Variant report

Variant	rs536412696
Chromosome Location	chr1:151584326-151584327
allele	A/C
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	chr1:151584281-151585111	HepG2	liver:	n/a	n/a
2	ZNF143	chr1:151583810-151584814	Hela-S3	cervix:	n/a	chr1:151584458-151584476 chr1:151584462-151584481 chr1:151584366-151584375 chr1:151584460-151584469 chr1:151584458-151584467 chr1:151584364-151584382 chr1:151584364-151584373
3	ZMIZ1	chr1:151583998-151584684	K562	blood:	n/a	n/a
4	NR2F2	chr1:151584123-151584786	K562	blood:	n/a	n/a
5	JUN	chr1:151584244-151584546	K562	blood:	n/a	chr1:151584248-151584257 chr1:151584247-151584256
6	POLR2A	chr1:151584175-151584868	GM12878	blood:	n/a	n/a
7	SIN3AK20	chr1:151584244-151585048	SK-N-SH	brain:	n/a	n/a
8	YY1	chr1:151584243-151584831	A549	lung:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
9	BHLHE40	chr1:151583721-151584734	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:151583773-151584484	K562	blood:	n/a	n/a
11	POLR2A	chr1:151584314-151584883	ECC-1	luminal epithelium:	n/a	n/a
12	SREBP1	chr1:151583792-151584923	GM12878	blood:	n/a	n/a
13	YY1	chr1:151584198-151585011	ECC-1	luminal epithelium:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
14	TBP	chr1:151583773-151584543	HepG2	liver:	n/a	n/a
15	STAT3	chr1:151583791-151584475	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr1:151584271-151585446	GM12878	blood:	n/a	n/a
17	GATA3	chr1:151584008-151585079	A549	lung:	n/a	n/a
18	MAX	chr1:151583767-151584946	Hela-S3	cervix:	n/a	chr1:151584441-151584451
19	REST	chr1:151584323-151584874	ECC-1	luminal epithelium:	n/a	chr1:151584432-151584442
20	MXI1	chr1:151584263-151584499	K562	blood:	n/a	n/a
21	REST	chr1:151583712-151584414	HL-60	blood:	n/a	n/a
22	FOXA1	chr1:151584241-151584554	T-47D	breast:	n/a	n/a
23	CEBPB	chr1:151583720-151584418	K562	blood:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
24	YY1	chr1:151584262-151584990	ECC-1	luminal epithelium:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
25	SP1	chr1:151584085-151584687	A549	lung:	n/a	chr1:151584504-151584513 chr1:151584435-151584446 chr1:151584437-151584446 chr1:151584436-151584445 chr1:151584435-151584447 chr1:151584436-151584445
26	CEBPB	chr1:151583632-151584821	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
27	EGR1	chr1:151583675-151585014	MCF-7	breast:	n/a	chr1:151584247-151584260 chr1:151584502-151584516 chr1:151584457-151584481 chr1:151584438-151584451 chr1:151584438-151584451 chr1:151584439-151584448 chr1:151584438-151584451 chr1:151584442-151584452 chr1:151584363-151584387 chr1:151584438-151584448 chr1:151584437-151584452 chr1:151584438-151584451 chr1:151584247-151584257 chr1:151584437-151584451 chr1:151584439-151584450
28	POLR2A	chr1:151584323-151585033	ECC-1	luminal epithelium:	n/a	n/a
29	TAF1	chr1:151584217-151584993	ECC-1	luminal epithelium:	n/a	n/a
30	ETS1	chr1:151583978-151584767	A549	lung:	n/a	chr1:151584457-151584470 chr1:151584440-151584451 chr1:151584367-151584374 chr1:151584247-151584258 chr1:151584363-151584376 chr1:151584437-151584448
31	USF2	chr1:151583683-151584476	Hela-S3	cervix:	n/a	chr1:151583962-151583973
32	ZBTB7A	chr1:151584317-151584815	K562	blood:	n/a	n/a
33	CEBPB	chr1:151583688-151584485	Hela-S3	cervix:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
34	SIX5	chr1:151584182-151584613	K562	blood:	n/a	chr1:151584364-151584373 chr1:151584362-151584376 chr1:151584458-151584467 chr1:151584456-151584470 chr1:151584460-151584469 chr1:151584366-151584375
35	YY1	chr1:151584229-151585047	SK-N-SH_RA	brain:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
36	FOXA1	chr1:151584248-151584696	HepG2	liver:	n/a	n/a
37	EBF1	chr1:151584242-151584671	GM12878	blood:	n/a	chr1:151584465-151584476
38	MAX	chr1:151584280-151585336	GM12878	blood:	n/a	chr1:151584441-151584451
39	ZKSCAN1	chr1:151583818-151584713	Hela-S3	cervix:	n/a	n/a
40	YY1	chr1:151584229-151585008	K562	blood:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
41	POLR2A	chr1:151584165-151585091	PFSK-1	brain:	n/a	n/a
42	YY1	chr1:151584192-151585078	GM12878	blood:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
43	CEBPB	chr1:151583583-151584431	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
44	YY1	chr1:151584221-151584986	GM12878	blood:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
45	SP1	chr1:151584032-151584748	A549	lung:	n/a	chr1:151584504-151584513 chr1:151584435-151584446 chr1:151584437-151584446 chr1:151584436-151584445 chr1:151584435-151584447 chr1:151584436-151584445
46	YY1	chr1:151584208-151585422	H1-hESC	embryonic stem cell:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
47	ELK1	chr1:151584271-151584590	K562	blood:	n/a	n/a
48	IRF1	chr1:151584110-151584694	K562	blood:	n/a	chr1:151584433-151584447
49	POLR2A	chr1:151584200-151585449	K562	blood:	n/a	n/a
50	POLR2A	chr1:151584303-151585483	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
2	chr1:114447837..114448427-chr1:151583823..151584662,2	Hela-S3	cervix:
3	chr1:151583806..151586204-chr1:151610936..151612672,2	MCF-7	breast:
4	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
5	chr1:151430633..151432391-chr1:151583582..151586341,2	MCF-7	breast:
6	chr1:151582188..151584894-chr1:151679011..151681614,2	MCF-7	breast:
7	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
8	chr1:151583782..151586135-chr6:26156499..26159013,2	MCF-7	breast:

