Variant report

Variant	rs12724450
Chromosome Location	chr1:150480571-150480572
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	chr1:150480289-150480908	ProgFib	skin:	n/a	n/a
2	CHD2	chr1:150480539-150480592	K562	blood:	n/a	n/a
3	MAZ	chr1:150480334-150480947	K562	blood:	n/a	chr1:150480505-150480514
4	PML	chr1:150480284-150480767	K562	blood:	n/a	n/a
5	FOSL2	chr1:150480215-150480787	A549	lung:	n/a	chr1:150480506-150480514 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
6	TAF1	chr1:150480346-150480768	K562	blood:	n/a	n/a
7	RCOR1	chr1:150480416-150480593	Hela-S3	cervix:	n/a	n/a
8	FOS	chr1:150480348-150480669	MCF10A-Er-Src	breast:	n/a	chr1:150480506-150480514 chr1:150480504-150480515 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
9	POLR2A	chr1:150480270-150480903	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr1:150480306-150480720	HUVEC	blood vessel:	n/a	chr1:150480506-150480514 chr1:150480504-150480515 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
11	POLR2A	chr1:150480409-150480875	K562	blood:	n/a	n/a
12	HEY1	chr1:150480440-150480801	K562	blood:	n/a	n/a
13	POLR2A	chr1:150480064-150480867	K562	blood:	n/a	n/a
14	FOSL1	chr1:150480363-150480680	K562	blood:	n/a	chr1:150480506-150480514 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480504-150480515 chr1:150480506-150480514
15	POLR2A	chr1:150480239-150481042	Hela-S3	cervix:	n/a	n/a
16	MAFF	chr1:150480349-150480666	K562	blood:	n/a	n/a
17	CUX1	chr1:150480318-150480760	K562	blood:	n/a	n/a
18	POLR2A	chr1:150480396-150480740	Hela-S3	cervix:	n/a	n/a
19	REST	chr1:150480350-150480643	K562	blood:	n/a	n/a
20	ZC3H11A	chr1:150480398-150480615	K562	blood:	n/a	n/a
21	MYC	chr1:150480400-150480678	K562	blood:	n/a	chr1:150480505-150480514
22	FOS	chr1:150480326-150480669	MCF10A-Er-Src	breast:	n/a	chr1:150480506-150480514 chr1:150480504-150480515 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
23	GTF2F1	chr1:150480569-150480879	K562	blood:	n/a	n/a
24	TEAD4	chr1:150480221-150480944	K562	blood:	n/a	n/a
25	POLR2A	chr1:150480298-150482051	K562	blood:	n/a	n/a
26	TBL1XR1	chr1:150480319-150480641	K562	blood:	n/a	n/a
27	RAD21	chr1:150480325-150480619	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:150480440-150480583	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:150480411-150480841	K562	blood:	n/a	n/a
30	MAX	chr1:150480367-150480627	K562	blood:	n/a	chr1:150480505-150480514
31	POLR2A	chr1:150480177-150480924	PFSK-1	brain:	n/a	n/a
32	E2F4	chr1:150480331-150480721	MCF10A-Er-Src	breast:	n/a	n/a
33	ZNF143	chr1:150480314-150480625	K562	blood:	n/a	n/a
34	NR2F2	chr1:150480187-150480888	K562	blood:	n/a	n/a
35	SMC3	chr1:150480296-150480661	Hela-S3	cervix:	n/a	n/a
36	FOSL2	chr1:150480244-150480890	SK-N-SH	brain:	n/a	chr1:150480506-150480514 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
37	FOS	chr1:150480348-150480684	MCF10A-Er-Src	breast:	n/a	chr1:150480506-150480514 chr1:150480504-150480515 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
38	SIN3AK20	chr1:150480337-150480653	PFSK-1	brain:	n/a	n/a
39	ELK1	chr1:150480252-150480596	Hela-S3	cervix:	n/a	n/a
40	TBP	chr1:150480387-150480736	K562	blood:	n/a	n/a
41	NR2F2	chr1:150480277-150480674	K562	blood:	n/a	n/a
42	ZNF263	chr1:150480288-150480913	K562	blood:	n/a	chr1:150480427-150480448
43	JUND	chr1:150480351-150480716	A549	lung:	n/a	chr1:150480506-150480514 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
44	ATF3	chr1:150480261-150480726	K562	blood:	n/a	n/a
45	POLR2A	chr1:150480439-150480768	IMR90	lung:	n/a	n/a
46	FOSL1	chr1:150480332-150480745	K562	blood:	n/a	chr1:150480506-150480514 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480504-150480515 chr1:150480506-150480514
47	IRF1	chr1:150480295-150480704	K562	blood:	n/a	n/a
48	FOSL2	chr1:150480166-150480803	MCF-7	breast:	n/a	chr1:150480506-150480514 chr1:150480505-150480515 chr1:150480507-150480514 chr1:150480504-150480515 chr1:150480506-150480514
49	MAZ	chr1:150480230-150480694	Hela-S3	cervix:	n/a	chr1:150480505-150480514
50	GTF2F1	chr1:150480240-150480644	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150480534-150480584	SK-N-MC	brain:	n/a
2	chr1:150480534-150480584	HIPEpiC	eye:	n/a
3	chr1:150480534-150480584	PrEC	prostate:	n/a
4	chr1:150480534-150480584	HAEpiC	amniotic membrane:	n/a
5	chr1:150480534-150480584	A549	lung:	n/a
6	chr1:150480534-150480584	HCPEpiC	choroid plexus:	n/a
