Variant report

Variant	rs12727567
Chromosome Location	chr1:151300274-151300275
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:278)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151300231-151300409	HepG2	liver:	n/a	n/a
2	MAX	chr1:151299517-151300887	K562	blood:	n/a	chr1:151299695-151299705 chr1:151299720-151299729
3	MAFK	chr1:151300081-151300695	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:151299339-151300880	K562	blood:	n/a	n/a
5	POLR2A	chr1:151299403-151300501	GM18505	blood:	n/a	n/a
6	NFIC	chr1:151299855-151300469	GM12878	blood:	n/a	n/a
7	RCOR1	chr1:151299770-151300619	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr1:151300125-151300498	MCF10A-Er-Src	breast:	n/a	n/a
9	RFX5	chr1:151299806-151300446	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:151299420-151300538	GM12878	blood:	n/a	n/a
11	USF2	chr1:151299999-151300293	Hela-S3	cervix:	n/a	n/a
12	MAFK	chr1:151300054-151300524	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:151299592-151300553	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr1:151299445-151300893	ProgFib	skin:	n/a	n/a
15	BCLAF1	chr1:151299699-151300766	GM12878	blood:	n/a	chr1:151299901-151299914
16	MYC	chr1:151299413-151300447	NB4	blood:	n/a	chr1:151299695-151299705 chr1:151299507-151299517 chr1:151299720-151299729
17	RCOR1	chr1:151299987-151300640	HepG2	liver:	n/a	n/a
18	MAX	chr1:151299769-151300423	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr1:151299216-151300352	GM12878	blood:	n/a	chr1:151299895-151299908
20	NFIC	chr1:151299696-151300704	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:151299214-151300837	U87	brain:	n/a	n/a
22	POLR2A	chr1:151300184-151300413	GM12878	blood:	n/a	n/a
23	ELK1	chr1:151299928-151300274	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr1:151299658-151300349	HepG2	liver:	n/a	n/a
25	MYC	chr1:151299708-151300494	A549	lung:	n/a	chr1:151299720-151299729
26	SIN3AK20	chr1:151299566-151300415	PANC-1	pancreas:	n/a	n/a
27	EP300	chr1:151299893-151300558	K562	blood:	n/a	chr1:151299906-151299915
28	POLR2A	chr1:151300007-151300440	SK-N-SH	brain:	n/a	n/a
29	GATA1	chr1:151299823-151300552	PBDE	blood:	n/a	chr1:151300059-151300067
30	TBL1XR1	chr1:151299351-151300620	GM12878	blood:	n/a	n/a
31	IRF1	chr1:151299346-151300556	K562	blood:	n/a	chr1:151300181-151300195
32	STAT3	chr1:151300161-151300595	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:151299469-151301132	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr1:151299445-151300820	K562	blood:	n/a	n/a
35	POLR2A	chr1:151299406-151300766	GM12892	blood:	n/a	n/a
36	POLR2A	chr1:151299470-151300525	GM10847	blood:	n/a	n/a
37	POLR2A	chr1:151299454-151300590	HUVEC	blood vessel:	n/a	n/a
38	ATF3	chr1:151299919-151300573	A549	lung:	n/a	chr1:151300182-151300191
39	TBP	chr1:151299842-151300380	HepG2	liver:	n/a	n/a
40	FOS	chr1:151300042-151300378	MCF10A-Er-Src	breast:	n/a	n/a
41	MAZ	chr1:151299719-151300493	HepG2	liver:	n/a	chr1:151299720-151299729
42	RCOR1	chr1:151299522-151301030	K562	blood:	n/a	n/a
43	POLR2A	chr1:151299527-151300667	HEK293	kidney:	n/a	n/a
44	GTF2F1	chr1:151299798-151300527	Hela-S3	cervix:	n/a	n/a
45	PML	chr1:151299192-151300846	GM12878	blood:	n/a	n/a
46	ELF1	chr1:151299094-151301027	MCF-7	breast:	n/a	chr1:151299547-151299558
47	POLR2A	chr1:151300186-151300391	A549	lung:	n/a	n/a
48	POLR2A	chr1:151299432-151300828	K562	blood:	n/a	n/a
49	MAX	chr1:151299355-151300340	Hela-S3	cervix:	n/a	chr1:151299695-151299705 chr1:151299507-151299517 chr1:151299720-151299729
50	POLR2A	chr1:151299396-151300521	GM15510	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151299813..151300421-chr11:60673263..60674045,2	Hela-S3	cervix:
2	chr1:151299532..151300360-chr10:120840138..120840920,2	NB4	blood:
3	chr1:151252184..151258894-chr1:151295105..151301119,15	MCF-7	breast:
4	chr1:151299325..151301340-chr1:151315065..151318235,3	K562	blood:
5	chr1:151253853..151259248-chr1:151295350..151301325,11	K562	blood:
6	chr1:151261212..151263374-chr1:151298008..151300724,2	K562	blood:
7	chr1:151298795..151301346-chr1:151338740..151340960,2	MCF-7	breast:
8	chr1:151298650..151301104-chr1:151317671..151320176,4	MCF-7	breast:
9	chr1:151298559..151302678-chr1:151316998..151321426,11	MCF-7	breast:
10	chr1:151298918..151301246-chr1:151343671..151345334,3	MCF-7	breast:
11	chr1:151270481..151273348-chr1:151299079..151301611,3	MCF-7	breast:
12	chr1:151166438..151169666-chr1:151298490..151301352,3	MCF-7	breast:
13	chr1:151299777..151300544-chr7:143077972..143078880,2	Hela-S3	cervix:
14	chr1:151253682..151256795-chr1:151298712..151301104,5	MCF-7	breast:
15	chr1:151299959..151300682-chr17:66031717..66032242,2	HCT-116	colon:
16	chr1:151299305..151301447-chr1:151370337..151372394,3	MCF-7	breast:
17	chr1:151297425..151301136-chr1:151370895..151373723,5	MCF-7	breast:
18	chr1:151299641..151300617-chr14:51561744..51562502,2	NB4	blood:
19	chr1:151298409..151301460-chr1:151318358..151322178,4	K562	blood:
20	chr1:151299097..151300902-chr1:151735248..151736836,2	MCF-7	breast:
21	chr1:151297227..151300315-chr1:151316951..151319680,4	K562	blood:
22	chr1:151227140..151228672-chr1:151298695..151301256,3	MCF-7	breast:
23	chr1:151299980..151303180-chr1:151310152..151314785,6	MCF-7	breast:

