Variant report

Variant	rs61927693
Chromosome Location	chr12:47533485-47533486
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	SPI1	chr12:47532749-47533493	HL-60	blood:	n/a	n/a
2	MAX	chr12:47532874-47533711	NB4	blood:	n/a	chr12:47533202-47533212

Variant related genes	Relation type
ENSG00000258352	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11829304	1.00[EUR][1000 genomes]
rs1608825	0.87[AMR][1000 genomes]
rs17097638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1949863	0.87[AMR][1000 genomes]
rs4548703	0.87[AMR][1000 genomes]
rs59727019	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61677310	1.00[EUR][1000 genomes]
rs61927694	1.00[EUR][1000 genomes]
rs61927713	0.80[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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3374724	chr12:47531385-47535683	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
2	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
6	chr12:47517200-47534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:47517400-47538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:47525200-47535200	Weak transcription	Esophagus	oesophagus
9	chr12:47527000-47547800	Weak transcription	Ovary	ovary
10	chr12:47529600-47535000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:47529600-47542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:47529800-47535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:47531800-47536000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:47531800-47538000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:47532400-47533800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:47532400-47534000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:47532400-47534200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:47532800-47533800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:47533000-47533600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:47533000-47533600	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr12:47533000-47533600	ZNF genes & repeats	HMEC	breast
22	chr12:47533000-47533600	ZNF genes & repeats	NHEK	skin
23	chr12:47533000-47533800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:47533000-47533800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:47533000-47533800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:47533000-47534000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:47533000-47536200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:47533200-47533600	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr12:47533200-47533600	ZNF genes & repeats	Spleen	Spleen
30	chr12:47533200-47533800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr12:47533200-47536200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:47533400-47533600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr12:47533400-47533600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:47533400-47533600	Enhancers	Gastric	stomach
35	chr12:47533400-47533600	Enhancers	Pancreas	Pancrea
36	chr12:47533400-47535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:47533400-47535200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:47533400-47541800	Weak transcription	Osteobl	bone

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