Variant report

Variant	rs4653440
Chromosome Location	chr1:226257722-226257723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
2	chr1:226186633..226189098-chr1:226257320..226260557,3	K562	blood:
3	chr1:226183330..226185192-chr1:226257452..226258976,2	K562	blood:
4	chr1:226257154..226258738-chr1:226266195..226268284,2	MCF-7	breast:
5	chr1:226248537..226252087-chr1:226252328..226257854,13	MCF-7	breast:
6	chr1:226256658..226258730-chr1:226270014..226271766,2	MCF-7	breast:
7	chr1:226257129..226259171-chr1:226296635..226298571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143751	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12122761	1.00[MKK][hapmap]
rs17515010	0.85[GIH][hapmap]

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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226253000-226258000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:226253000-226270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226253200-226257800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:226253200-226257800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:226253200-226258000	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr1:226253200-226258800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:226253200-226260200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:226253200-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:226253200-226270600	Weak transcription	Aorta	Aorta
10	chr1:226253400-226259200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:226253400-226263000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:226253400-226263200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:226253400-226263400	Strong transcription	Placenta	Placenta
14	chr1:226253600-226260200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:226253600-226261800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:226253600-226263400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:226253600-226270400	Weak transcription	Small Intestine	intestine
18	chr1:226253800-226260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:226254000-226258800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:226254000-226258800	Strong transcription	Spleen	Spleen
21	chr1:226254000-226267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:226254200-226258000	Strong transcription	NHDF-Ad	bronchial
23	chr1:226254200-226260600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226254200-226261200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:226254400-226259000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:226254400-226263000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:226254600-226257800	Genic enhancers	Primary T cells from cord blood	blood
28	chr1:226254600-226258600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:226254600-226258800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:226254600-226258800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:226254600-226259000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:226254600-226259000	Strong transcription	HepG2	liver
33	chr1:226254600-226259600	Weak transcription	Fetal Brain Male	brain
34	chr1:226254600-226259800	Weak transcription	Colonic Mucosa	Colon
35	chr1:226254600-226259800	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:226254600-226260400	Strong transcription	Hela-S3	cervix
37	chr1:226254600-226260600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:226254600-226261200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:226254600-226261200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:226254600-226261200	Strong transcription	NH-A	brain
41	chr1:226254600-226261400	Strong transcription	Fetal Intestine Large	intestine
42	chr1:226254600-226261800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:226254600-226261800	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:226254600-226261800	Strong transcription	HSMM	muscle
45	chr1:226254600-226262000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:226254600-226262600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:226254600-226262600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:226254600-226262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:226254600-226262800	Strong transcription	Osteobl	bone
50	chr1:226254600-226263000	Strong transcription	HUVEC	blood vessel

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