Variant report

Variant	rs559133510
Chromosome Location	chr1:47901957-47901958
allele	-/C
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	RAD21	chr1:47901943-47902736	HCT-116	colon:	n/a	chr1:47902581-47902591 chr1:47902581-47902593
2	RCOR1	chr1:47901790-47903838	K562	blood:	n/a	n/a
3	ZNF384	chr1:47901817-47902461	GM12878	blood:	n/a	n/a
4	RAD21	chr1:47901592-47902663	SK-N-SH	brain:	n/a	chr1:47902581-47902591 chr1:47902581-47902593
5	MAZ	chr1:47901897-47903976	GM12878	blood:	n/a	chr1:47903585-47903595 chr1:47903694-47903704 chr1:47902435-47902445
6	RCOR1	chr1:47901885-47902477	K562	blood:	n/a	n/a
7	CTCF	chr1:47901795-47902870	HCT-116	colon:	n/a	chr1:47902578-47902591
8	SMC3	chr1:47901894-47903047	SK-N-SH	brain:	n/a	chr1:47902581-47902591
9	CTCF	chr1:47901955-47902010	Medullo	brain:	n/a	n/a
10	CTCF	chr1:47901931-47902058	HUVEC	blood vessel:	n/a	n/a
11	RCOR1	chr1:47901804-47902660	HepG2	liver:	n/a	n/a
12	RAD21	chr1:47901932-47902520	A549	lung:	n/a	n/a
13	CTCF	chr1:47901820-47901970	HFF	foreskin:	n/a	n/a
14	MXI1	chr1:47901931-47902549	GM12878	blood:	n/a	n/a
15	CTCF	chr1:47901915-47902032	K562	blood:	n/a	n/a
16	CBX3	chr1:47901694-47902813	K562	blood:	n/a	n/a
17	CTCF	chr1:47901825-47903997	SK-N-SH	brain:	n/a	chr1:47903695-47903708 chr1:47903638-47903654 chr1:47903640-47903649 chr1:47903639-47903660 chr1:47903640-47903653 chr1:47903637-47903655 chr1:47903640-47903653 chr1:47903642-47903652 chr1:47902578-47902591
18	RCOR1	chr1:47901797-47902575	Hela-S3	cervix:	n/a	n/a
19	ZNF143	chr1:47901877-47902684	K562	blood:	n/a	n/a
20	CTCF	chr1:47901840-47901990	HMF	breast:	n/a	n/a
21	KAP1	chr1:47901858-47903671	HEK293	kidney:	n/a	n/a
22	CTCF	chr1:47901860-47902010	AoAF	blood vessel:	n/a	n/a
23	SMC3	chr1:47901892-47902655	GM12878	blood:	n/a	chr1:47902581-47902591
24	TEAD4	chr1:47901925-47902988	K562	blood:	n/a	n/a
25	CTCF	chr1:47901898-47902641	HCT-116	colon:	n/a	chr1:47902578-47902591
26	HCFC1	chr1:47901944-47902848	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47901774..47903783-chr1:47905502..47907193,2	MCF-7	breast:
2	chr1:47901790..47903824-chr1:48190200..48191775,2	K562	blood:
3	chr1:47901910..47902768-chr1:48089857..48090558,2	K562	blood:
4	chr1:47901811..47902631-chr1:47910399..47911268,2	K562	blood:
5	chr1:47901842..47902786-chr1:48175848..48176467,3	K562	blood:

Variant related genes	Relation type
FOXD2-AS1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534956	chr1:47882277-47905486	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv534957	chr1:47882277-47907965	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3432093	chr1:47901465-47906063	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv3406880	chr1:47901890-47905238	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47898800-47902000	Weak transcription	HSMM	muscle
2	chr1:47898800-47902000	Weak transcription	HSMMtube	muscle
3	chr1:47899000-47904400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:47899200-47902200	Weak transcription	Gastric	stomach
5	chr1:47900000-47902000	Enhancers	Aorta	Aorta
6	chr1:47900400-47902000	Active TSS	Colonic Mucosa	Colon
7	chr1:47900400-47902200	Weak transcription	Lung	lung
8	chr1:47900400-47902200	Weak transcription	Pancreas	Pancrea
9	chr1:47900400-47902200	Weak transcription	Right Atrium	heart
10	chr1:47900600-47902000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:47900600-47902000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:47900800-47902000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:47900800-47902000	Bivalent Enhancer	NHEK	skin
14	chr1:47900800-47902000	Weak transcription	NHLF	lung
15	chr1:47901200-47902000	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr1:47901400-47902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:47901400-47902200	Enhancers	Spleen	Spleen
18	chr1:47901400-47902200	Flanking Active TSS	Hela-S3	cervix
19	chr1:47901400-47902400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr1:47901400-47902800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:47901400-47908000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr1:47901600-47902000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr1:47901600-47902000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:47901600-47902000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:47901600-47902000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:47901600-47902000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr1:47901600-47902200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:47901600-47902200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:47901600-47902200	Flanking Active TSS	HepG2	liver
30	chr1:47901600-47902600	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:47901600-47902800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:47901600-47902800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr1:47901800-47902000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr1:47901800-47902000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr1:47901800-47902000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:47901800-47902000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:47901800-47902000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:47901800-47902000	Enhancers	Adipose Nuclei	Adipose
39	chr1:47901800-47902000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:47901800-47902000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr1:47901800-47902000	Bivalent Enhancer	Fetal Thymus	thymus
42	chr1:47901800-47902000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr1:47901800-47902000	Bivalent Enhancer	Thymus	Thymus
44	chr1:47901800-47902000	Flanking Active TSS	A549	lung
45	chr1:47901800-47902000	Enhancers	HUVEC	blood vessel
46	chr1:47901800-47902200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:47901800-47902200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr1:47901800-47902200	Bivalent Enhancer	Primary T cells from cord blood	blood
49	chr1:47901800-47902200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr1:47901800-47902200	Enhancers	Primary T helper cells fromperipheralblood	blood

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