Variant report

Variant	rs9887870
Chromosome Location	chr1:151254558-151254559
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	FOXP2	chr1:151254096-151254888	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr1:151253549-151255661	HUVEC	blood vessel:	n/a	n/a
3	NFYB	chr1:151253750-151254973	K562	blood:	n/a	chr1:151254576-151254591 chr1:151254535-151254550
4	EBF1	chr1:151254219-151254740	GM12878	blood:	n/a	n/a
5	USF2	chr1:151253649-151254736	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:151253562-151255474	GM10847	blood:	n/a	n/a
7	FOS	chr1:151253678-151254572	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:151253351-151256536	H1-hESC	embryonic stem cell:	n/a	n/a
9	NFYA	chr1:151253760-151254992	GM12878	blood:	n/a	n/a
10	GABPA	chr1:151253666-151254974	A549	lung:	n/a	chr1:151253846-151253855
11	REST	chr1:151253552-151254656	HL-60	blood:	n/a	n/a
12	GABPA	chr1:151253751-151254967	Hela-S3	cervix:	n/a	chr1:151253846-151253855
13	STAT1	chr1:151253617-151255051	GM12878	blood:	n/a	chr1:151253765-151253777 chr1:151254936-151254948
14	MXI1	chr1:151253308-151255956	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr1:151254527-151255089	HepG2	liver:	n/a	n/a
16	SIN3AK20	chr1:151253536-151255516	PANC-1	pancreas:	n/a	n/a
17	MAX	chr1:151253485-151256229	HepG2	liver:	n/a	chr1:151255644-151255654 chr1:151256051-151256061 chr1:151255641-151255651
18	CBX3	chr1:151253271-151255348	K562	blood:	n/a	n/a
19	POLR2A	chr1:151253859-151255203	HepG2	liver:	n/a	n/a
20	EBF1	chr1:151254087-151255110	GM12878	blood:	n/a	n/a
21	RELA	chr1:151253770-151255176	GM18951	blood:	n/a	n/a
22	MAX	chr1:151253542-151254583	K562	blood:	n/a	n/a
23	POLR2A	chr1:151253509-151255405	Raji	blood:	n/a	n/a
24	FOXA1	chr1:151254496-151255196	HepG2	liver:	n/a	n/a
25	MAZ	chr1:151253573-151256028	GM12878	blood:	n/a	chr1:151255644-151255654 chr1:151255641-151255651
26	ELK1	chr1:151253656-151254833	Hela-S3	cervix:	n/a	chr1:151253991-151254000 chr1:151253991-151254000
27	TCF12	chr1:151254198-151254631	GM12878	blood:	n/a	n/a
28	MAX	chr1:151253470-151255061	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr1:151253540-151254867	ECC-1	luminal epithelium:	n/a	chr1:151254191-151254204
30	MYC	chr1:151253666-151254964	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr1:151253562-151254929	H1-hESC	embryonic stem cell:	n/a	chr1:151253776-151253785 chr1:151253802-151253814 chr1:151253805-151253813 chr1:151253806-151253813 chr1:151253806-151253813 chr1:151253846-151253855 chr1:151253803-151253814 chr1:151253806-151253813 chr1:151253846-151253858
32	ZBTB33	chr1:151253832-151254880	A549	lung:	n/a	n/a
33	POU2F2	chr1:151253519-151254990	GM12891	blood:	n/a	chr1:151254935-151254947 chr1:151254737-151254749 chr1:151253843-151253855
34	ATF2	chr1:151253578-151255023	GM12878	blood:	n/a	n/a
35	RUNX3	chr1:151253551-151255297	GM12878	blood:	n/a	n/a
36	RCOR1	chr1:151253537-151255558	K562	blood:	n/a	n/a
37	POLR2A	chr1:151253247-151256985	GM12878	blood:	n/a	n/a
38	SIX5	chr1:151254154-151254671	A549	lung:	n/a	n/a
39	BRCA1	chr1:151253741-151255167	HepG2	liver:	n/a	n/a
40	FAM48A	chr1:151254478-151254770	GM12878	blood:	n/a	n/a
41	PAX5	chr1:151254149-151255068	GM12878	blood:	n/a	n/a
42	ELF1	chr1:151253418-151256101	GM12878	blood:	n/a	chr1:151255831-151255844 chr1:151255378-151255390
43	WRNIP1	chr1:151253631-151254895	GM12878	blood:	n/a	n/a
44	E2F6	chr1:151253394-151255668	H1-hESC	embryonic stem cell:	n/a	chr1:151255640-151255649 chr1:151253776-151253785 chr1:151253802-151253814 chr1:151253805-151253813 chr1:151254973-151254982 chr1:151255207-151255216 chr1:151253806-151253813 chr1:151253806-151253813 chr1:151253846-151253855 chr1:151253803-151253814 chr1:151253806-151253813 chr1:151255112-151255122 chr1:151253846-151253858
45	E2F6	chr1:151253472-151255029	K562	blood:	n/a	chr1:151253776-151253785 chr1:151253802-151253814 chr1:151253805-151253813 chr1:151254973-151254982 chr1:151253806-151253813 chr1:151253806-151253813 chr1:151253846-151253855 chr1:151253803-151253814 chr1:151253806-151253813 chr1:151253846-151253858
46	ZEB1	chr1:151253908-151254907	GM12878	blood:	n/a	chr1:151254417-151254426
47	TEAD4	chr1:151253631-151254573	K562	blood:	n/a	n/a
