Variant report

Variant	rs533712323
Chromosome Location	chr1:151584039-151584040
allele	C/T
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	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
2	ZMIZ1	chr1:151583998-151584684	K562	blood:	n/a	n/a
3	NR3C1	chr1:151583736-151584190	A549	lung:	n/a	n/a
4	SRF	chr1:151583801-151584083	HepG2	liver:	n/a	n/a
5	BHLHE40	chr1:151583721-151584734	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:151583773-151584484	K562	blood:	n/a	n/a
7	SREBP1	chr1:151583792-151584923	GM12878	blood:	n/a	n/a
8	TBP	chr1:151583773-151584543	HepG2	liver:	n/a	n/a
9	STAT3	chr1:151583791-151584475	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr1:151584008-151585079	A549	lung:	n/a	n/a
11	MAX	chr1:151583767-151584946	Hela-S3	cervix:	n/a	chr1:151584441-151584451
12	REST	chr1:151583712-151584414	HL-60	blood:	n/a	n/a
13	CEBPB	chr1:151583720-151584418	K562	blood:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
14	CEBPB	chr1:151583632-151584821	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
15	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
16	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
17	USF2	chr1:151583683-151584476	Hela-S3	cervix:	n/a	chr1:151583962-151583973
18	CEBPB	chr1:151583688-151584485	Hela-S3	cervix:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
19	USF2	chr1:151583721-151584099	HepG2	liver:	n/a	chr1:151583962-151583973
20	FOXA1	chr1:151583682-151584205	HepG2	liver:	n/a	n/a
21	NR3C1	chr1:151583764-151584046	A549	lung:	n/a	n/a
22	ZKSCAN1	chr1:151583818-151584713	Hela-S3	cervix:	n/a	n/a
23	MAX	chr1:151583757-151584131	K562	blood:	n/a	n/a
24	STAT3	chr1:151583875-151584134	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA1	chr1:151583721-151584044	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:151583583-151584431	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
27	CTCF	chr1:151583960-151584110	HAc	cerebellar:	n/a	n/a
28	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
29	USF1	chr1:151583667-151584193	A549	lung:	n/a	chr1:151583963-151583974
30	USF1	chr1:151583843-151584050	HepG2	liver:	n/a	chr1:151583963-151583974
31	MAFK	chr1:151583794-151584499	Hela-S3	cervix:	n/a	n/a
32	GTF2F1	chr1:151583813-151584536	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:151583951-151585414	Raji	blood:	n/a	n/a
34	MAZ	chr1:151583916-151584947	HepG2	liver:	n/a	chr1:151584441-151584451
35	MYC	chr1:151583889-151585025	K562	blood:	n/a	chr1:151584441-151584451
36	RCOR1	chr1:151583876-151584644	HepG2	liver:	n/a	n/a
37	SIX5	chr1:151583737-151584806	A549	lung:	n/a	chr1:151584364-151584373 chr1:151584362-151584376 chr1:151584458-151584467 chr1:151584456-151584470 chr1:151584460-151584469 chr1:151584366-151584375
38	CEBPB	chr1:151583809-151584251	ECC-1	luminal epithelium:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
39	CEBPB	chr1:151583827-151584469	H1-hESC	embryonic stem cell:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
40	SRF	chr1:151583795-151584039	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:151583785-151584201	K562	blood:	n/a	chr1:151583999-151584010 chr1:151583997-151584008 chr1:151583999-151584008
42	MAX	chr1:151583597-151585659	A549	lung:	n/a	chr1:151584441-151584451
43	EP300	chr1:151583723-151584205	Hela-S3	cervix:	n/a	chr1:151584167-151584175
44	HCFC1	chr1:151583005-151585633	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:151583647-151584690	HL-60	blood:	n/a	n/a
46	ELF1	chr1:151583857-151584162	HepG2	liver:	n/a	n/a
47	RXRA	chr1:151583774-151584110	HepG2	liver:	n/a	n/a
48	ELF1	chr1:151583726-151584775	MCF-7	breast:	n/a	n/a
49	FOS	chr1:151583656-151584402	MCF10A-Er-Src	breast:	n/a	chr1:151584248-151584257 chr1:151584247-151584256
50	USF1	chr1:151583807-151584079	HepG2	liver:	n/a	chr1:151583963-151583974

No.	Distal block	Cell Line	Cell type
1	chr1:151580809..151584127-chr1:151586626..151590699,5	MCF-7	breast:
2	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
3	chr1:114447837..114448427-chr1:151583823..151584662,2	Hela-S3	cervix:
4	chr1:151583806..151586204-chr1:151610936..151612672,2	MCF-7	breast:
5	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
6	chr1:151430633..151432391-chr1:151583582..151586341,2	MCF-7	breast:
7	chr1:151582188..151584894-chr1:151679011..151681614,2	MCF-7	breast:
8	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
9	chr1:151583782..151586135-chr6:26156499..26159013,2	MCF-7	breast:

Variant related genes	Relation type
SNX27	TF binding region
ENSG00000232536	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000159409	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151581000-151584200	Weak transcription	Fetal Stomach	stomach
2	chr1:151581200-151584200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:151581600-151584200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:151582600-151584200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:151582600-151584200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:151582800-151584200	Enhancers	Fetal Intestine Small	intestine
7	chr1:151583200-151584200	Enhancers	Gastric	stomach
8	chr1:151583400-151584200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:151583600-151584200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:151583600-151584200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:151583600-151584200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr1:151583600-151584200	Flanking Active TSS	HepG2	liver
13	chr1:151583600-151584200	Enhancers	HSMM	muscle
14	chr1:151583600-151584200	Enhancers	NHEK	skin
15	chr1:151583600-151584400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:151583600-151584400	Enhancers	HMEC	breast
17	chr1:151583600-151584600	Enhancers	Stomach Mucosa	stomach
18	chr1:151583800-151584200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:151583800-151584200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:151583800-151584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:151583800-151584200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:151583800-151584200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:151583800-151584200	Enhancers	Liver	Liver
24	chr1:151583800-151584200	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr1:151583800-151584200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:151583800-151584200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:151583800-151584200	Enhancers	Brain Substantia Nigra	brain
28	chr1:151583800-151584200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:151583800-151584200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:151583800-151584200	Flanking Active TSS	Fetal Kidney	kidney
31	chr1:151583800-151584200	Enhancers	Left Ventricle	heart
32	chr1:151583800-151584200	Enhancers	Ovary	ovary
33	chr1:151583800-151584200	Enhancers	Pancreas	Pancrea
34	chr1:151583800-151584200	Enhancers	Psoas Muscle	Psoas
35	chr1:151583800-151584200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:151583800-151584200	Enhancers	NH-A	brain
37	chr1:151583800-151584400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:151583800-151584400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:151583800-151584400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:151583800-151584400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:151583800-151584400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:151583800-151584400	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:151583800-151584400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:151583800-151584400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:151583800-151584400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:151583800-151584400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:151583800-151584400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:151583800-151584400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr1:151583800-151584400	Enhancers	Esophagus	oesophagus
50	chr1:151583800-151584400	Enhancers	Fetal Muscle Leg	muscle

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