Variant report

Variant	rs1049467
Chromosome Location	chr12:51636259-51636260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51476181..51479081-chr12:51635788..51638583,2	K562	blood:
2	chr12:51509871..51511838-chr12:51635094..51637697,2	K562	blood:
3	chr12:51634848..51636523-chr12:51716870..51718982,2	K562	blood:
4	chr12:51441619..51444815-chr12:51631402..51636504,5	K562	blood:
5	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
6	chr12:51636186..51637776-chr12:51661813..51663779,2	MCF-7	breast:
7	chr12:51475911..51479702-chr12:51634794..51641655,10	K562	blood:
8	chr12:51635065..51637457-chr12:51735891..51738185,2	K562	blood:
9	chr12:51608943..51615058-chr12:51635250..51642835,14	K562	blood:
10	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
11	chr12:51635894..51637427-chr12:51773896..51776536,2	K562	blood:
12	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:
13	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000110934	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10735833	0.86[ASN][1000 genomes]
rs7308873	0.86[AMR][1000 genomes]
rs7311832	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7312011	0.81[AMR][1000 genomes];0.81[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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51633200-51640400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:51633800-51639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51634000-51636400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:51634000-51636600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:51634000-51637000	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr12:51634000-51638400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:51634000-51638400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:51634000-51641200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:51634200-51636400	Genic enhancers	Adipose Nuclei	Adipose
10	chr12:51634200-51636400	Genic enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:51634200-51636400	Genic enhancers	Pancreas	Pancrea
12	chr12:51634200-51637000	Strong transcription	Brain Germinal Matrix	brain
13	chr12:51634200-51637000	Strong transcription	Fetal Kidney	kidney
14	chr12:51634200-51637000	Strong transcription	HepG2	liver
15	chr12:51634200-51637200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:51634200-51637200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:51634200-51637200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:51634200-51637200	Strong transcription	Ovary	ovary
19	chr12:51634200-51638400	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr12:51634200-51638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:51634200-51638400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:51634200-51638400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:51634200-51638800	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:51634200-51639200	Genic enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:51634200-51639200	Strong transcription	Fetal Lung	lung
26	chr12:51634200-51639400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:51634200-51639400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:51634200-51639600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr12:51634200-51639600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:51634200-51639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:51634200-51639800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:51634200-51640000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:51634200-51640000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:51634400-51637200	Genic enhancers	Primary T cells from cord blood	blood
35	chr12:51634400-51637200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:51634400-51637200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:51634400-51637200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:51634400-51637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:51634400-51638000	Strong transcription	HSMMtube	muscle
40	chr12:51634400-51638400	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr12:51634400-51639400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:51634600-51637000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:51634600-51637000	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr12:51634600-51637000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:51634600-51637200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:51634600-51637600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:51634600-51637800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:51634600-51639200	Strong transcription	K562	blood
49	chr12:51634600-51639400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:51634600-51639400	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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