48	POLR2A	chr1:151253367-151255932	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr1:151253533-151255207	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr1:151253486-151255571	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151252318..151256662-chr1:151278805..151282568,3	MCF-7	breast:
2	chr1:151236628..151240261-chr1:151252418..151256646,5	K562	blood:
3	chr1:151234999..151238320-chr1:151251915..151256083,5	MCF-7	breast:
4	chr1:151230341..151233216-chr1:151253682..151256078,3	MCF-7	breast:
5	chr1:151254308..151256785-chr1:151512305..151514288,3	MCF-7	breast:
6	chr1:151253853..151259248-chr1:151295350..151301325,11	K562	blood:
7	chr1:151254368..151255147-chr15:45459225..45460088,2	Hela-S3	cervix:
8	chr1:151165541..151174157-chr1:151252015..151257857,16	MCF-7	breast:
9	chr1:151253871..151256135-chr1:151314130..151317235,4	K562	blood:
10	chr1:151254429..151257729-chr1:151370560..151375073,7	MCF-7	breast:
11	chr1:151252184..151258894-chr1:151295105..151301119,15	MCF-7	breast:
12	chr1:151254466..151255242-chr2:25015707..25016501,2	Hela-S3	cervix:
13	chr1:151254330..151257054-chr1:151298258..151300253,2	K562	blood:
14	chr1:151171136..151172895-chr1:151252862..151254583,2	K562	blood:
15	chr1:151168724..151174586-chr1:151252405..151256834,10	MCF-7	breast:
16	chr1:151117616..151120860-chr1:151252294..151255501,4	K562	blood:
17	chr1:151254480..151256114-chr6:26019497..26022258,2	MCF-7	breast:
18	chr1:151252248..151255623-chr1:151318407..151321879,5	MCF-7	breast:
19	chr1:151118809..151120860-chr1:151252294..151254808,2	K562	blood:
20	1:151254384-151268403..1:151402394-151411623	GM12878	blood:
21	chr1:151253109..151257431-chr1:151311446..151315369,6	MCF-7	breast:
22	chr1:151161136..151164205-chr1:151252246..151255061,3	K562	blood:
23	chr1:151162643..151164803-chr1:151253771..151256720,2	K562	blood:
24	chr1:151252229..151256416-chr1:151370480..151373573,6	MCF-7	breast:
25	chr1:151225526..151228725-chr1:151252382..151257550,9	K562	blood:
26	chr1:151042356..151044958-chr1:151252271..151256325,4	K562	blood:
27	chr1:151254146..151254899-chr3:176914708..176915238,2	Hela-S3	cervix:
28	chr1:151253042..151255866-chr1:151318395..151322175,4	K562	blood:
29	chr1:151253996..151254729-chr12:52445102..52445994,2	Hela-S3	cervix:
30	chr1:151227100..151227668-chr1:151253722..151254586,2	Hela-S3	cervix:
31	chr1:151164944..151168688-chr1:151252728..151255250,4	MCF-7	breast:
32	chr1:151253705..151254595-chr5:147763367..147763954,2	Hela-S3	cervix:
33	chr1:151253682..151256795-chr1:151298712..151301104,5	MCF-7	breast:
34	chr1:151253915..151254758-chr17:20058799..20059680,2	Hela-S3	cervix:
35	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
36	chr1:151254413..151255152-chr1:151319252..151319776,2	Hela-S3	cervix:
37	1:151171193-151178589..1:151254384-151268403	Hela-S3	cervix:
38	chr1:151253485..151255699-chr1:151429417..151432153,4	K562	blood:
39	chr1:151252692..151257354-chr1:151370358..151373702,7	K562	blood:
40	chr1:151253402..151256437-chr1:151318501..151320102,3	MCF-7	breast:
41	chr1:150954083..150955944-chr1:151254218..151255800,2	MCF-7	breast:
42	chr1:151222463..151229121-chr1:151253476..151256667,10	MCF-7	breast:
43	chr1:151253287..151255470-chr1:151344558..151346132,2	MCF-7	breast:
44	chr1:151225998..151229280-chr1:151252382..151256725,6	K562	blood:
45	chr1:151253841..151255362-chr1:151735599..151737592,2	K562	blood:
46	chr1:151137510..151139116-chr1:151253769..151255461,2	K562	blood:
47	chr1:151042976..151044739-chr1:151252844..151254871,2	K562	blood:
48	chr1:151224415..151228832-chr1:151251866..151257138,17	MCF-7	breast:
49	chr1:151252566..151256216-chr1:151370228..151373702,9	K562	blood:

Variant related genes	Relation type
ZNF687	TF binding region
ENSG00000232671	TF binding region
ENSG00000163159	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000177565	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143412	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000128487	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000184924	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000138092	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11204788	1.00[AMR][1000 genomes]
rs11204789	1.00[AMR][1000 genomes]
rs11204790	1.00[AMR][1000 genomes]
rs11204797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204799	1.00[AMR][1000 genomes]
rs11204800	1.00[AMR][1000 genomes]
