-160991599	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:160989106..160992104-chr1:161101728..161103686,4	K562	blood:
2	chr1:160990808..160991668-chr11:85780243..85780839,2	HCT-116	colon:
3	chr1:160991163..160993549-chr1:161020053..161022442,2	MCF-7	breast:
4	chr1:160988929..160992185-chr1:161012707..161018170,8	MCF-7	breast:
5	chr1:160989498..160991645-chr1:161056781..161059472,2	MCF-7	breast:
6	chr1:160989661..160992673-chr1:161066595..161070388,4	K562	blood:
7	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
8	chr1:160990576..160992373-chr1:161014612..161018487,6	K562	blood:
9	chr1:160989097..160992016-chr1:161278410..161280382,2	K562	blood:
10	chr1:160990813..160992339-chr17:57183553..57186254,2	MCF-7	breast:
11	chr1:160987801..160992609-chr1:161065993..161069595,4	MCF-7	breast:
12	chr1:160991301..160993466-chr1:161036693..161038459,2	K562	blood:
13	chr1:160989787..160992592-chr1:161127591..161130267,2	K562	blood:
14	chr1:160991294..160991903-chr1:161015743..161016371,2	Hela-S3	cervix:
15	chr1:160989864..160992775-chr1:161169949..161172743,2	MCF-7	breast:
16	chr1:160989663..160992818-chr1:161011844..161017868,15	MCF-7	breast:
17	chr1:160988368..160992141-chr1:161085559..161090183,5	MCF-7	breast:
18	chr1:160990492..160992160-chr1:161130814..161132595,2	K562	blood:
19	chr1:160989721..160993044-chr1:161014364..161019082,7	K562	blood:
20	chr1:45187018..45187769-chr1:160990629..160991569,2	NB4	blood:
21	chr1:160991276..160994205-chr1:161086519..161089474,3	MCF-7	breast:
22	chr1:160989661..160992673-chr1:161067559..161070388,3	K562	blood:
23	chr1:160987861..160992104-chr1:161101436..161104060,5	K562	blood:
24	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:
25	chr1:160988819..160994033-chr1:161005548..161011188,8	MCF-7	breast:
26	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
27	chr1:160990711..160991608-chr1:161008481..161009243,2	MCF-7	breast:
28	chr1:160989601..160993379-chr1:161101301..161104263,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSTD1-1	chr1:160991202-160992060	NONHSAT007092

Variant related genes	Relation type
F11R	TF binding region
F11R	CpG island
ENSG00000143258	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000073921	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000270149	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000224985	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000215845	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000199377	Chromatin interaction

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

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

rs_ID	r²[population]
rs17215366	1.00[AMR][1000 genomes]
rs17221763	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6656547	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73019791	1.00[AMR][1000 genomes]
rs7354890	0.88[EUR][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	chr1:160988000-160992000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:160988400-160991800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:160988400-160991800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:160988400-160991800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:160988600-160992000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr1:160988600-160992200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:160988800-160991800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:160988800-160991800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:160988800-160991800	Active TSS	Colonic Mucosa	Colon
10	chr1:160988800-160992000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:160989000-160991600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:160989000-160991800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:160989000-160992000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:160989000-160992000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:160989200-160991800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:160989400-160991600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:160989400-160991600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:160989400-160991600	Active TSS	Fetal Intestine Small	intestine
19	chr1:160989400-160991600	Active TSS	Right Atrium	heart
20	chr1:160989400-160991800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:160989600-160991600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:160989600-160991600	Active TSS	A549	lung
23	chr1:160989600-160991800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:160989600-160991800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:160989800-160991600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:160989800-160991600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:160989800-160991600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:160989800-160991600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:160989800-160991600	Flanking Active TSS	Fetal Thymus	thymus
30	chr1:160989800-160991600	Active TSS	Gastric	stomach
31	chr1:160989800-160991600	Active TSS	Ovary	ovary
32	chr1:160990000-160991600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:160990000-160991600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:160990000-160991600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr1:160990000-160991600	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr1:160990000-160991600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr1:160990000-160991600	Active TSS	Pancreas	Pancrea
38	chr1:160990000-160991600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:160990000-160992000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:160990200-160991600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:160990200-160991600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr1:160990200-160991600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr1:160990200-160991600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr1:160990200-160991600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:160990400-160991600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr1:160990600-160991600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:160990800-160991600	Bivalent/Poised TSS	Fetal Brain Male	brain
48	chr1:160991000-160991600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:160991000-160991600	Flanking Active TSS	Left Ventricle	heart
50	chr1:160991000-160991600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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