Variant report

Variant	rs4964817
Chromosome Location	chr12:104947610-104947611
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11112103	1.00[EUR][1000 genomes]
rs12580732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12581196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12581471	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12581482	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12581832	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12582770	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12582786	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35340768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58027342	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58754129	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60941296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300706	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7980620	0.92[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	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104930200-104957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:104939200-104951200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104939800-104948000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:104939800-104948000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:104940600-104958000	Weak transcription	K562	blood
6	chr12:104941200-104949200	Weak transcription	Fetal Brain Female	brain
7	chr12:104941200-104951400	Weak transcription	Thymus	Thymus
8	chr12:104941400-104948000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104941400-104948800	Weak transcription	Fetal Thymus	thymus
10	chr12:104941400-104949400	Weak transcription	Lung	lung
11	chr12:104941400-104959400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:104942000-104947800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:104942000-104957600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:104942800-104948800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:104944000-104948000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:104944000-104948000	Strong transcription	Dnd41	blood
17	chr12:104944200-104948600	Weak transcription	HMEC	breast
18	chr12:104944200-104948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:104944400-104957600	Weak transcription	A549	lung
20	chr12:104944600-104948800	Weak transcription	Small Intestine	intestine
21	chr12:104944600-104949200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:104944800-104951600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:104945800-104949200	Weak transcription	Brain Germinal Matrix	brain
24	chr12:104945800-104949400	Weak transcription	Fetal Brain Male	brain
25	chr12:104946000-104949400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:104946200-104949000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:104946400-104947800	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr12:104946400-104949000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:104946600-104947800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:104946600-104948000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr12:104946600-104948000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr12:104946600-104948200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr12:104946600-104949400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:104946600-104950000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:104946600-104950200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:104946800-104949400	Weak transcription	Right Ventricle	heart
37	chr12:104947000-104948000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr12:104947000-104948200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:104947000-104948400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:104947200-104947800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr12:104947200-104948200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr12:104947200-104950800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:104947400-104947800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:104947400-104947800	ZNF genes & repeats	Aorta	Aorta
45	chr12:104947400-104947800	ZNF genes & repeats	Spleen	Spleen
46	chr12:104947400-104958000	Weak transcription	Primary T cells from cord blood	blood
47	chr12:104947600-104948000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:104947600-104949800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:104947600-104952800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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