Variant report

Variant	rs182952390
Chromosome Location	chr5:41903392-41903393
allele	G/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	POLR2A	chr5:41903212-41907438	K562	blood:	n/a	n/a
2	POLR2A	chr5:41903074-41905268	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr5:41903320-41905340	K562	blood:	n/a	n/a
4	RCOR1	chr5:41903209-41904860	K562	blood:	n/a	n/a
5	HCFC1	chr5:41903266-41905374	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:41903357-41906392	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr5:41903380-41903530	AG04450	lung:	n/a	n/a
8	GABPA	chr5:41903348-41904956	MCF-7	breast:	n/a	chr5:41904593-41904602
9	MYC	chr5:41903324-41905196	K562	blood:	n/a	chr5:41904435-41904444 chr5:41904435-41904444 chr5:41904433-41904446 chr5:41904435-41904444
10	POLR2A	chr5:41903222-41903411	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:41903132-41905728	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:41903151-41905198	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:41903013..41905286-chr5:41924628..41927661,3	MCF-7	breast:
2	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
3	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
4	chr5:41901802..41904243-chr5:43119565..43121157,2	K562	blood:
5	chr19:35739945..35740464-chr5:41903086..41904056,2	Hela-S3	cervix:
6	chr5:40833991..40836420-chr5:41902681..41904929,3	K562	blood:

Variant related genes	Relation type
C5orf51	TF binding region
ENSG00000248668	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000151876	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	esv3508785	chr5:41900095-41904893	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv327668	chr5:41901383-41909830	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv3469161	chr5:41901765-41903841	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3508784	chr5:41901813-41903820	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
9	esv3469160	chr5:41901819-41903820	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	esv3469164	chr5:41901829-41903802	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
11	esv3508788	chr5:41901833-41903785	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	esv3469162	chr5:41901853-41903778	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	esv3508789	chr5:41901860-41903770	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	esv13889	chr5:41901871-41903659	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
15	esv3469159	chr5:41901905-41903722	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv3508787	chr5:41901915-41903724	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
17	esv3469165	chr5:41901920-41903719	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
18	esv3508790	chr5:41901920-41903719	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
19	nsv597881	chr5:41901966-41903583	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
21	nsv597883	chr5:41902330-41903583	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv597884	chr5:41902622-41903583	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41900000-41903800	Weak transcription	Gastric	stomach
2	chr5:41900400-41903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:41903000-41903400	Enhancers	HepG2	liver
4	chr5:41903000-41903600	Active TSS	Fetal Brain Male	brain
5	chr5:41903000-41904000	Flanking Active TSS	Dnd41	blood
6	chr5:41903000-41905200	Active TSS	Brain Hippocampus Middle	brain
7	chr5:41903200-41903400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:41903200-41903400	Active TSS	Brain Anterior Caudate	brain
9	chr5:41903200-41903400	Enhancers	Fetal Kidney	kidney
10	chr5:41903200-41903400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr5:41903200-41903400	Enhancers	K562	blood
12	chr5:41903200-41903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:41903200-41903600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:41903200-41903600	Enhancers	Fetal Stomach	stomach
15	chr5:41903200-41903600	Enhancers	Hela-S3	cervix
16	chr5:41903200-41905400	Active TSS	GM12878-XiMat	blood

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