Variant report

Variant	rs1894331
Chromosome Location	chr12:11930889-11930890
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11930876..11932594-chr12:11939826..11941565,2	MCF-7	breast:
2	chr12:11818730..11821682-chr12:11929813..11932777,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10772506	0.83[CHB][hapmap]
rs11054443	0.86[MEX][hapmap]
rs12425912	0.81[ASN][1000 genomes]
rs1894332	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2213231	0.96[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2723829	0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2856328	0.92[ASW][hapmap];0.86[GIH][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4763723	0.81[CHD][hapmap]
rs4763725	0.83[CHB][hapmap]
rs7311993	0.83[CHB][hapmap]
rs974728	0.85[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469113	chr12:11913360-11931259	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv557574	chr12:11913360-11931259	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1894331	MFAP5	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
3	chr12:11915400-11938000	Weak transcription	NHEK	skin
4	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:11918000-11936000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:11919400-11935000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:11919600-11932000	Weak transcription	HSMM	muscle
8	chr12:11919600-11936200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:11919600-11936800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:11919800-11931400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:11919800-11932400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:11920000-11931800	Weak transcription	HSMMtube	muscle
13	chr12:11920000-11937800	Weak transcription	NHLF	lung
14	chr12:11921200-11931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:11921800-11946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:11922000-11948200	Weak transcription	Colonic Mucosa	Colon
17	chr12:11923600-11934600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:11923600-11952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:11924200-11931000	Weak transcription	Right Atrium	heart
20	chr12:11925600-11932000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:11925600-11932000	Weak transcription	NH-A	brain
22	chr12:11925800-11938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:11925800-11938000	Weak transcription	HMEC	breast
24	chr12:11926600-11936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:11927000-11931000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:11927000-11936000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:11927400-11931000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:11927400-11934400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:11927400-11937400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:11927400-11941400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:11927600-11931800	Weak transcription	Small Intestine	intestine
32	chr12:11927600-11931800	Genic enhancers	Dnd41	blood
33	chr12:11927800-11931600	Weak transcription	Stomach Mucosa	stomach
34	chr12:11927800-11946200	Weak transcription	Gastric	stomach
35	chr12:11928000-11931800	Genic enhancers	GM12878-XiMat	blood
36	chr12:11928000-11933400	Weak transcription	Placenta	Placenta
37	chr12:11928000-11946400	Weak transcription	Fetal Intestine Large	intestine
38	chr12:11928200-11931200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:11928200-11931400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:11928200-11931400	Weak transcription	Brain Angular Gyrus	brain
41	chr12:11928200-11931800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:11928200-11932000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:11928200-11932400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:11928200-11936800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:11928200-11938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:11928600-11931800	Genic enhancers	Primary hematopoietic stem cells	blood
47	chr12:11928800-11931000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:11929000-11931800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:11929000-11938200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:11929600-11931400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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