Variant report

Variant	rs73000031
Chromosome Location	chr1:151584478-151584479
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	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	UBTF	chr1:151584342-151584533	K562	blood:	n/a	n/a
4	ZMIZ1	chr1:151583998-151584684	K562	blood:	n/a	n/a
5	NR2F2	chr1:151584123-151584786	K562	blood:	n/a	n/a
6	JUN	chr1:151584244-151584546	K562	blood:	n/a	chr1:151584248-151584257 chr1:151584247-151584256
7	POLR2A	chr1:151584175-151584868	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr1:151584244-151585048	SK-N-SH	brain:	n/a	n/a
9	YY1	chr1:151584243-151584831	A549	lung:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
10	BHLHE40	chr1:151583721-151584734	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:151583773-151584484	K562	blood:	n/a	n/a
12	POLR2A	chr1:151584314-151584883	ECC-1	luminal epithelium:	n/a	n/a
13	E2F6	chr1:151584360-151585041	K562	blood:	n/a	chr1:151584434-151584446 chr1:151584504-151584513 chr1:151584437-151584446
14	SREBP1	chr1:151583792-151584923	GM12878	blood:	n/a	n/a
15	YY1	chr1:151584198-151585011	ECC-1	luminal epithelium:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
16	TBP	chr1:151583773-151584543	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:151584271-151585446	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:151584456-151585359	A549	lung:	n/a	n/a
19	GATA3	chr1:151584008-151585079	A549	lung:	n/a	n/a
20	MAX	chr1:151583767-151584946	Hela-S3	cervix:	n/a	chr1:151584441-151584451
21	REST	chr1:151584323-151584874	ECC-1	luminal epithelium:	n/a	chr1:151584432-151584442
22	POLR2A	chr1:151584422-151584955	A549	lung:	n/a	n/a
23	MXI1	chr1:151584263-151584499	K562	blood:	n/a	n/a
24	FOXA1	chr1:151584241-151584554	T-47D	breast:	n/a	n/a
25	YY1	chr1:151584262-151584990	ECC-1	luminal epithelium:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
26	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
27	CEBPB	chr1:151583632-151584821	MCF-7	breast:	n/a	chr1:151583999-151584010 chr1:151584231-151584244 chr1:151583997-151584008 chr1:151583999-151584008
28	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
29	POLR2A	chr1:151584323-151585033	ECC-1	luminal epithelium:	n/a	n/a
30	TAF1	chr1:151584217-151584993	ECC-1	luminal epithelium:	n/a	n/a
31	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
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	TBL1XR1	chr1:151584358-151584484	K562	blood:	n/a	n/a
40	ZKSCAN1	chr1:151583818-151584713	Hela-S3	cervix:	n/a	n/a
41	TBL1XR1	chr1:151584328-151584574	K562	blood:	n/a	n/a
42	POLR2A	chr1:151584348-151584922	K562	blood:	n/a	n/a
43	YY1	chr1:151584229-151585008	K562	blood:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
44	POLR2A	chr1:151584165-151585091	PFSK-1	brain:	n/a	n/a
45	TAF1	chr1:151584399-151584954	K562	blood:	n/a	n/a
46	YY1	chr1:151584192-151585078	GM12878	blood:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
47	TAF1	chr1:151584377-151584991	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr1:151584221-151584986	GM12878	blood:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449
49	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
50	YY1	chr1:151584208-151585422	H1-hESC	embryonic stem cell:	n/a	chr1:151584437-151584446 chr1:151584667-151584687 chr1:151584440-151584449

