Variant report

Variant	rs1905849
Chromosome Location	chr12:104454527-104454528
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	USF1	chr12:104454511-104454978	A549	lung:	n/a	chr12:104454743-104454754
2	POLR2A	chr12:104454527-104455096	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104451742..104455414-chr12:104456321..104460021,5	MCF-7	breast:
2	chr12:104452639..104455206-chr12:104456175..104458752,4	K562	blood:
3	chr12:104451673..104455658-chr12:104456016..104458451,4	MCF-7	breast:

Variant related genes	Relation type
HCFC2	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17035144	0.92[ASN][1000 genomes]
rs1843371	0.93[AFR][1000 genomes]
rs7961041	0.91[AFR][1000 genomes]
rs9739313	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104444400-104457400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:104449600-104457000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:104450000-104456800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:104450200-104457400	Weak transcription	Pancreas	Pancrea
5	chr12:104450400-104456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:104450400-104457200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:104450400-104457400	Weak transcription	HSMMtube	muscle
8	chr12:104450800-104457400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:104453200-104457200	Weak transcription	Placenta	Placenta
10	chr12:104453400-104456800	Weak transcription	HMEC	breast
11	chr12:104453800-104454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:104454000-104455000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:104454000-104456600	Weak transcription	Esophagus	oesophagus
14	chr12:104454200-104455000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:104454200-104456800	Weak transcription	GM12878-XiMat	blood
16	chr12:104454200-104457000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:104454200-104457200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:104454200-104457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:104454400-104455000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:104454400-104455000	Enhancers	NHEK	skin

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