Variant report

Variant	rs11204836
Chromosome Location	chr1:151483679-151483680
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	RCOR1	chr1:151483498-151483924	Hela-S3	cervix:	n/a	n/a
2	TAF1	chr1:151483303-151483742	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr1:151483311-151484415	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:151483412-151483791	SK-N-SH	brain:	n/a	n/a
5	BHLHE40	chr1:151483660-151483989	K562	blood:	n/a	chr1:151483734-151483750
6	USF1	chr1:151483406-151483966	H1-hESC	embryonic stem cell:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
7	YY1	chr1:151483396-151483841	GM12878	blood:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
8	MYC	chr1:151483617-151483712	MCF-7	breast:	n/a	chr1:151483681-151483694
9	CEBPD	chr1:151483459-151483920	HepG2	liver:	n/a	n/a
10	CHD2	chr1:151483634-151484370	Hela-S3	cervix:	n/a	chr1:151484134-151484144 chr1:151483652-151483662 chr1:151483637-151483647
11	ELF1	chr1:151483448-151484575	GM12878	blood:	n/a	n/a
12	YY1	chr1:151483415-151483937	GM12892	blood:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
13	TCF12	chr1:151483306-151484627	ECC-1	luminal epithelium:	n/a	chr1:151484448-151484455 chr1:151484214-151484224 chr1:151484590-151484597
14	PAX5	chr1:151483494-151483842	GM12892	blood:	n/a	chr1:151483651-151483670
15	HMGN3	chr1:151483667-151484048	K562	blood:	n/a	n/a
16	MAX	chr1:151483286-151487566	MCF-7	breast:	n/a	chr1:151483681-151483694
17	MXI1	chr1:151483427-151483779	H1-hESC	embryonic stem cell:	n/a	chr1:151483684-151483693
18	MAX	chr1:151483347-151484634	ECC-1	luminal epithelium:	n/a	chr1:151483681-151483694
19	ZBTB7A	chr1:151483552-151483879	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:151483380-151483711	H1-hESC	embryonic stem cell:	n/a	n/a
21	ELF1	chr1:151483583-151483878	K562	blood:	n/a	n/a
22	YY1	chr1:151483434-151483953	SK-N-SH_RA	brain:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
23	CCNT2	chr1:151483610-151484047	K562	blood:	n/a	chr1:151483746-151483755
24	NR2F2	chr1:151483571-151484716	MCF-7	breast:	n/a	n/a
25	MAZ	chr1:151483492-151484039	K562	blood:	n/a	chr1:151483681-151483694
26	POLR2A	chr1:151483336-151484142	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr1:151483297-151483749	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:151483469-151483758	A549	lung:	n/a	n/a
29	TAF1	chr1:151483390-151483761	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr1:151483120-151483907	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr1:151483104-151487318	MCF-7	breast:	n/a	chr1:151484448-151484455 chr1:151484214-151484224 chr1:151484590-151484597
32	E2F4	chr1:151483640-151483972	MCF10A-Er-Src	breast:	n/a	chr1:151483746-151483755
33	POLR2A	chr1:151483292-151484481	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr1:151483493-151483822	K562	blood:	n/a	n/a
35	YY1	chr1:151483253-151483948	H1-hESC	embryonic stem cell:	n/a	chr1:151483628-151483636 chr1:151483627-151483639 chr1:151483746-151483755 chr1:151483617-151483639
36	E2F6	chr1:151483447-151484017	K562	blood:	n/a	chr1:151483746-151483755
37	SIN3AK20	chr1:151483371-151484036	PANC-1	pancreas:	n/a	n/a
38	NR2F2	chr1:151483232-151487362	MCF-7	breast:	n/a	n/a
39	USF1	chr1:151483428-151483960	A549	lung:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
40	CREB1	chr1:151483290-151484014	A549	lung:	n/a	n/a
41	MAX	chr1:151483400-151484498	HepG2	liver:	n/a	chr1:151483681-151483694
42	REST	chr1:151483253-151483794	A549	lung:	n/a	n/a
43	USF1	chr1:151483335-151484123	SK-N-SH	brain:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
44	HEY1	chr1:151483472-151483791	HepG2	liver:	n/a	n/a
45	USF1	chr1:151483377-151483994	ECC-1	luminal epithelium:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
46	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
47	GTF2F1	chr1:151483482-151483682	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr1:151483540-151484485	NB4	blood:	n/a	chr1:151483681-151483694
49	USF1	chr1:151483530-151483822	GM12878	blood:	n/a	chr1:151483734-151483750 chr1:151483682-151483693
50	POLR2A	chr1:151483186-151484626	H1-neurons	neurons:	n/a	n/a

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
ENSG00000143367	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10749664	0.88[AFR][1000 genomes]
rs2211436	0.83[AFR][1000 genomes]
rs7551059	0.82[AFR][1000 genomes]
rs9661205	0.95[AFR][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	chr1:151482400-151485000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:151482400-151486200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:151482600-151484000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151482600-151484200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:151482600-151484400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:151482600-151484400	Active TSS	Fetal Brain Female	brain
8	chr1:151482600-151485000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:151482800-151484200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:151482800-151484200	Active TSS	Colonic Mucosa	Colon
11	chr1:151482800-151484600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:151482800-151484800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:151482800-151485000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:151482800-151485000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:151482800-151486000	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:151483000-151483800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:151483000-151484000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:151483000-151484000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:151483000-151484000	Active TSS	Stomach Smooth Muscle	stomach
20	chr1:151483000-151484000	Active TSS	Hela-S3	cervix
21	chr1:151483000-151484200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:151483000-151484200	Active TSS	Brain Anterior Caudate	brain
23	chr1:151483000-151484400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:151483000-151484400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:151483000-151484400	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:151483000-151484400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:151483000-151484400	Active TSS	Brain Angular Gyrus	brain
28	chr1:151483000-151484400	Active TSS	Brain Hippocampus Middle	brain
29	chr1:151483000-151484400	Active TSS	Brain Substantia Nigra	brain
30	chr1:151483000-151484400	Active TSS	NHLF	lung
31	chr1:151483000-151484600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:151483000-151484800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:151483000-151485000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:151483200-151483800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:151483200-151483800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
36	chr1:151483200-151484000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:151483200-151484000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:151483200-151484000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:151483200-151484200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:151483200-151484200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:151483200-151484200	Active TSS	Aorta	Aorta
42	chr1:151483200-151484200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:151483200-151484200	Active TSS	Fetal Kidney	kidney
44	chr1:151483200-151484200	Active TSS	Ovary	ovary
45	chr1:151483200-151484200	Active TSS	Right Ventricle	heart
46	chr1:151483200-151484200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr1:151483200-151484200	Active TSS	Thymus	Thymus
48	chr1:151483200-151484200	Active TSS	HSMMtube	muscle
49	chr1:151483200-151484200	Bivalent/Poised TSS	NHDF-Ad	bronchial
50	chr1:151483200-151484400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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