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151584446-151584496	PANC-1	pancreas:	n/a
2	chr1:151584446-151584496	K562	blood:	n/a
3	chr1:151584446-151584496	PrEC	prostate:	n/a
4	chr1:151584446-151584496	AG09309	skin:	n/a
5	chr1:151584446-151584496	AG10803	skin:	n/a
6	chr1:151584446-151584496	AG04450	lung:	fetal
7	chr1:151584446-151584496	HEK293	kidney:	embryo
8	chr1:151584446-151584496	PFSK-1	brain:	n/a
9	chr1:151584446-151584496	AG09319	gingival:	n/a
10	chr1:151584446-151584496	SKMC	muscle:	n/a
11	chr1:151584446-151584496	HMEC	breast:	n/a
12	chr1:151584446-151584496	AG04449	skin:	fetal
13	chr1:151584446-151584496	HUVEC	blood vessel:	n/a
14	chr1:151584446-151584496	HL-60	blood:	n/a
15	chr1:151584446-151584496	GM06990	blood:	n/a
16	chr1:151584446-151584496	HRE	kidney:	n/a
17	chr1:151584446-151584496	AoSMC	blood vessel:	n/a
18	chr1:151584446-151584496	SAEC	small airway:	n/a
19	chr1:151584446-151584496	GM12878	blood:	n/a
20	chr1:151584446-151584496	GM19239	blood:	n/a
21	chr1:151584446-151584496	LNCaP	prostate:	n/a
22	chr1:151584446-151584496	Hepatocyte	liver:	n/a
23	chr1:151584446-151584496	SK-N-SH_RA	brain:	n/a
24	chr1:151584446-151584496	CMK	blood:	n/a
25	chr1:151584446-151584496	HRCEpiC	kidney:	n/a
26	chr1:151584446-151584496	HCF	heart:	n/a
27	chr1:151584446-151584496	NHDF-neo	bronchial:	n/a
28	chr1:151584446-151584496	IMR90	lung:	fetal
29	chr1:151584446-151584496	HCT-116	colon:	n/a
30	chr1:151584446-151584496	ProgFib	skin:	n/a
31	chr1:151584446-151584496	HNPCEpiC	eye:	n/a
32	chr1:151584446-151584496	SK-N-MC	brain:	n/a
33	chr1:151584446-151584496	HCPEpiC	choroid plexus:	n/a
34	chr1:151584446-151584496	NB4	blood:	n/a
35	chr1:151584446-151584496	A549	lung:	n/a
36	chr1:151584446-151584496	HCM	heart:	n/a
37	chr1:151584446-151584496	U87	brain:	n/a
38	chr1:151584446-151584496	SK-N-SH	brain:	n/a
39	chr1:151584446-151584496	HRPEpiC	eye:	n/a
40	chr1:151584446-151584496	H1-hESC	embryonic stem cell:	embryo
41	chr1:151584446-151584496	BE2_C	brain:	n/a
42	chr1:151584446-151584496	NH-A	brain:	n/a
43	chr1:151584446-151584496	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:151584446-151584496	ovcar-3	ovarian:	n/a
45	chr1:151584446-151584496	HEEpiC	esophagus:	n/a
46	chr1:151584446-151584496	GM12891	blood:	n/a
47	chr1:151584446-151584496	Jurkat	blood:	n/a
48	chr1:151584446-151584496	HepG2	liver:	n/a
49	chr1:151584446-151584496	RPTEC	kidney:	n/a
50	chr1:151584446-151584496	BJ	skin:	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
SNX27	CpG island
ENSG00000143376	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000203288	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16833204	1.00[AMR][1000 genomes]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151583600-151584600	Enhancers	Stomach Mucosa	stomach
2	chr1:151583800-151586800	Active TSS	GM12878-XiMat	blood
3	chr1:151584000-151584600	Enhancers	Fetal Heart	heart
4	chr1:151584000-151585000	Active TSS	Primary B cells from cord blood	blood
5	chr1:151584000-151585200	Active TSS	Adipose Nuclei	Adipose
6	chr1:151584000-151585400	Active TSS	Primary hematopoietic stem cells	blood
7	chr1:151584000-151585400	Active TSS	Thymus	Thymus
8	chr1:151584000-151585600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:151584000-151585600	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr1:151584000-151586000	Active TSS	Fetal Brain Male	brain
11	chr1:151584000-151586400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:151584000-151586600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:151584200-151585000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:151584200-151585200	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr1:151584200-151585200	Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:151584200-151585200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
17	chr1:151584200-151585200	Active TSS	Liver	Liver
18	chr1:151584200-151585200	Active TSS	Fetal Brain Female	brain
19	chr1:151584200-151585200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:151584200-151585200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:151584200-151585200	Active TSS	HepG2	liver
22	chr1:151584200-151585400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:151584200-151585400	Active TSS	Brain Anterior Caudate	brain
24	chr1:151584200-151585400	Active TSS	Duodenum Mucosa	Duodenum
25	chr1:151584200-151585400	Active TSS	Pancreas	Pancrea
26	chr1:151584200-151585600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:151584200-151585600	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:151584200-151585600	Active TSS	Brain Substantia Nigra	brain
29	chr1:151584200-151585600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:151584200-151585800	Active TSS	Ovary	ovary
31	chr1:151584200-151586200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:151584200-151586400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr1:151584200-151586400	Active TSS	Fetal Lung	lung
34	chr1:151584200-151586400	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:151584200-151586400	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:151584200-151586400	Active TSS	HSMMtube	muscle
37	chr1:151584200-151586600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:151584200-151586600	Active TSS	Colon Smooth Muscle	Colon
39	chr1:151584200-151586600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:151584200-151586600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr1:151584200-151586800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:151584200-151586800	Active TSS	Fetal Kidney	kidney
43	chr1:151584400-151584600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:151584400-151584600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:151584400-151584600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:151584400-151584600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:151584400-151584600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:151584400-151584600	Active TSS	Right Atrium	heart
49	chr1:151584400-151585200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:151584400-151585200	Active TSS	Primary B cells from peripheral blood	blood

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