Variant report

Variant	rs835149
Chromosome Location	chr5:14881102-14881103
allele	C/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	EP300	chr5:14880871-14881145	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:14880103-14881139	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
3	CEBPB	chr5:14880083-14881155	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
4	POLR2A	chr5:14880759-14881130	U87	brain:	n/a	n/a
5	CEBPB	chr5:14880127-14881193	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
6	FOS	chr5:14880812-14881179	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr5:14879942-14881166	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
8	JUN	chr5:14880844-14881141	HepG2	liver:	n/a	n/a
9	RCOR1	chr5:14880821-14881102	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr5:14880885-14881102	HepG2	liver:	n/a	n/a
11	CEBPB	chr5:14879589-14881286	Hela-S3	cervix:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
12	FOS	chr5:14880826-14881146	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr5:14880056-14881209	MCF-7	breast:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
14	JUND	chr5:14880852-14881163	HepG2	liver:	n/a	chr5:14880990-14881001
15	POLR2A	chr5:14880784-14881130	U87	brain:	n/a	n/a
16	CEBPB	chr5:14880079-14881172	IMR90	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
17	FOS	chr5:14880814-14881128	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr5:14880839-14881133	HepG2	liver:	n/a	chr5:14880990-14881001
19	FOS	chr5:14880816-14881146	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:14880731-14881117	U87	brain:	n/a	n/a
21	RCOR1	chr5:14879885-14881236	IMR90	lung:	n/a	n/a
22	POLR2A	chr5:14881100-14881274	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
2	chr5:14879517..14881326-chr5:14882980..14885197,2	MCF-7	breast:
3	chr5:14765139..14767276-chr5:14879416..14882042,3	MCF-7	breast:

Variant related genes	Relation type
HNRNPKP5	TF binding region
ENSG00000272057	Chromatin interaction
ENSG00000249928	Chromatin interaction
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16903724	1.00[TSI][hapmap]

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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1833901	chr5:14871952-14884822	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs835149	MGLL	trans	lymphoblastoid	seeQTL
rs835149	CNN3	trans	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14873000-14882000	Weak transcription	Psoas Muscle	Psoas
2	chr5:14879400-14881200	Enhancers	Hela-S3	cervix
3	chr5:14879400-14881400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:14879400-14881400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:14879400-14881400	Enhancers	HepG2	liver
6	chr5:14879600-14881400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:14879600-14883400	Enhancers	HMEC	breast
8	chr5:14879800-14881200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:14879800-14881200	Enhancers	Osteobl	bone
10	chr5:14879800-14881400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:14880000-14881200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:14880000-14881400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:14880400-14881200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:14880400-14881200	Enhancers	Right Ventricle	heart
15	chr5:14880400-14881400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:14880400-14881400	Enhancers	NHDF-Ad	bronchial
17	chr5:14880600-14881200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:14880600-14881200	Enhancers	Adipose Nuclei	Adipose
19	chr5:14880600-14881200	Enhancers	NHLF	lung
20	chr5:14880600-14882400	Weak transcription	Fetal Heart	heart
21	chr5:14880800-14883800	Enhancers	Left Ventricle	heart
22	chr5:14881000-14881200	Enhancers	Right Atrium	heart
23	chr5:14881000-14881200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:14881000-14882000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:14881000-14882200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:14881000-14882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:14881000-14882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:14881000-14892600	Weak transcription	Fetal Intestine Small	intestine

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