rs11204801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204804	1.00[AMR][1000 genomes]
rs12057875	1.00[AMR][1000 genomes]
rs12058806	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065050	1.00[AMR][1000 genomes]
rs12071605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077026	1.00[AMR][1000 genomes]
rs12077958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080668	1.00[AMR][1000 genomes]
rs12082248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087802	1.00[AMR][1000 genomes]
rs12090291	1.00[AMR][1000 genomes]
rs12092749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094954	1.00[AMR][1000 genomes]
rs61751621	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 target site	106 gene(s)	inside rSNPs	diseases
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151253200-151255400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:151253200-151255400	Active TSS	Adipose Nuclei	Adipose
3	chr1:151253200-151255600	Active TSS	Hela-S3	cervix
4	chr1:151253200-151256000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:151253400-151254600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:151253400-151254800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:151253400-151254800	Active TSS	Fetal Brain Female	brain
8	chr1:151253400-151255400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:151253400-151255400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:151253400-151255400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:151253400-151255400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:151253400-151255400	Active TSS	Brain Angular Gyrus	brain
13	chr1:151253400-151255600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:151253400-151255600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151253400-151255600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:151253400-151255600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:151253400-151255600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:151253400-151255600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:151253400-151255600	Active TSS	Fetal Lung	lung
20	chr1:151253400-151255600	Active TSS	Left Ventricle	heart
21	chr1:151253400-151255600	Active TSS	Right Atrium	heart
22	chr1:151253400-151255600	Active TSS	Right Ventricle	heart
23	chr1:151253400-151255600	Active TSS	GM12878-XiMat	blood
24	chr1:151253400-151255800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:151253400-151255800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:151253400-151255800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:151253400-151255800	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:151253400-151255800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:151253400-151255800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:151253400-151255800	Active TSS	HSMM	muscle
31	chr1:151253400-151256000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:151253400-151256000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:151253400-151256000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:151253400-151256000	Active TSS	Colon Smooth Muscle	Colon
35	chr1:151253400-151256000	Active TSS	Psoas Muscle	Psoas
36	chr1:151253400-151256000	Active TSS	NHLF	lung
37	chr1:151253400-151256200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:151253400-151256200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:151253400-151256200	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:151253400-151256200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:151253400-151256200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:151253400-151256200	Active TSS	HSMMtube	muscle
43	chr1:151253400-151256400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:151253400-151256600	Active TSS	A549	lung
45	chr1:151253400-151256800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:151253600-151255000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:151253600-151255200	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr1:151253600-151255200	Active TSS	Brain Germinal Matrix	brain
49	chr1:151253600-151255400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr1:151253600-151255400	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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