Variant report

Variant	rs45586133
Chromosome Location	chr1:46873039-46873040
allele	A/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	BRCA1	chr1:46872928-46873142	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46872939..46873670-chr1:47013367..47013915,2	K562	blood:
2	chr1:46871688..46875401-chr1:47182655..47185240,3	K562	blood:

Variant related genes	Relation type
FAAH	TF binding region
ENSG00000159658	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34267509	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46861000-46874400	Weak transcription	Primary T cells from cord blood	blood
2	chr1:46861200-46879000	Weak transcription	Aorta	Aorta
3	chr1:46861200-46879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:46861600-46880400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:46865400-46876000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:46867800-46877000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:46868000-46876200	Weak transcription	Small Intestine	intestine
8	chr1:46868000-46884200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:46868200-46873200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:46868200-46873600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:46868200-46875000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:46868200-46883800	Weak transcription	HepG2	liver
13	chr1:46869000-46882000	Strong transcription	Fetal Intestine Small	intestine
14	chr1:46870200-46874000	Enhancers	K562	blood
15	chr1:46870400-46873200	Genic enhancers	Brain Cingulate Gyrus	brain
16	chr1:46871000-46873600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:46871400-46873400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:46871600-46873200	Enhancers	Brain Angular Gyrus	brain
19	chr1:46871600-46873400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:46871600-46873400	Enhancers	Fetal Brain Male	brain
21	chr1:46871600-46873800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:46871800-46873200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:46871800-46873200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:46871800-46873400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:46871800-46873600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:46871800-46873600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:46871800-46874400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:46871800-46875200	Enhancers	Placenta	Placenta
29	chr1:46872000-46873200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:46872000-46873200	Enhancers	Fetal Stomach	stomach
31	chr1:46872000-46873400	Enhancers	HSMMtube	muscle
32	chr1:46872200-46873200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:46872200-46873200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:46872200-46873200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:46872200-46873400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:46872200-46873400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:46872200-46873600	Weak transcription	Thymus	Thymus
38	chr1:46872200-46873800	Weak transcription	Stomach Mucosa	stomach
39	chr1:46872200-46874000	Weak transcription	Esophagus	oesophagus
40	chr1:46872200-46874200	Weak transcription	Lung	lung
41	chr1:46872200-46875000	Enhancers	HSMM	muscle
42	chr1:46872200-46876400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:46872200-46880200	Strong transcription	Pancreas	Pancrea
44	chr1:46872200-46884800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:46872400-46876400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:46872600-46873200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr1:46872600-46873200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:46872600-46873400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:46872600-46873400	Strong transcription	Colonic Mucosa	Colon
50	chr1:46872600-46873600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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