Variant related genes	Relation type
SNX27	TF binding region
ENSG00000182134	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000143376	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	90 gene(s)	inside rSNPs	diseases
2	esv3354758	chr1:151583553-151586301	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151583600-151584400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:151583600-151584400	Enhancers	HMEC	breast
3	chr1:151583600-151584600	Enhancers	Stomach Mucosa	stomach
4	chr1:151583800-151584400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:151583800-151584400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:151583800-151584400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:151583800-151584400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:151583800-151584400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:151583800-151584400	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:151583800-151584400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr1:151583800-151584400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:151583800-151584400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:151583800-151584400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:151583800-151584400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:151583800-151584400	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr1:151583800-151584400	Enhancers	Esophagus	oesophagus
17	chr1:151583800-151584400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:151583800-151584400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:151583800-151584400	Enhancers	Right Atrium	heart
20	chr1:151583800-151584400	Enhancers	Small Intestine	intestine
21	chr1:151583800-151584400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr1:151583800-151584400	Flanking Active TSS	A549	lung
23	chr1:151583800-151584400	Flanking Active TSS	Dnd41	blood
24	chr1:151583800-151584400	Flanking Active TSS	Hela-S3	cervix
25	chr1:151583800-151584400	Enhancers	HUVEC	blood vessel
26	chr1:151583800-151584400	Flanking Active TSS	NHDF-Ad	bronchial
27	chr1:151583800-151584400	Flanking Active TSS	Osteobl	bone
28	chr1:151583800-151586800	Active TSS	GM12878-XiMat	blood
29	chr1:151584000-151584400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:151584000-151584400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:151584000-151584400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:151584000-151584400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:151584000-151584400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:151584000-151584400	Enhancers	Primary T cells from cord blood	blood
35	chr1:151584000-151584400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr1:151584000-151584400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:151584000-151584400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr1:151584000-151584400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:151584000-151584400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:151584000-151584400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:151584000-151584400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:151584000-151584400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:151584000-151584400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:151584000-151584400	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr1:151584000-151584400	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr1:151584000-151584400	Flanking Active TSS	Placenta	Placenta
47	chr1:151584000-151584400	Enhancers	Fetal Thymus	thymus
48	chr1:151584000-151584400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:151584000-151584400	Enhancers	NHLF	lung
50	chr1:151584000-151584600	Enhancers	Fetal Heart	heart

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