7	chr1:150480534-150480584	AG09309	skin:	n/a
8	chr1:150480534-150480584	HRE	kidney:	n/a
9	chr1:150480534-150480584	IMR90	lung:	fetal
10	chr1:150480534-150480584	NH-A	brain:	n/a
11	chr1:150480534-150480584	PFSK-1	brain:	n/a
12	chr1:150480534-150480584	HCM	heart:	n/a
13	chr1:150480534-150480584	Caco-2	colon:	n/a
14	chr1:150480534-150480584	HepG2	liver:	n/a
15	chr1:150480534-150480584	AG04449	skin:	fetal
16	chr1:150480534-150480584	AG09319	gingival:	n/a
17	chr1:150480534-150480584	HUVEC	blood vessel:	n/a
18	chr1:150480534-150480584	H1-hESC	embryonic stem cell:	embryo
19	chr1:150480534-150480584	T-47D	breast:	n/a
20	chr1:150480534-150480584	HL-60	blood:	n/a
21	chr1:150480534-150480584	PANC-1	pancreas:	n/a
22	chr1:150480534-150480584	GM06990	blood:	n/a
23	chr1:150480534-150480584	GM12892	blood:	n/a
24	chr1:150480534-150480584	AG04450	lung:	fetal
25	chr1:150480534-150480584	ovcar-3	ovarian:	n/a
26	chr1:150480534-150480584	AG10803	skin:	n/a
27	chr1:150480534-150480584	HMEC	breast:	n/a
28	chr1:150480534-150480584	MCF10A-Er-Src	breast:	n/a
29	chr1:150480534-150480584	NT2-D1	testis:	n/a
30	chr1:150480534-150480584	GM12878	blood:	n/a
31	chr1:150480534-150480584	SAEC	small airway:	n/a
32	chr1:150480534-150480584	LNCaP	prostate:	n/a
33	chr1:150480534-150480584	Hepatocyte	liver:	n/a
34	chr1:150480534-150480584	NB4	blood:	n/a
35	chr1:150480534-150480584	Jurkat	blood:	n/a
36	chr1:150480534-150480584	AoSMC	blood vessel:	n/a
37	chr1:150480534-150480584	HEEpiC	esophagus:	n/a
38	chr1:150480534-150480584	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:150480534-150480584	HCF	heart:	n/a
40	chr1:150480534-150480584	HRCEpiC	kidney:	n/a
41	chr1:150480534-150480584	MCF-7	breast:	n/a
42	chr1:150480534-150480584	GM12891	blood:	n/a
43	chr1:150480534-150480584	U87	brain:	n/a
44	chr1:150480534-150480584	K562	blood:	n/a
45	chr1:150480534-150480584	RPTEC	kidney:	n/a
46	chr1:150480534-150480584	BE2_C	brain:	n/a
47	chr1:150480534-150480584	HEK293	kidney:	embryo
48	chr1:150480534-150480584	SK-N-SH	brain:	n/a
49	chr1:150480534-150480584	ProgFib	skin:	n/a
50	chr1:150480534-150480584	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150459274..150461316-chr1:150480408..150482138,3	K562	blood:
2	chr1:150477376..150481637-chr1:150532635..150535451,4	K562	blood:
3	chr1:150336131..150338597-chr1:150480002..150483403,3	MCF-7	breast:
4	chr1:150474284..150478423-chr1:150479020..150481342,4	MCF-7	breast:
5	chr1:150475757..150478254-chr1:150479608..150481543,2	K562	blood:
6	chr1:150478979..150480696-chr1:150532672..150534624,2	K562	blood:
7	chr1:150336147..150338066-chr1:150480366..150481943,2	MCF-7	breast:
8	chr1:150479471..150482388-chr1:150523973..150526628,2	K562	blood:
9	chr1:150476754..150479355-chr1:150479749..150481749,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TARS2-1	chr1:150480558-150480755	NONHSAT006296
2	lnc-TARS2-1	chr1:150480570-150480755	NONHSAT006297

Variant related genes	Relation type
ECM1	TF binding region
ECM1	CpG island
ENSG00000203804	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143382	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11799813	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs11800656	1.00[ASN][1000 genomes]
rs11801190	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801255	1.00[YRI][hapmap]
rs11802612	1.00[ASN][1000 genomes]
rs11803448	1.00[ASN][1000 genomes]
rs11806171	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs11807119	1.00[ASN][1000 genomes]
rs11809332	1.00[ASN][1000 genomes]
rs11810419	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12723364	1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	1.00[ASN][1000 genomes]
rs12735903	1.00[ASN][1000 genomes]
rs12736584	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743761	1.00[ASN][1000 genomes]
rs12745672	1.00[ASN][1000 genomes]
rs12747619	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12749958	1.00[ASN][1000 genomes]
rs12756583	1.00[ASN][1000 genomes]
rs12759551	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs28495360	1.00[ASN][1000 genomes]
rs34001546	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34233130	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34307322	1.00[ASN][1000 genomes]
rs34347495	1.00[ASN][1000 genomes]
rs34448981	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34514406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34629240	0.82[EUR][1000 genomes]
