Variant report

Variant	rs34618787
Chromosome Location	chr1:151483485-151483486
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	TAF1	chr1:151483303-151483742	H1-neurons	neurons:	n/a	n/a
2	TAF1	chr1:151483311-151484415	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr1:151483412-151483791	SK-N-SH	brain:	n/a	n/a
4	USF1	chr1:151483406-151483966	H1-hESC	embryonic stem cell:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
5	YY1	chr1:151483396-151483841	GM12878	blood:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
6	CEBPD	chr1:151483459-151483920	HepG2	liver:	n/a	n/a
7	ELF1	chr1:151483448-151484575	GM12878	blood:	n/a	n/a
8	YY1	chr1:151483415-151483937	GM12892	blood:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
9	TCF12	chr1:151483306-151484627	ECC-1	luminal epithelium:	n/a	chr1:151484448-151484455 chr1:151484214-151484224 chr1:151484590-151484597
10	MAX	chr1:151483286-151487566	MCF-7	breast:	n/a	chr1:151483681-151483694
11	MXI1	chr1:151483427-151483779	H1-hESC	embryonic stem cell:	n/a	chr1:151483684-151483693
12	MAX	chr1:151483347-151484634	ECC-1	luminal epithelium:	n/a	chr1:151483681-151483694
13	POLR2A	chr1:151483380-151483711	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr1:151483434-151483953	SK-N-SH_RA	brain:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
15	POLR2A	chr1:151483336-151484142	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:151483297-151483749	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:151483469-151483758	A549	lung:	n/a	n/a
18	TAF1	chr1:151483390-151483761	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr1:151483120-151483907	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr1:151483104-151487318	MCF-7	breast:	n/a	chr1:151484448-151484455 chr1:151484214-151484224 chr1:151484590-151484597
21	POLR2A	chr1:151483292-151484481	ECC-1	luminal epithelium:	n/a	n/a
22	YY1	chr1:151483253-151483948	H1-hESC	embryonic stem cell:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
23	E2F6	chr1:151483447-151484017	K562	blood:	n/a	chr1:151483746-151483755
24	SIN3AK20	chr1:151483371-151484036	PANC-1	pancreas:	n/a	n/a
25	NR2F2	chr1:151483232-151487362	MCF-7	breast:	n/a	n/a
26	USF1	chr1:151483428-151483960	A549	lung:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
27	CREB1	chr1:151483290-151484014	A549	lung:	n/a	n/a
28	MAX	chr1:151483400-151484498	HepG2	liver:	n/a	chr1:151483681-151483694
29	REST	chr1:151483253-151483794	A549	lung:	n/a	n/a
30	USF1	chr1:151483335-151484123	SK-N-SH	brain:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
31	HEY1	chr1:151483472-151483791	HepG2	liver:	n/a	n/a
32	USF1	chr1:151483377-151483994	ECC-1	luminal epithelium:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
33	GATA3	chr1:151483363-151487210	MCF-7	breast:	n/a	chr1:151483856-151483867 chr1:151486002-151486018 chr1:151485903-151485913 chr1:151485904-151485911 chr1:151484125-151484138 chr1:151486126-151486136 chr1:151484978-151484988 chr1:151485897-151485918 chr1:151485904-151485911 chr1:151485904-151485911 chr1:151485385-151485394
34	GTF2F1	chr1:151483482-151483682	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:151483186-151484626	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr1:151483474-151483737	GM12878	blood:	n/a	n/a
37	MAX	chr1:151483418-151484141	NB4	blood:	n/a	chr1:151483681-151483694
38	USF1	chr1:151483460-151483909	A549	lung:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
39	HDAC2	chr1:151483306-151484680	MCF-7	breast:	n/a	n/a
40	MAX	chr1:151483376-151484668	MCF-7	breast:	n/a	chr1:151483681-151483694
41	SP1	chr1:151483417-151483974	A549	lung:	n/a	chr1:151483652-151483664 chr1:151483745-151483754 chr1:151483744-151483756 chr1:151483745-151483755 chr1:151483744-151483756 chr1:151483653-151483662 chr1:151483652-151483663 chr1:151483653-151483662 chr1:151483746-151483755 chr1:151483694-151483705 chr1:151483654-151483663 chr1:151483745-151483759 chr1:151483745-151483755 chr1:151483880-151483892 chr1:151483652-151483664 chr1:151483745-151483754 chr1:151483653-151483667 chr1:151483780-151483794
42	POLR2A	chr1:151483315-151484155	H1-hESC	embryonic stem cell:	n/a	n/a
43	PML	chr1:151483419-151484768	MCF-7	breast:	n/a	n/a
44	CEBPB	chr1:151483303-151483610	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:151483346-151483769	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr1:151483430-151483760	HepG2	liver:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
47	USF1	chr1:151483390-151483924	SK-N-SH	brain:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
48	YY1	chr1:151483471-151483795	K562	blood:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
49	POLR2A	chr1:151483246-151484284	SK-N-MC	brain:	n/a	n/a
50	USF1	chr1:151483477-151483828	A549	lung:	n/a	chr1:151483734-151483750 chr1:151483682-151483693

