Variant report

Variant	rs371441861
Chromosome Location	chr1:47901543-47901544
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	CTCF	chr1:47901460-47901610	HBMEC	blood vessel:	n/a	n/a
2	REST	chr1:47901500-47901748	ECC-1	luminal epithelium:	n/a	chr1:47901615-47901624
3	REST	chr1:47901468-47901732	Hela-S3	cervix:	n/a	chr1:47901615-47901624
4	CTCF	chr1:47901480-47901630	AG10803	skin:	n/a	n/a
5	ZNF384	chr1:47900987-47901615	GM12878	blood:	n/a	n/a
6	REST	chr1:47901493-47901668	K562	blood:	n/a	chr1:47901615-47901624
7	POLR2A	chr1:47901496-47901686	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr1:47901460-47901610	HMEC	breast:	n/a	n/a
9	CTCF	chr1:47901420-47901570	HMEC	breast:	n/a	n/a
10	CTCF	chr1:47901540-47901690	AG10803	skin:	n/a	n/a
11	REST	chr1:47901461-47901685	Hela-S3	cervix:	n/a	chr1:47901615-47901624
12	REST	chr1:47901497-47901676	SK-N-SH	brain:	n/a	chr1:47901615-47901624
13	CTCF	chr1:47901400-47901550	GM12872	blood:	n/a	n/a
14	REST	chr1:47901492-47901738	H1-hESC	embryonic stem cell:	n/a	chr1:47901615-47901624

Variant related genes	Relation type
FOXD2	TF binding region
FOXD2-AS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47894400-47901600	Weak transcription	HepG2	liver
2	chr1:47897000-47901600	Weak transcription	A549	lung
3	chr1:47898800-47901600	Weak transcription	K562	blood
4	chr1:47898800-47902000	Weak transcription	HSMM	muscle
5	chr1:47898800-47902000	Weak transcription	HSMMtube	muscle
6	chr1:47899000-47904400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:47899200-47901800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:47899200-47902200	Weak transcription	Gastric	stomach
9	chr1:47899400-47901600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:47899400-47901600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:47899800-47901800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:47900000-47902000	Enhancers	Aorta	Aorta
13	chr1:47900400-47901600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:47900400-47901600	Weak transcription	Liver	Liver
15	chr1:47900400-47901800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:47900400-47901800	Enhancers	HMEC	breast
17	chr1:47900400-47902000	Active TSS	Colonic Mucosa	Colon
18	chr1:47900400-47902200	Weak transcription	Lung	lung
19	chr1:47900400-47902200	Weak transcription	Pancreas	Pancrea
20	chr1:47900400-47902200	Weak transcription	Right Atrium	heart
21	chr1:47900600-47901800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:47900600-47902000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:47900600-47902000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:47900800-47901800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:47900800-47902000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:47900800-47902000	Bivalent Enhancer	NHEK	skin
27	chr1:47900800-47902000	Weak transcription	NHLF	lung
28	chr1:47901000-47901600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:47901200-47901600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:47901200-47902000	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr1:47901400-47901600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr1:47901400-47901600	Enhancers	GM12878-XiMat	blood
33	chr1:47901400-47901800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:47901400-47901800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:47901400-47901800	Bivalent Enhancer	Colon Smooth Muscle	Colon
36	chr1:47901400-47901800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr1:47901400-47902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:47901400-47902200	Enhancers	Spleen	Spleen
39	chr1:47901400-47902200	Flanking Active TSS	Hela-S3	cervix
40	chr1:47901400-47902400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr1:47901400-47902800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:47901400-47908000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum

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