Variant report

Variant	rs559050612
Chromosome Location	chr1:220700905-220700906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:220700525-220701119	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:220700590-220701041	GM15510	blood:	n/a	n/a
3	TCF7L2	chr1:220700868-220701690	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:220700517-220701043	Gliobla	brain:	n/a	n/a
5	POLR2A	chr1:220700514-220701063	GM12892	blood:	n/a	n/a
6	KAP1	chr1:220700647-220701710	HEK293	kidney:	n/a	n/a
7	REST	chr1:220700828-220703377	H1-neurons	neurons:	n/a	chr1:220702035-220702048 chr1:220701723-220701730 chr1:220702290-220702303 chr1:220701544-220701557 chr1:220701528-220701541
8	POLR2A	chr1:220700589-220700975	GM12892	blood:	n/a	n/a
9	CEBPB	chr1:220700901-220701448	Hela-S3	cervix:	n/a	chr1:220700960-220700971
10	POLR2A	chr1:220700590-220701199	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr1:220700707-220701033	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr1:220700591-220701008	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr1:220700500-220703699	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr1:220700549-220700986	HCT-116	colon:	n/a	n/a
15	POLR2A	chr1:220700556-220701056	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr1:220700647-220702677	Hela-S3	cervix:	n/a	n/a
17	MAX	chr1:220700397-220701961	HCT-116	colon:	n/a	n/a
18	SIN3A	chr1:220700587-220702907	H1-hESC	embryonic stem cell:	n/a	chr1:220701533-220701544 chr1:220702053-220702066 chr1:220700821-220700832
19	ZNF263	chr1:220700316-220703260	HEK293-T-REx	kidney:	n/a	chr1:220702654-220702663 chr1:220701061-220701070
20	POLR2A	chr1:220700510-220701039	HCT-116	colon:	n/a	n/a
21	CHD2	chr1:220700709-220702012	Hela-S3	cervix:	n/a	chr1:220701059-220701069

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:220700883-220700933	HRCEpiC	kidney:	n/a
2	chr1:220700883-220700933	NT2-D1	testis:	n/a
3	chr1:220700883-220700933	GM12878	blood:	n/a
4	chr1:220700883-220700933	SK-N-SH	brain:	n/a
5	chr1:220700883-220700933	HepG2	liver:	n/a
6	chr1:220700883-220700933	Caco-2	colon:	n/a
7	chr1:220700883-220700933	K562	blood:	n/a
8	chr1:220700883-220700933	HCF	heart:	n/a
9	chr1:220700883-220700933	BJ	skin:	n/a
10	chr1:220700883-220700933	AG09319	gingival:	n/a
11	chr1:220700883-220700933	HNPCEpiC	eye:	n/a
12	chr1:220700883-220700933	HEEpiC	esophagus:	n/a
13	chr1:220700883-220700933	CMK	blood:	n/a
14	chr1:220700883-220700933	PrEC	prostate:	n/a
15	chr1:220700883-220700933	RPTEC	kidney:	n/a
16	chr1:220700883-220700933	HL-60	blood:	n/a
17	chr1:220700883-220700933	HCPEpiC	choroid plexus:	n/a
18	chr1:220700883-220700933	HUVEC	blood vessel:	n/a
19	chr1:220700883-220700933	AG04449	skin:	fetal
20	chr1:220700883-220700933	SAEC	small airway:	n/a
21	chr1:220700883-220700933	GM06990	blood:	n/a
22	chr1:220700883-220700933	LNCaP	prostate:	n/a
23	chr1:220700883-220700933	PANC-1	pancreas:	n/a
24	chr1:220700883-220700933	H1-hESC	embryonic stem cell:	embryo
25	chr1:220700883-220700933	IMR90	lung:	fetal
26	chr1:220700883-220700933	HAEpiC	amniotic membrane:	n/a
27	chr1:220700883-220700933	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:220700883-220700933	AG04450	lung:	fetal
29	chr1:220700883-220700933	HEK293	kidney:	embryo
30	chr1:220700883-220700933	BE2_C	brain:	n/a
31	chr1:220700883-220700933	MCF10A-Er-Src	breast:	n/a
32	chr1:220700883-220700933	GM19239	blood:	n/a
33	chr1:220700883-220700933	HCT-116	colon:	n/a
34	chr1:220700883-220700933	NHDF-neo	bronchial:	n/a
35	chr1:220700883-220700933	AG10803	skin:	n/a
36	chr1:220700883-220700933	ovcar-3	ovarian:	n/a
37	chr1:220700883-220700933	SK-N-MC	brain:	n/a
38	chr1:220700883-220700933	HRE	kidney:	n/a
39	chr1:220700883-220700933	Hela-S3	cervix:	n/a
40	chr1:220700883-220700933	GM12892	blood:	n/a
41	chr1:220700883-220700933	GM12891	blood:	n/a
42	chr1:220700883-220700933	HMEC	breast:	n/a
43	chr1:220700883-220700933	NB4	blood:	n/a
44	chr1:220700883-220700933	NHBE	bronchial:	n/a
45	chr1:220700883-220700933	A549	lung:	n/a
46	chr1:220700883-220700933	Hepatocyte	liver:	n/a
47	chr1:220700883-220700933	T-47D	breast:	n/a
48	chr1:220700883-220700933	PFSK-1	brain:	n/a
49	chr1:220700883-220700933	HIPEpiC	eye:	n/a
50	chr1:220700883-220700933	HCM	heart:	n/a

No data

Variant related genes	Relation type
MARK1	TF binding region
MARK1	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3350899	chr1:220700629-220702677	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220700000-220701000	Flanking Active TSS	Fetal Brain Female	brain
2	chr1:220700200-220702000	Active TSS	Brain Hippocampus Middle	brain
3	chr1:220700200-220703600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:220700200-220704600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:220700400-220701000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:220700400-220701000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:220700400-220701000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:220700400-220701000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr1:220700400-220701000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:220700400-220701000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:220700400-220701000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
12	chr1:220700400-220701200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:220700400-220701200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:220700400-220701200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr1:220700400-220701400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:220700400-220701600	Active TSS	Right Atrium	heart
17	chr1:220700400-220701800	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:220700400-220702200	Active TSS	Right Ventricle	heart
19	chr1:220700400-220702800	Active TSS	NHEK	skin
20	chr1:220700400-220703400	Active TSS	Brain Cingulate Gyrus	brain
21	chr1:220700400-220703400	Active TSS	Brain Substantia Nigra	brain
22	chr1:220700400-220703400	Active TSS	Fetal Kidney	kidney
23	chr1:220700400-220703600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:220700400-220703600	Active TSS	Brain Angular Gyrus	brain
25	chr1:220700400-220703600	Active TSS	Brain Anterior Caudate	brain
26	chr1:220700400-220703800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:220700400-220704000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:220700600-220701000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:220700600-220701000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:220700600-220701000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:220700600-220701000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr1:220700600-220701000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr1:220700600-220701000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:220700600-220701000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:220700600-220701000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:220700600-220701000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:220700600-220701000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:220700600-220701000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr1:220700600-220701000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr1:220700600-220701000	Flanking Active TSS	Pancreas	Pancrea
41	chr1:220700600-220701000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:220700600-220701000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr1:220700600-220701000	Bivalent Enhancer	GM12878-XiMat	blood
44	chr1:220700600-220701000	Flanking Active TSS	NH-A	brain
45	chr1:220700600-220701000	Bivalent/Poised TSS	NHLF	lung
46	chr1:220700600-220701000	Bivalent/Poised TSS	Osteobl	bone
47	chr1:220700600-220701200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
49	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr1:220700600-220701200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links