Variant report

Variant	rs550326020
Chromosome Location	chr12:50793617-50793618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr12:50793568-50794516	Hela-S3	cervix:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50677350..50679861-chr12:50792501..50795030,2	K562	blood:
2	chr12:50495184..50497904-chr12:50792002..50794811,2	K562	blood:
3	chr12:50560048..50562244-chr12:50793488..50796318,2	MCF-7	breast:
4	chr12:50793053..50795901-chr12:51566225..51568182,2	K562	blood:
5	chr12:50504921..50507290-chr12:50793420..50795913,2	K562	blood:
6	chr12:50614841..50617436-chr12:50793138..50795396,3	K562	blood:
7	chr12:50793597..50795392-chr12:51156771..51159161,2	MCF-7	breast:
8	chr12:50611453..50613308-chr12:50792675..50795177,2	K562	blood:
9	chr12:50792642..50794335-chr12:50796337..50798839,2	MCF-7	breast:
10	chr12:50639732..50644182-chr12:50792343..50795361,4	K562	blood:
11	chr12:50614841..50617436-chr12:50793138..50796219,5	K562	blood:
12	chr12:50787607..50792856-chr12:50793045..50797935,10	K562	blood:
13	chr12:50758172..50761780-chr12:50791230..50796188,4	K562	blood:
14	chr12:50744030..50745748-chr12:50793472..50795953,2	K562	blood:

No data

Variant related genes	Relation type
FAM186A	TF binding region
LARP4	TF binding region
ENSG00000139624	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000185958	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000257531	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000167588	Chromatin interaction
ENSG00000203433	Chromatin interaction
ENSG00000244266	Chromatin interaction
ENSG00000135457	Chromatin interaction

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	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
7	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
10	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50781800-50794000	Weak transcription	Fetal Kidney	kidney
2	chr12:50782000-50794000	Weak transcription	Fetal Heart	heart
3	chr12:50782800-50794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50785000-50794000	Weak transcription	HUVEC	blood vessel
5	chr12:50790200-50794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:50790400-50793800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:50790600-50793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:50790600-50794000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:50790600-50794200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:50790800-50793800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:50790800-50793800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:50790800-50793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:50790800-50793800	Weak transcription	NHEK	skin
14	chr12:50790800-50794000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:50790800-50794000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:50790800-50794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:50791000-50793800	Weak transcription	Osteobl	bone
18	chr12:50791000-50794000	Weak transcription	A549	lung
19	chr12:50791000-50794000	Weak transcription	NHDF-Ad	bronchial
20	chr12:50791200-50793800	Weak transcription	Hela-S3	cervix
21	chr12:50791200-50794000	Weak transcription	HMEC	breast
22	chr12:50791400-50793800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:50791400-50793800	Weak transcription	HepG2	liver
24	chr12:50791400-50794000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:50791400-50794200	Weak transcription	Placenta	Placenta
26	chr12:50793600-50794400	Flanking Active TSS	Dnd41	blood
27	chr12:50793600-50796800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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