Variant report

Variant	rs13384023
Chromosome Location	chr2:47153596-47153597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47151428..47156852-chr2:47167376..47169782,7	MCF-7	breast:
2	chr2:47149635..47151373-chr2:47152965..47154617,2	K562	blood:
3	chr2:47151389..47153725-chr2:47165504..47168993,3	K562	blood:
4	chr2:47153593..47155659-chr2:47167396..47169944,3	MCF-7	breast:
5	chr2:47152234..47154718-chr2:47163994..47166479,3	MCF-7	breast:
6	chr2:47152236..47154946-chr2:47158648..47161233,3	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56176930	0.86[AFR][1000 genomes]
rs7604228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13384023	MCFD2	Cis_1M	lymphoblastoid	RTeQTL
rs13384023	MCFD2	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47153800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:47144200-47154000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:47144200-47155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:47144200-47157200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
6	chr2:47144400-47154400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:47144600-47164600	Weak transcription	Spleen	Spleen
8	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
9	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:47149600-47153600	Enhancers	Dnd41	blood
11	chr2:47150600-47156600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:47150800-47157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
16	chr2:47151600-47153800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:47151800-47153800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:47152000-47153800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:47152800-47154000	ZNF genes & repeats	Hela-S3	cervix
20	chr2:47153000-47153600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:47153000-47153600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:47153000-47153600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:47153000-47153600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:47153000-47153800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:47153000-47153800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:47153000-47153800	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr2:47153000-47154400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr2:47153200-47153600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:47153200-47153600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:47153200-47153600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:47153200-47153600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:47153200-47153600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:47153200-47153600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr2:47153200-47153600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:47153200-47153600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr2:47153200-47153600	ZNF genes & repeats	NH-A	brain
37	chr2:47153200-47153800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:47153200-47153800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:47153200-47153800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:47153200-47153800	ZNF genes & repeats	A549	lung
41	chr2:47153200-47153800	ZNF genes & repeats	HepG2	liver
42	chr2:47153200-47154400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:47153200-47154400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:47153200-47154400	ZNF genes & repeats	Osteobl	bone
45	chr2:47153400-47153600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr2:47153400-47153600	Strong transcription	Primary B cells from cord blood	blood
47	chr2:47153400-47153600	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr2:47153400-47153600	Active TSS	Fetal Heart	heart
49	chr2:47153400-47153800	Strong transcription	Fetal Thymus	thymus
50	chr2:47153400-47164400	Weak transcription	Thymus	Thymus

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