Variant report

Variant	rs56672607
Chromosome Location	chr2:54796794-54796795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54796760..54799671-chr2:54800450..54802770,2	K562	blood:
2	chr2:54795805..54798083-chr2:54801150..54802782,2	MCF-7	breast:
3	chr2:54749225..54752072-chr2:54796311..54798001,2	K562	blood:
4	chr2:54796611..54799496-chr2:54810522..54814074,3	MCF-7	breast:
5	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2228366	1.00[AFR][1000 genomes]
rs55874850	1.00[AFR][1000 genomes]
rs56116715	0.90[AFR][1000 genomes]
rs56222220	1.00[AFR][1000 genomes]
rs56275380	0.90[AFR][1000 genomes]
rs57638221	1.00[AFR][1000 genomes]
rs58085727	1.00[AFR][1000 genomes]
rs59719174	0.95[AFR][1000 genomes]
rs60427184	1.00[AFR][1000 genomes]
rs73934322	0.95[AFR][1000 genomes]
rs73934324	0.95[AFR][1000 genomes]
rs73934328	1.00[AFR][1000 genomes]
rs73934448	1.00[AFR][1000 genomes]
rs73934449	1.00[AFR][1000 genomes]
rs73934491	1.00[AFR][1000 genomes]
rs73934499	1.00[AFR][1000 genomes]
rs73934500	1.00[AFR][1000 genomes]
rs73937503	1.00[AFR][1000 genomes]
rs73937508	1.00[AFR][1000 genomes]
rs73937509	1.00[AFR][1000 genomes]
rs73937512	1.00[AFR][1000 genomes]

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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54787600-54796800	Weak transcription	Aorta	Aorta
2	chr2:54787600-54797000	Weak transcription	Gastric	stomach
3	chr2:54787800-54797200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:54788400-54797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:54788600-54796800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:54788600-54796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:54789600-54796800	Weak transcription	Psoas Muscle	Psoas
8	chr2:54789800-54801400	Enhancers	Liver	Liver
9	chr2:54790000-54797200	Weak transcription	Lung	lung
10	chr2:54791200-54801200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:54791600-54797000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:54791800-54797200	Weak transcription	Spleen	Spleen
13	chr2:54792000-54796800	Weak transcription	Fetal Stomach	stomach
14	chr2:54792200-54796800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:54792400-54796800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:54792400-54796800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:54792400-54797000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:54792400-54797200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:54793000-54799800	Enhancers	Stomach Mucosa	stomach
20	chr2:54794400-54804200	Weak transcription	Ovary	ovary
21	chr2:54794600-54796800	Weak transcription	Small Intestine	intestine
22	chr2:54795000-54796800	Enhancers	Dnd41	blood
23	chr2:54795000-54797600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:54795000-54799400	Enhancers	Fetal Heart	heart
25	chr2:54795200-54799000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:54795200-54799800	Enhancers	Fetal Intestine Large	intestine
27	chr2:54795200-54802200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:54795400-54796800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:54795400-54799200	Enhancers	HUVEC	blood vessel
30	chr2:54795400-54801400	Enhancers	Fetal Thymus	thymus
31	chr2:54795600-54796800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:54795600-54796800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:54795600-54796800	Enhancers	Colon Smooth Muscle	Colon
34	chr2:54795600-54797000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:54795600-54799400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr2:54795600-54802400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:54795800-54797000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:54795800-54797400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:54795800-54797400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:54795800-54797800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:54795800-54798400	Enhancers	NH-A	brain
42	chr2:54795800-54798800	Enhancers	Right Ventricle	heart
43	chr2:54795800-54799200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:54795800-54799400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:54795800-54799400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:54795800-54799400	Flanking Active TSS	A549	lung
47	chr2:54795800-54800000	Enhancers	NHLF	lung
48	chr2:54795800-54801200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:54795800-54801800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr2:54795800-54801800	Enhancers	Fetal Kidney	kidney

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