No data

Variant related genes	Relation type
PI4KB	TF binding region
ENSG00000273481	TF binding region
ENSG00000163159	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000100505	Chromatin interaction
ENSG00000107581	Chromatin interaction
ENSG00000182481	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000159840	Chromatin interaction
ENSG00000110107	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1115	1.00[LWK][hapmap]
rs11581703	1.00[LWK][hapmap]
rs12042270	1.00[LWK][hapmap]
rs12138655	1.00[LWK][hapmap]
rs12142028	1.00[LWK][hapmap]
rs12744045	1.00[LWK][hapmap]
rs12745008	1.00[GIH][hapmap]
rs2233851	1.00[LWK][hapmap]
rs2769272	1.00[GIH][hapmap]
rs35463346	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	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
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr1:151298400-151301000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:151298600-151300400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:151298600-151300400	Active TSS	Fetal Muscle Trunk	muscle
4	chr1:151298600-151300600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:151298600-151300600	Active TSS	Right Atrium	heart
6	chr1:151298600-151300800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:151298600-151300800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:151298600-151300800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:151298600-151300800	Active TSS	NHDF-Ad	bronchial
10	chr1:151298600-151301000	Active TSS	Ovary	ovary
11	chr1:151298600-151301000	Active TSS	Right Ventricle	heart
12	chr1:151298800-151300600	Active TSS	Colonic Mucosa	Colon
13	chr1:151298800-151300600	Active TSS	Gastric	stomach
14	chr1:151298800-151300600	Active TSS	Left Ventricle	heart
15	chr1:151298800-151300800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:151298800-151300800	Active TSS	Esophagus	oesophagus
17	chr1:151298800-151301200	Active TSS	NHLF	lung
18	chr1:151299000-151300400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:151299000-151300600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:151299000-151300600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:151299000-151300600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:151299000-151300600	Active TSS	Lung	lung
23	chr1:151299000-151300600	Active TSS	GM12878-XiMat	blood
24	chr1:151299000-151300800	Active TSS	Placenta Amnion	Placenta Amnion
25	chr1:151299000-151301000	Active TSS	Aorta	Aorta
26	chr1:151299000-151301000	Active TSS	Psoas Muscle	Psoas
27	chr1:151299200-151300400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:151299200-151300400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:151299200-151300400	Active TSS	NH-A	brain
30	chr1:151299200-151300600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:151299200-151300600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:151299200-151300800	Active TSS	Colon Smooth Muscle	Colon
33	chr1:151299200-151300800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:151299200-151300800	Active TSS	Small Intestine	intestine
35	chr1:151299200-151300800	Active TSS	Stomach Mucosa	stomach
36	chr1:151299200-151300800	Bivalent/Poised TSS	HepG2	liver
37	chr1:151299200-151301000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:151299200-151301000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:151299200-151301200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:151299200-151301200	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:151299200-151301200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:151299200-151301200	Active TSS	HSMM	muscle
43	chr1:151299400-151300400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:151299400-151300400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:151299400-151300400	Active TSS	Primary T cells from cord blood	blood
46	chr1:151299400-151300400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:151299400-151300400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:151299400-151300400	Active TSS	Brain Germinal Matrix	brain
49	chr1:151299400-151300400	Active TSS	Fetal Brain Female	brain
50	chr1:151299400-151300400	Active TSS	Fetal Muscle Leg	muscle

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