Variant report

Variant	rs558128562
Chromosome Location	chr1:166135155-166135156
allele	C/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	REST	chr1:166134049-166135661	H1-neurons	neurons:	n/a	chr1:166135140-166135148
2	E2F6	chr1:166134565-166135212	H1-hESC	embryonic stem cell:	n/a	chr1:166135095-166135107 chr1:166134610-166134619 chr1:166134960-166134972 chr1:166135196-166135211
3	SIN3A	chr1:166134059-166135545	H1-hESC	embryonic stem cell:	n/a	chr1:166134458-166134472
4	POLR2A	chr1:166134906-166136215	H1-neurons	neurons:	n/a	n/a
5	ELF1	chr1:166135047-166135539	GM12878	blood:	n/a	n/a
6	CTBP2	chr1:166134242-166136250	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:166134166-166135597	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
8	E2F6	chr1:166134420-166135547	H1-hESC	embryonic stem cell:	n/a	chr1:166135095-166135107 chr1:166134610-166134619 chr1:166134960-166134972 chr1:166135196-166135211
9	MAX	chr1:166134244-166135513	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
10	SUZ12	chr1:166133824-166136040	NT2-D1	testis:	n/a	n/a
11	ZNF143	chr1:166135058-166135258	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF263	chr1:166134445-166135505	HEK293-T-REx	kidney:	n/a	chr1:166135074-166135083 chr1:166135075-166135096

Variant related genes	Relation type
ENSG00000230898	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166132400-166135200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:166134000-166135200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr1:166134000-166135400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr1:166134000-166135400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr1:166134000-166135600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:166134000-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
13	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
14	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
16	chr1:166134200-166135200	Bivalent Enhancer	Fetal Brain Male	brain
17	chr1:166134200-166135400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr1:166134200-166135400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr1:166134200-166135600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:166134400-166135200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:166134400-166135400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr1:166134400-166135400	Enhancers	Fetal Heart	heart
33	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
34	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr1:166134400-166135400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
36	chr1:166134400-166135400	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:166134400-166135400	Bivalent/Poised TSS	NHEK	skin
38	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:166134400-166135600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:166134400-166135600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:166134400-166135600	Flanking Active TSS	Liver	Liver
43	chr1:166134400-166135600	Bivalent Enhancer	Placenta	Placenta
44	chr1:166134400-166135600	Flanking Active TSS	Gastric	stomach
45	chr1:166134400-166135600	Flanking Active TSS	Ovary	ovary
46	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr1:166134400-166136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:166134400-166136800	Active TSS	Aorta	Aorta

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