Variant report

Variant	rs1130598
Chromosome Location	chr12:51636904-51636905
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51636660..51641391-chr12:51662083..51664284,5	MCF-7	breast:
2	chr12:51476181..51479081-chr12:51635788..51638583,2	K562	blood:
3	chr12:51509871..51511838-chr12:51635094..51637697,2	K562	blood:
4	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
5	chr12:51636888..51638953-chr12:51693663..51695699,2	K562	blood:
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	chr12:51601544..51604306-chr12:51636375..51638373,2	K562	blood:
12	chr12:51635894..51637427-chr12:51773896..51776536,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10783422	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783423	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783425	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10876154	0.86[EUR][1000 genomes]
rs10876155	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3888223	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6421171	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580809	0.86[EUR][1000 genomes]
rs6580816	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6580817	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7305016	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307217	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7309376	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7314235	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7398443	0.85[EUR][1000 genomes]
rs7959901	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	chr12:51634000-51637000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr12:51634000-51638400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:51634000-51638400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:51634000-51641200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:51634200-51637000	Strong transcription	Brain Germinal Matrix	brain
8	chr12:51634200-51637000	Strong transcription	Fetal Kidney	kidney
9	chr12:51634200-51637000	Strong transcription	HepG2	liver
10	chr12:51634200-51637200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:51634200-51637200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:51634200-51637200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:51634200-51637200	Strong transcription	Ovary	ovary
14	chr12:51634200-51638400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr12:51634200-51638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51634200-51638400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:51634200-51638400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:51634200-51638800	Strong transcription	Fetal Muscle Leg	muscle
19	chr12:51634200-51639200	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:51634200-51639200	Strong transcription	Fetal Lung	lung
21	chr12:51634200-51639400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:51634200-51639400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:51634200-51639600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:51634200-51639600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:51634200-51639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:51634200-51639800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:51634200-51640000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:51634200-51640000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:51634400-51637200	Genic enhancers	Primary T cells from cord blood	blood
30	chr12:51634400-51637200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:51634400-51637200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:51634400-51637200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:51634400-51637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:51634400-51638000	Strong transcription	HSMMtube	muscle
35	chr12:51634400-51638400	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr12:51634400-51639400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:51634600-51637000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:51634600-51637000	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr12:51634600-51637000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:51634600-51637200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:51634600-51637600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:51634600-51637800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:51634600-51639200	Strong transcription	K562	blood
44	chr12:51634600-51639400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:51634600-51639400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:51634600-51640200	Weak transcription	Fetal Heart	heart
47	chr12:51634600-51640400	Genic enhancers	Primary B cells from cord blood	blood
48	chr12:51634600-51640400	Strong transcription	Fetal Intestine Large	intestine
49	chr12:51634800-51637000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:51634800-51637000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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