Variant report

Variant	rs374175184
Chromosome Location	chr1:166136713-166136714
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	MAZ	chr1:166136121-166136774	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
2	REST	chr1:166136219-166136784	ECC-1	luminal epithelium:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
3	MAX	chr1:166136404-166136813	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr1:166136568-166137023	MCF10A-Er-Src	breast:	n/a	n/a
5	REST	chr1:166135989-166136788	HL-60	blood:	n/a	chr1:166136445-166136465 chr1:166136004-166136017 chr1:166136445-166136454
6	RAD21	chr1:166136431-166137188	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:166136381-166136722	MCF10A-Er-Src	breast:	n/a	n/a
8	REST	chr1:166136293-166136779	PANC-1	pancreas:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
9	MTA3	chr1:166136525-166136913	GM12878	blood:	n/a	n/a
10	REST	chr1:166136032-166136791	PFSK-1	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
11	REST	chr1:166136218-166136739	MCF-7	breast:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
12	BHLHE40	chr1:166136074-166136823	K562	blood:	n/a	chr1:166136078-166136094
13	REST	chr1:166136183-166136746	A549	lung:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
14	CHD2	chr1:166136325-166136794	HepG2	liver:	n/a	n/a
15	ELF1	chr1:166136280-166136847	K562	blood:	n/a	chr1:166136344-166136356
16	REST	chr1:166136319-166136806	GM12878	blood:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
17	USF2	chr1:166136184-166136754	GM12878	blood:	n/a	n/a
18	REST	chr1:166136216-166136804	ECC-1	luminal epithelium:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
19	E2F4	chr1:166136278-166136737	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF143	chr1:166135379-166137147	GM12878	blood:	n/a	chr1:166135776-166135786 chr1:166135769-166135779 chr1:166136260-166136278 chr1:166136119-166136137
21	SMC3	chr1:166136376-166136993	GM12878	blood:	n/a	chr1:166136412-166136426
22	MTA3	chr1:166136385-166137001	GM12878	blood:	n/a	n/a
23	SIN3A	chr1:166135836-166136752	H1-hESC	embryonic stem cell:	n/a	chr1:166136445-166136458
24	CTCF	chr1:166135846-166137192	GM12878	blood:	n/a	chr1:166136150-166136163 chr1:166136412-166136425
25	MAX	chr1:166136040-166137217	GM12878	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
26	STAT3	chr1:166136487-166136976	MCF10A-Er-Src	breast:	n/a	n/a
27	BHLHE40	chr1:166135820-166137405	GM12878	blood:	n/a	chr1:166136078-166136094
28	FOS	chr1:166136693-166137331	MCF10A-Er-Src	breast:	n/a	n/a
29	EBF1	chr1:166136669-166136964	GM12878	blood:	n/a	n/a
30	NFIC	chr1:166136373-166136736	GM12878	blood:	n/a	n/a
31	REST	chr1:166136213-166136749	MCF-7	breast:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
32	WRNIP1	chr1:166136558-166137613	GM12878	blood:	n/a	n/a
33	REST	chr1:166136203-166136813	K562	blood:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
34	MAZ	chr1:166135856-166137106	GM12878	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279

Variant related genes	Relation type
ENSG00000230898	TF binding region
FAM78B	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv3356306	chr1:166134753-166137301	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3380611	chr1:166135003-166137251	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3328889	chr1:166135153-166137701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
2	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:166134400-166136800	Active TSS	Aorta	Aorta
4	chr1:166134400-166136800	Active TSS	Colon Smooth Muscle	Colon
5	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
7	chr1:166135000-166136800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:166135200-166136800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:166135200-166136800	Bivalent/Poised TSS	Thymus	Thymus
10	chr1:166135400-166136800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:166135400-166136800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:166135400-166137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:166135400-166137000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:166135400-166137000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:166135400-166137000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
16	chr1:166135400-166137200	Active TSS	Rectal Smooth Muscle	rectum
17	chr1:166135600-166136800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:166135600-166136800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:166135600-166136800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:166135600-166136800	Active TSS	Esophagus	oesophagus
21	chr1:166135600-166136800	Active TSS	Lung	lung
22	chr1:166135600-166136800	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:166135600-166136800	Active TSS	HSMM	muscle
24	chr1:166135600-166137000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:166135600-166137000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:166135600-166137000	Active TSS	Right Atrium	heart
27	chr1:166135800-166136800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:166135800-166136800	Active TSS	Stomach Smooth Muscle	stomach
29	chr1:166135800-166137000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:166135800-166137000	Active TSS	Colonic Mucosa	Colon
31	chr1:166135800-166137000	Active TSS	Right Ventricle	heart
32	chr1:166136000-166136800	Active TSS	Fetal Intestine Large	intestine
33	chr1:166136000-166137000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:166136000-166137000	Active TSS	NHDF-Ad	bronchial
35	chr1:166136200-166136800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:166136400-166136800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr1:166136400-166136800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:166136400-166136800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
43	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr1:166136400-166136800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr1:166136400-166136800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr1:166136400-166136800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:166136400-166137000	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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