Variant report

Variant	rs11587006
Chromosome Location	chr1:151689611-151689612
allele	C/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	TEAD4	chr1:151689126-151689972	A549	lung:	n/a	n/a
2	MXI1	chr1:151687714-151691021	SK-N-SH	brain:	n/a	n/a
3	REST	chr1:151689270-151689839	HepG2	liver:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
4	REST	chr1:151689269-151689680	PFSK-1	brain:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
5	ZNF263	chr1:151689312-151689831	HEK293-T-REx	kidney:	n/a	chr1:151689406-151689427 chr1:151689478-151689499
6	REST	chr1:151689280-151689871	HCT-116	colon:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
7	GABPA	chr1:151689345-151689627	K562	blood:	n/a	n/a
8	REST	chr1:151689167-151690131	HL-60	blood:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
9	REST	chr1:151689213-151689774	K562	blood:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
10	YY1	chr1:151689263-151689688	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr1:151689236-151689706	SK-N-SH	brain:	n/a	n/a
12	HDAC2	chr1:151689443-151689663	H1-hESC	embryonic stem cell:	n/a	chr1:151689576-151689595
13	REST	chr1:151689269-151689793	PANC-1	pancreas:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
14	SIN3AK20	chr1:151689314-151689711	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr1:151689253-151689800	SK-N-SH	brain:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
16	REST	chr1:151689163-151689933	PANC-1	pancreas:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
17	SP1	chr1:151689188-151689692	H1-hESC	embryonic stem cell:	n/a	chr1:151689287-151689297 chr1:151689436-151689447 chr1:151689301-151689311 chr1:151689399-151689409 chr1:151689438-151689447 chr1:151689399-151689409
18	YY1	chr1:151689295-151689685	GM12878	blood:	n/a	n/a
19	CREB1	chr1:151689282-151689762	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr1:151689161-151690258	PFSK-1	brain:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
21	REST	chr1:151689480-151689737	GM12878	blood:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
22	ELF1	chr1:151689329-151689710	GM12878	blood:	n/a	n/a
23	ETS1	chr1:151689247-151689637	K562	blood:	n/a	n/a
24	REST	chr1:151689035-151690256	MCF-7	breast:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
25	REST	chr1:151689515-151689625	PANC-1	pancreas:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
26	POLR2A	chr1:151688255-151690437	H1-neurons	neurons:	n/a	n/a
27	REST	chr1:151689440-151689663	HepG2	liver:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
28	HDAC2	chr1:151689112-151690364	MCF-7	breast:	n/a	chr1:151689576-151689595
29	TAF1	chr1:151689141-151690217	H1-neurons	neurons:	n/a	n/a
30	REST	chr1:151689221-151689916	PANC-1	pancreas:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
31	REST	chr1:151689248-151690097	PFSK-1	brain:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
32	HDAC2	chr1:151689363-151689742	H1-hESC	embryonic stem cell:	n/a	chr1:151689576-151689595
33	MXI1	chr1:151689338-151689765	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr1:151689289-151689704	H1-hESC	embryonic stem cell:	n/a	n/a
35	EGR1	chr1:151689227-151689649	K562	blood:	n/a	n/a
36	ELF1	chr1:151689177-151689865	MCF-7	breast:	n/a	chr1:151689196-151689208
37	YY1	chr1:151689275-151689681	GM12891	blood:	n/a	n/a
38	JUND	chr1:151689460-151689611	H1-hESC	embryonic stem cell:	n/a	n/a
39	RCOR1	chr1:151689261-151689632	K562	blood:	n/a	n/a
40	SIN3A	chr1:151689182-151690090	H1-hESC	embryonic stem cell:	n/a	chr1:151689576-151689589 chr1:151689581-151689595 chr1:151689573-151689582
41	TEAD4	chr1:151689182-151689663	K562	blood:	n/a	n/a
42	EGR1	chr1:151689212-151690121	K562	blood:	n/a	chr1:151689968-151689978 chr1:151689946-151689960 chr1:151689946-151689959 chr1:151689947-151689958 chr1:151689946-151689959 chr1:151689946-151689959 chr1:151689947-151689961 chr1:151689948-151689958 chr1:151689959-151689969 chr1:151689964-151689978 chr1:151689945-151689960
43	SP1	chr1:151689203-151689657	A549	lung:	n/a	chr1:151689287-151689297 chr1:151689436-151689447 chr1:151689301-151689311 chr1:151689399-151689409 chr1:151689438-151689447 chr1:151689399-151689409
44	REST	chr1:151689447-151689696	PANC-1	pancreas:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
45	YY1	chr1:151689203-151689682	K562	blood:	n/a	n/a
46	REST	chr1:151689282-151689775	Hela-S3	cervix:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
47	MAZ	chr1:151689276-151689741	K562	blood:	n/a	chr1:151689278-151689288 chr1:151689281-151689291
48	MAZ	chr1:151689473-151689716	GM12878	blood:	n/a	n/a
49	REST	chr1:151689225-151689870	A549	lung:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
50	YY1	chr1:151689328-151689642	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151689587-151689637	MCF-7	breast:	n/a
2	chr1:151689587-151689637	HEEpiC	esophagus:	n/a
3	chr1:151689587-151689637	SK-N-SH_RA	brain:	n/a
4	chr1:151689587-151689637	HCPEpiC	choroid plexus:	n/a
5	chr1:151689587-151689637	CMK	blood:	n/a
6	chr1:151689587-151689637	HEK293	kidney:	embryo
7	chr1:151689587-151689637	Jurkat	blood:	n/a
8	chr1:151689587-151689637	A549	lung:	n/a
9	chr1:151689587-151689637	HCM	heart:	n/a
10	chr1:151689587-151689637	BE2_C	brain:	n/a
11	chr1:151689587-151689637	NT2-D1	testis:	n/a
12	chr1:151689587-151689637	AG10803	skin:	n/a
13	chr1:151689587-151689637	NB4	blood:	n/a
14	chr1:151689587-151689637	Hela-S3	cervix:	n/a
15	chr1:151689587-151689637	GM12878	blood:	n/a
16	chr1:151689587-151689637	HRE	kidney:	n/a
17	chr1:151689587-151689637	HL-60	blood:	n/a
18	chr1:151689587-151689637	AG09309	skin:	n/a
19	chr1:151689587-151689637	SAEC	small airway:	n/a
20	chr1:151689587-151689637	HAEpiC	amniotic membrane:	n/a
21	chr1:151689587-151689637	GM12892	blood:	n/a
22	chr1:151689587-151689637	GM12891	blood:	n/a
23	chr1:151689587-151689637	NH-A	brain:	n/a
24	chr1:151689587-151689637	AG04449	skin:	fetal
25	chr1:151689587-151689637	LNCaP	prostate:	n/a
26	chr1:151689587-151689637	SK-N-MC	brain:	n/a
27	chr1:151689587-151689637	HNPCEpiC	eye:	n/a
28	chr1:151689587-151689637	HepG2	liver:	n/a
29	chr1:151689587-151689637	PrEC	prostate:	n/a
30	chr1:151689587-151689637	NHDF-neo	bronchial:	n/a
31	chr1:151689587-151689637	GM19239	blood:	n/a
32	chr1:151689587-151689637	GM06990	blood:	n/a
33	chr1:151689587-151689637	HRPEpiC	eye:	n/a
34	chr1:151689587-151689637	RPTEC	kidney:	n/a
35	chr1:151689587-151689637	HCF	heart:	n/a
36	chr1:151689587-151689637	ovcar-3	ovarian:	n/a
37	chr1:151689587-151689637	HIPEpiC	eye:	n/a
38	chr1:151689587-151689637	AG09319	gingival:	n/a
39	chr1:151689587-151689637	Hepatocyte	liver:	n/a
40	chr1:151689587-151689637	HMEC	breast:	n/a
41	chr1:151689587-151689637	MCF10A-Er-Src	breast:	n/a
42	chr1:151689587-151689637	HCT-116	colon:	n/a
43	chr1:151689587-151689637	PANC-1	pancreas:	n/a
44	chr1:151689587-151689637	H1-hESC	embryonic stem cell:	embryo
45	chr1:151689587-151689637	NHBE	bronchial:	n/a
46	chr1:151689587-151689637	T-47D	breast:	n/a
47	chr1:151689587-151689637	SK-N-SH	brain:	n/a
48	chr1:151689587-151689637	ECC-1	luminal epithelium:	n/a
49	chr1:151689587-151689637	Caco-2	colon:	n/a
50	chr1:151689587-151689637	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151678494..151680189-chr1:151689404..151690946,2	K562	blood:
2	chr1:151525489..151528201-chr1:151689463..151691011,2	MCF-7	breast:
3	chr1:151481002..151483252-chr1:151687957..151690791,2	MCF-7	breast:
4	chr1:151689396..151691550-chr1:151693525..151696457,3	MCF-7	breast:
5	chr1:151510509..151513919-chr1:151688057..151691918,3	MCF-7	breast:
6	chr1:151688007..151690432-chr1:151699562..151701503,2	MCF-7	breast:

