Variant report

Variant	rs563860427
Chromosome Location	chr1:166135429-166135430
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	REST	chr1:166134049-166135661	H1-neurons	neurons:	n/a	chr1:166135140-166135148
2	CTCF	chr1:166135289-166135467	GM12878	blood:	n/a	n/a
3	CHD2	chr1:166135268-166135502	GM12878	blood:	n/a	n/a
4	SIN3A	chr1:166134059-166135545	H1-hESC	embryonic stem cell:	n/a	chr1:166134458-166134472
5	POLR2A	chr1:166134906-166136215	H1-neurons	neurons:	n/a	n/a
6	ELF1	chr1:166135047-166135539	GM12878	blood:	n/a	n/a
7	BACH1	chr1:166135292-166135544	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr1:166134242-166136250	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:166134166-166135597	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
10	CTCF	chr1:166135293-166135524	GM19239	blood:	n/a	n/a
11	POLR2A	chr1:166135356-166135447	MCF-7	breast:	n/a	n/a
12	E2F6	chr1:166134420-166135547	H1-hESC	embryonic stem cell:	n/a	chr1:166135095-166135107 chr1:166134610-166134619 chr1:166134960-166134972 chr1:166135196-166135211
13	MAX	chr1:166134244-166135513	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
14	ZNF143	chr1:166135379-166137147	GM12878	blood:	n/a	chr1:166135776-166135786 chr1:166135769-166135779 chr1:166136260-166136278 chr1:166136119-166136137
15	SUZ12	chr1:166133824-166136040	NT2-D1	testis:	n/a	n/a
16	CTCF	chr1:166135332-166135565	GM19238	blood:	n/a	n/a
17	TCF7L2	chr1:166135156-166135570	PANC-1	pancreas:	n/a	n/a
18	ZNF263	chr1:166134445-166135505	HEK293-T-REx	kidney:	n/a	chr1:166135074-166135083 chr1:166135075-166135096
19	CTCF	chr1:166135423-166135460	GM12891	blood:	n/a	n/a
20	CTCF	chr1:166135386-166135513	GM12892	blood:	n/a	n/a
21	CTCF	chr1:166135420-166135570	GM12871	blood:	n/a	n/a
22	CCNT2	chr1:166135247-166135610	K562	blood:	n/a	n/a

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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:166134000-166135600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:166134000-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
9	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
10	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
12	chr1:166134200-166135600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:166134400-166135600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:166134400-166135600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:166134400-166135600	Flanking Active TSS	Liver	Liver
19	chr1:166134400-166135600	Bivalent Enhancer	Placenta	Placenta
20	chr1:166134400-166135600	Flanking Active TSS	Gastric	stomach
21	chr1:166134400-166135600	Flanking Active TSS	Ovary	ovary
22	chr1:166134400-166135600	Flanking Bivalent TSS/Enh	HMEC	breast
23	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr1:166134400-166136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:166134400-166136800	Active TSS	Aorta	Aorta
27	chr1:166134400-166136800	Active TSS	Colon Smooth Muscle	Colon
28	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
30	chr1:166134600-166135600	Flanking Active TSS	Esophagus	oesophagus
31	chr1:166134600-166135800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr1:166134600-166135800	Flanking Active TSS	Right Ventricle	heart
33	chr1:166134800-166135600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr1:166134800-166135600	Flanking Active TSS	Pancreas	Pancrea
35	chr1:166135000-166135600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
36	chr1:166135000-166135600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr1:166135000-166135600	Transcr. at gene 5' and 3'	Right Atrium	heart
38	chr1:166135000-166135600	Bivalent Enhancer	Spleen	Spleen
39	chr1:166135000-166136800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:166135200-166135600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:166135200-166135600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:166135200-166135600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr1:166135200-166135600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:166135200-166135600	Flanking Active TSS	Lung	lung
45	chr1:166135200-166135600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr1:166135200-166135600	Bivalent/Poised TSS	HSMM	muscle
47	chr1:166135200-166136200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:166135200-166136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr1:166135200-166136600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:166135200-166136600	Bivalent/Poised TSS	HepG2	liver

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