No.	Distal block	Cell Line	Cell type
1	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
2	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
3	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
4	chr1:151482538..151486660-chr1:151496961..151502245,5	MCF-7	breast:
5	chr1:151483025..151485659-chr1:152019731..152022240,2	MCF-7	breast:
6	chr1:151410006..151411683-chr1:151482922..151485531,2	MCF-7	breast:
7	chr1:151483091..151485437-chr1:151490674..151493564,2	K562	blood:
8	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
9	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
10	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
11	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
12	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
13	chr1:151170179..151172284-chr1:151482238..151485195,2	MCF-7	breast:
14	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:

Variant related genes	Relation type
CGN	TF binding region
ENSG00000143442	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000207606	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11802310	1.00[AMR][1000 genomes]
rs60710240	1.00[AMR][1000 genomes]
rs6673041	1.00[AMR][1000 genomes]
rs6674647	1.00[AMR][1000 genomes]
rs72997927	1.00[AMR][1000 genomes]
rs72997933	1.00[AMR][1000 genomes]
rs72997937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997974	1.00[AMR][1000 genomes]
rs72997976	1.00[AMR][1000 genomes]
rs72997981	1.00[AMR][1000 genomes]
rs7533075	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151482000-151484200	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:151482400-151483600	Flanking Active TSS	Liver	Liver
3	chr1:151482400-151485000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:151482400-151486200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:151482600-151484000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:151482600-151484200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:151482600-151484400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:151482600-151484400	Active TSS	Fetal Brain Female	brain
9	chr1:151482600-151485000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:151482800-151483600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:151482800-151483600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:151482800-151483600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:151482800-151483600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:151482800-151483600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr1:151482800-151483600	Flanking Active TSS	Dnd41	blood
16	chr1:151482800-151484200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:151482800-151484200	Active TSS	Colonic Mucosa	Colon
18	chr1:151482800-151484600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151482800-151484800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:151482800-151485000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:151482800-151485000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:151482800-151486000	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:151483000-151483600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
24	chr1:151483000-151483600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:151483000-151483600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr1:151483000-151483600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:151483000-151483600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:151483000-151483600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:151483000-151483600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr1:151483000-151483600	Active TSS	Fetal Brain Male	brain
31	chr1:151483000-151483600	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr1:151483000-151483600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr1:151483000-151483600	Flanking Active TSS	GM12878-XiMat	blood
34	chr1:151483000-151483800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:151483000-151484000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:151483000-151484000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:151483000-151484000	Active TSS	Stomach Smooth Muscle	stomach
38	chr1:151483000-151484000	Active TSS	Hela-S3	cervix
39	chr1:151483000-151484200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:151483000-151484200	Active TSS	Brain Anterior Caudate	brain
41	chr1:151483000-151484400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:151483000-151484400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:151483000-151484400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:151483000-151484400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:151483000-151484400	Active TSS	Brain Angular Gyrus	brain
46	chr1:151483000-151484400	Active TSS	Brain Hippocampus Middle	brain
47	chr1:151483000-151484400	Active TSS	Brain Substantia Nigra	brain
48	chr1:151483000-151484400	Active TSS	NHLF	lung
49	chr1:151483000-151484600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:151483000-151484800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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