Variant report

Variant	rs73187417
Chromosome Location	chr12:104984662-104984663
allele	G/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	SPI1	chr12:104984598-104984879	HL-60	blood:	n/a	n/a
2	SPI1	chr12:104984643-104984814	K562	blood:	n/a	n/a

Variant related genes	Relation type
MIR3922	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12579373	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12581735	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12581769	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17036293	1.00[AFR][1000 genomes]
rs58731514	1.00[EUR][1000 genomes]
rs7964130	1.00[EUR][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104971000-104990600	Weak transcription	Lung	lung
2	chr12:104972200-104989800	Weak transcription	Fetal Brain Male	brain
3	chr12:104973800-104990800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:104974400-104984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:104974600-104987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:104974600-104988800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:104974600-104990600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:104975000-104988800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:104975600-104988400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104975600-104992000	Weak transcription	Gastric	stomach
11	chr12:104976000-104987800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:104976800-104996800	Weak transcription	Primary T cells from cord blood	blood
13	chr12:104977200-104987200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:104978000-104989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:104978400-104989600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:104979000-104986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:104980200-104989200	Weak transcription	Fetal Thymus	thymus
18	chr12:104980200-104989800	Weak transcription	Aorta	Aorta
19	chr12:104980200-104997600	Weak transcription	Esophagus	oesophagus
20	chr12:104980600-104985800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:104980600-104990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:104981000-104985400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:104981400-104988600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:104982000-104985400	Enhancers	K562	blood
25	chr12:104982400-104989800	Weak transcription	Fetal Heart	heart
26	chr12:104982600-104985000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:104982600-104986800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:104982600-104994800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:104982800-104985000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:104982800-104985000	Weak transcription	NHDF-Ad	bronchial
31	chr12:104982800-104988000	Strong transcription	Dnd41	blood
32	chr12:104982800-104989200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:104982800-104989200	Weak transcription	Fetal Stomach	stomach
34	chr12:104982800-104989200	Weak transcription	HSMM	muscle
35	chr12:104982800-104995400	Weak transcription	Thymus	Thymus
36	chr12:104983000-104987600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:104983000-104988000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:104983000-104988800	Weak transcription	GM12878-XiMat	blood
39	chr12:104983000-104989200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:104983000-104989200	Weak transcription	NH-A	brain
41	chr12:104983000-104989200	Weak transcription	NHLF	lung
42	chr12:104983000-104989200	Weak transcription	Osteobl	bone
43	chr12:104983000-104989400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:104983200-104985200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:104983200-104986800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:104983200-104987000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:104983200-104987000	Enhancers	NHEK	skin
48	chr12:104983200-104987200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:104983200-104989400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:104983200-104996800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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