Variant report

Variant	rs73390481
Chromosome Location	chr12:104457168-104457169
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	MXI1	chr12:104456954-104459433	IMR90	lung:	n/a	chr12:104458234-104458243
2	MXI1	chr12:104457085-104460152	SK-N-SH	brain:	n/a	chr12:104458234-104458243
3	REST	chr12:104457115-104459356	H1-neurons	neurons:	n/a	chr12:104459012-104459025

No.	Distal block	Cell Line	Cell type
1	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
2	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:
3	chr12:104440302..104444353-chr12:104456677..104458918,3	K562	blood:
4	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
5	chr12:104441740..104444353-chr12:104456837..104458918,2	K562	blood:

Variant related genes	Relation type
HCFC2	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17192938	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17193036	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17193064	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17193219	0.83[ASN][1000 genomes]
rs17805891	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17806516	0.83[ASN][1000 genomes]
rs4257050	0.83[ASN][1000 genomes]
rs59714382	0.83[ASN][1000 genomes]
rs61440530	0.83[ASN][1000 genomes]
rs61610230	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104444400-104457400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:104450200-104457400	Weak transcription	Pancreas	Pancrea
3	chr12:104450400-104457200	Weak transcription	Adipose Nuclei	Adipose
4	chr12:104450400-104457400	Weak transcription	HSMMtube	muscle
5	chr12:104450800-104457400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:104453200-104457200	Weak transcription	Placenta	Placenta
7	chr12:104454200-104457200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:104454200-104457200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:104455000-104457200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:104456600-104457200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:104456600-104457400	Enhancers	NHDF-Ad	bronchial
12	chr12:104456800-104457200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:104456800-104457200	Enhancers	GM12878-XiMat	blood
14	chr12:104456800-104457200	Enhancers	HMEC	breast
15	chr12:104456800-104457400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:104456800-104457400	Weak transcription	Esophagus	oesophagus
17	chr12:104456800-104457400	Enhancers	Fetal Brain Male	brain
18	chr12:104457000-104457200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:104457000-104457200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:104457000-104457200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:104457000-104457200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:104457000-104457200	Enhancers	Fetal Brain Female	brain
23	chr12:104457000-104457200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:104457000-104457200	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:104457000-104457200	Flanking Active TSS	NHLF	lung
26	chr12:104457000-104457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:104457000-104457400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:104457000-104457400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:104457000-104457400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:104457000-104457400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:104457000-104457400	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:104457000-104457400	Enhancers	Fetal Muscle Leg	muscle
33	chr12:104457000-104457400	Enhancers	Rectal Smooth Muscle	rectum
34	chr12:104457000-104457400	Enhancers	Right Ventricle	heart
35	chr12:104457000-104457400	Enhancers	Dnd41	blood
36	chr12:104457000-104457400	Flanking Active TSS	Hela-S3	cervix
37	chr12:104457000-104457400	Enhancers	NH-A	brain
38	chr12:104457000-104457400	Enhancers	NHEK	skin
39	chr12:104457000-104457800	Flanking Active TSS	Osteobl	bone
40	chr12:104457000-104458000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:104457000-104459600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:104457000-104459600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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