Variant report

Variant	rs2897051
Chromosome Location	chr1:224561138-224561139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224551974..224553710-chr1:224558938..224561621,2	K562	blood:
2	chr1:224559948..224562701-chr1:224564566..224567149,2	K562	blood:
3	chr1:224559609..224561234-chr1:224575969..224578597,3	K562	blood:
4	chr1:224559204..224561401-chr1:224561938..224564303,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143771	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10733025	0.85[AMR][1000 genomes]
rs12078630	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1539205	1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2405045	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405048	0.85[AMR][1000 genomes]
rs4233237	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4654035	0.83[AMR][1000 genomes]
rs6426119	0.85[AMR][1000 genomes]
rs6426124	0.85[AMR][1000 genomes]
rs6426128	1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs6660212	0.85[AMR][1000 genomes]
rs6675269	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687870	1.00[AMR][1000 genomes]
rs6692855	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694310	0.85[AMR][1000 genomes]
rs7538718	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224545800-224562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
3	chr1:224546000-224563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:224546000-224564400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:224546800-224562200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
7	chr1:224547400-224561800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:224547800-224562800	Weak transcription	Pancreas	Pancrea
10	chr1:224547800-224568600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:224548000-224576000	Weak transcription	Fetal Brain Male	brain
12	chr1:224550400-224568000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:224550800-224564200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:224550800-224565000	Strong transcription	HUVEC	blood vessel
15	chr1:224551000-224568000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:224551200-224563600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:224551200-224565800	Strong transcription	Primary B cells from cord blood	blood
18	chr1:224551400-224561400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:224551400-224568600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:224551600-224566600	Strong transcription	Dnd41	blood
21	chr1:224551600-224568000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:224551600-224568400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:224551800-224561600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:224552000-224564800	Weak transcription	Psoas Muscle	Psoas
25	chr1:224552600-224563800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:224552800-224562000	Strong transcription	Osteobl	bone
27	chr1:224552800-224564200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:224552800-224565800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:224553000-224562800	Strong transcription	Fetal Thymus	thymus
30	chr1:224553000-224562800	Strong transcription	HSMM	muscle
31	chr1:224553000-224564200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:224553000-224565000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:224553000-224565200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:224553200-224562400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:224553200-224562800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:224553200-224564400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:224553200-224567400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:224553400-224561200	Strong transcription	HMEC	breast
39	chr1:224553400-224562200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:224553400-224562400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:224553400-224565000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:224553400-224567000	Strong transcription	Adipose Nuclei	Adipose
43	chr1:224553400-224567400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr1:224553600-224564400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:224553600-224566000	Strong transcription	Fetal Intestine Large	intestine
46	chr1:224553600-224566400	Strong transcription	Fetal Intestine Small	intestine
47	chr1:224553800-224564200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:224553800-224568800	Strong transcription	Fetal Stomach	stomach
49	chr1:224554200-224565600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:224554400-224563600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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