Variant report

Variant	rs60878329
Chromosome Location	chr1:161316464-161316465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161145289..161147391-chr1:161316072..161318637,2	K562	blood:
2	chr1:161315544..161318723-chr1:161321918..161325024,3	K562	blood:

Variant related genes	Relation type
ENSG00000158850	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16832814	0.94[AFR][1000 genomes]
rs16832845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4590682	1.00[AFR][1000 genomes]
rs56718047	0.88[AFR][1000 genomes]
rs58697685	0.82[AFR][1000 genomes]
rs59325217	0.85[AFR][1000 genomes]
rs60821801	0.82[AFR][1000 genomes]
rs60928728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61157192	1.00[AFR][1000 genomes]
rs61271734	0.94[AFR][1000 genomes]
rs61458643	0.85[AFR][1000 genomes]
rs61602668	0.85[AFR][1000 genomes]
rs61734586	0.82[AFR][1000 genomes]
rs73024038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024061	1.00[AFR][1000 genomes]
rs73024097	0.82[AFR][1000 genomes]
rs73024098	0.82[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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161285200-161321400	Weak transcription	Stomach Mucosa	stomach
2	chr1:161285400-161321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
4	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:161289600-161317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:161293200-161317000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:161293200-161317400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:161293800-161317800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:161293800-161317800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:161294000-161317000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:161294000-161317200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:161294200-161318200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:161294200-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:161294200-161338200	Weak transcription	Small Intestine	intestine
15	chr1:161295000-161317000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:161295000-161317800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:161300200-161317200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:161300400-161317400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:161300600-161317200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:161304200-161321400	Weak transcription	Gastric	stomach
21	chr1:161304600-161326600	Weak transcription	Aorta	Aorta
22	chr1:161304600-161342600	Weak transcription	Esophagus	oesophagus
23	chr1:161304800-161329000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:161304800-161329400	Weak transcription	Fetal Kidney	kidney
25	chr1:161304800-161334600	Weak transcription	Fetal Brain Male	brain
26	chr1:161305000-161337800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:161305400-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:161305800-161326400	Weak transcription	NHLF	lung
29	chr1:161306000-161317200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:161306000-161317200	Strong transcription	Liver	Liver
31	chr1:161306000-161317400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:161306800-161317200	Strong transcription	Adipose Nuclei	Adipose
33	chr1:161307400-161337600	Weak transcription	Psoas Muscle	Psoas
34	chr1:161307800-161333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:161308600-161317800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:161308800-161317200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:161308800-161317400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:161309200-161317200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:161310000-161317800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:161310000-161326800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:161310200-161317000	Strong transcription	Dnd41	blood
42	chr1:161310200-161317400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:161310200-161317400	Strong transcription	Primary T cells from cord blood	blood
44	chr1:161310400-161317000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:161310400-161317000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:161310600-161333000	Weak transcription	HUVEC	blood vessel
47	chr1:161310600-161337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:161311200-161326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:161311600-161317800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:161312200-161317200	Strong transcription	Fetal Stomach	stomach

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