Variant report

Variant	rs562741560
Chromosome Location	chr1:210639422-210639423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
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	USF1	chr1:210639162-210639463	HepG2	liver:	n/a	n/a
2	REST	chr1:210639125-210639564	H1-hESC	embryonic stem cell:	n/a	n/a
3	PBX3	chr1:210639197-210639475	GM12878	blood:	n/a	n/a
4	USF1	chr1:210639198-210639461	GM12878	blood:	n/a	n/a
5	RXRA	chr1:210639095-210639507	GM12878	blood:	n/a	n/a
6	POU2F2	chr1:210639103-210639554	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:210639076-210639685	GM12892	blood:	n/a	n/a
8	ZBTB33	chr1:210639116-210639523	GM12878	blood:	n/a	n/a
9	EP300	chr1:210639112-210639548	GM12878	blood:	n/a	n/a
10	PAX5	chr1:210639194-210639522	GM12878	blood:	n/a	n/a
11	REST	chr1:210639134-210639507	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr1:210639136-210639554	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:210639190-210639486	GM12878	blood:	n/a	n/a
14	BCL3	chr1:210639350-210639648	GM12878	blood:	n/a	n/a
15	SP1	chr1:210639116-210639473	GM12878	blood:	n/a	n/a
16	NFATC1	chr1:210639329-210639649	GM12878	blood:	n/a	n/a
17	IRF4	chr1:210639090-210639514	GM12878	blood:	n/a	n/a
18	TCF3	chr1:210639180-210639619	GM12878	blood:	n/a	n/a
19	PBX3	chr1:210639134-210639539	GM12878	blood:	n/a	n/a
20	SIX5	chr1:210639199-210639493	K562	blood:	n/a	n/a
21	POU2F2	chr1:210639195-210639451	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210638414..210639957-chr1:210641526..210644422,2	K562	blood:
2	chr1:210628178..210631075-chr1:210639085..210641802,2	K562	blood:
3	chr1:210544521..210546591-chr1:210638749..210641083,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270936	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4376	chr1:210627620-210672326	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2497060	chr1:210638608-210640022	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2255563	chr1:210639104-210639542	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3529230	chr1:210639118-210639527	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3529228	chr1:210639139-210639529	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3529227	chr1:210639152-210639474	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3321102	chr1:210639155-210639465	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3321103	chr1:210639155-210639465	Strong transcription Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3529231	chr1:210639255-210639466	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1269016	chr1:210639335-210639455	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:210611600-210639600	Weak transcription	Aorta	Aorta
3	chr1:210614600-210641200	Weak transcription	Gastric	stomach
4	chr1:210626200-210650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210628400-210640800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:210630000-210641200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:210630200-210641400	Weak transcription	Liver	Liver
8	chr1:210631000-210644200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:210631000-210653800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:210631200-210640200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:210635800-210639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:210636000-210641000	Weak transcription	Ovary	ovary
13	chr1:210636400-210646000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:210637200-210640800	Weak transcription	Right Ventricle	heart
15	chr1:210637400-210640600	Weak transcription	Spleen	Spleen
16	chr1:210637800-210639800	Strong transcription	HSMMtube	muscle
17	chr1:210637800-210640000	Strong transcription	Left Ventricle	heart
18	chr1:210638000-210641200	Strong transcription	HSMM	muscle
19	chr1:210638200-210642400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:210638400-210644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:210638800-210640400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:210639400-210668200	Weak transcription	Primary T cells from cord blood	blood

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