Variant related genes	Relation type
RIIAD1	TF binding region
CELF3	TF binding region
CELF3	CpG island
RIIAD1	CpG island
ENSG00000143375	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000178796	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11576810	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11586446	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1196467	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12122917	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1879533	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2489890	0.80[EUR][1000 genomes]

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151670000-151689800	Weak transcription	Pancreas	Pancrea
2	chr1:151685400-151689800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:151685400-151690000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:151685600-151690400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:151686400-151690000	Active TSS	Brain Cingulate Gyrus	brain
6	chr1:151686800-151690000	Active TSS	Brain Angular Gyrus	brain
7	chr1:151688000-151689800	Active TSS	Fetal Brain Female	brain
8	chr1:151688400-151689800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:151688600-151689800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:151688600-151689800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:151688600-151689800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:151688600-151689800	Active TSS	Brain Substantia Nigra	brain
13	chr1:151688600-151690000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr1:151688600-151690200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr1:151688600-151690200	Bivalent Enhancer	Fetal Thymus	thymus
16	chr1:151688800-151689800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:151688800-151689800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:151688800-151690000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr1:151689000-151689800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:151689000-151689800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:151689000-151690000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:151689000-151691200	Bivalent Enhancer	Placenta	Placenta
23	chr1:151689200-151689800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:151689200-151689800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:151689200-151689800	Active TSS	Brain Germinal Matrix	brain
26	chr1:151689200-151690000	Active TSS	Ovary	ovary
27	chr1:151689200-151692600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:151689400-151689800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:151689400-151689800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr1:151689400-151689800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr1:151689400-151689800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr1:151689400-151689800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
33	chr1:151689400-151689800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
34	chr1:151689400-151689800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:151689400-151689800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:151689400-151689800	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr1:151689400-151690000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:151689400-151690000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr1:151689400-151690000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr1:151689400-151690000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr1:151689400-151690000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:151689400-151690000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr1:151689400-151690000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:151689400-151690000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:151689400-151690000	Enhancers	Liver	Liver
46	chr1:151689400-151690000	Bivalent Enhancer	HepG2	liver
47	chr1:151689400-151690000	Bivalent Enhancer	NH-A	brain
48	chr1:151689400-151690200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
49	chr1:151689400-151690200	Flanking Active TSS	Fetal Brain Male	brain
50	chr1:151689400-151690200	Enhancers	K562	blood

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