rs34964511	1.00[ASN][1000 genomes]
rs35094010	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35347210	1.00[ASN][1000 genomes]
rs35437473	1.00[ASN][1000 genomes]
rs35762205	1.00[ASN][1000 genomes]
rs35839143	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35935423	1.00[ASN][1000 genomes]
rs4845	1.00[ASN][1000 genomes]
rs56214117	1.00[ASN][1000 genomes]
rs58427317	1.00[ASN][1000 genomes]
rs58853199	1.00[ASN][1000 genomes]
rs71515775	1.00[ASN][1000 genomes]
rs71622688	1.00[ASN][1000 genomes]
rs71622689	1.00[ASN][1000 genomes]
rs71622694	1.00[ASN][1000 genomes]
rs71622695	1.00[ASN][1000 genomes]
rs71622696	1.00[ASN][1000 genomes]
rs71622698	1.00[ASN][1000 genomes]
rs71622702	1.00[ASN][1000 genomes]
rs74124663	1.00[ASN][1000 genomes]
rs74124686	1.00[ASN][1000 genomes]
rs7517003	1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
2	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
3	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
4	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:150468000-150480800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:150468400-150480800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:150468600-150481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:150468600-150481000	Strong transcription	Thymus	Thymus
9	chr1:150468800-150483800	Strong transcription	Brain Germinal Matrix	brain
10	chr1:150471600-150480800	Strong transcription	Liver	Liver
11	chr1:150471800-150487400	Weak transcription	Fetal Brain Male	brain
12	chr1:150474400-150482000	Strong transcription	Primary T cells from cord blood	blood
13	chr1:150475000-150480600	Strong transcription	Dnd41	blood
14	chr1:150475000-150485400	Strong transcription	Fetal Brain Female	brain
15	chr1:150475200-150480800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:150475200-150481000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:150475400-150480600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:150476200-150486200	Strong transcription	Ovary	ovary
19	chr1:150476600-150481000	Strong transcription	Brain Cingulate Gyrus	brain
20	chr1:150477800-150487400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:150478000-150480800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:150478200-150487400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:150478400-150480800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:150478800-150481200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:150478800-150487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:150478800-150487400	Weak transcription	Psoas Muscle	Psoas
27	chr1:150478800-150487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:150479000-150481200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:150479000-150484200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:150479000-150487400	Weak transcription	Fetal Lung	lung
31	chr1:150479000-150487600	Weak transcription	Aorta	Aorta
32	chr1:150479400-150482800	Weak transcription	GM12878-XiMat	blood
33	chr1:150479400-150483400	Weak transcription	Gastric	stomach
34	chr1:150479400-150487400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:150479400-150487600	Weak transcription	Fetal Kidney	kidney
36	chr1:150479600-150481800	Weak transcription	Brain Substantia Nigra	brain
37	chr1:150479600-150483800	Weak transcription	Pancreas	Pancrea
38	chr1:150479600-150487200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:150479600-150487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:150479600-150487400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:150479600-150487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:150479600-150487400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:150479600-150487400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:150479600-150487400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:150479600-150487400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:150479600-150487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:150479600-150487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:150479800-150480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:150479800-150480600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:150479800-150480600	Weak transcription	Rectal Smooth Muscle	rectum

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