Variant report

Variant	rs72890563
Chromosome Location	chr1:45792815-45792816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45792571..45793075-chr18:60987882..60988645,2	NB4	blood:
2	chr1:45239120..45241332-chr1:45791284..45793108,2	K562	blood:
3	chr1:45478895..45481686-chr1:45791437..45793067,2	MCF-7	breast:
4	chr1:45791057..45793075-chr1:45795554..45797177,2	MCF-7	breast:
5	chr1:45792382..45793922-chr1:45796241..45797777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000142937	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59264386	1.00[AFR][1000 genomes]
rs59474035	1.00[AFR][1000 genomes]
rs72890587	1.00[AFR][1000 genomes]
rs72892507	0.87[AFR][1000 genomes]
rs72892508	0.87[AFR][1000 genomes]
rs72892530	1.00[AFR][1000 genomes]
rs72894312	1.00[AFR][1000 genomes]
rs72894361	1.00[AFR][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	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45787200-45796600	Weak transcription	HepG2	liver
2	chr1:45788600-45793400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:45789800-45795000	Weak transcription	K562	blood
4	chr1:45791000-45793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:45791000-45793600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:45791600-45794000	Enhancers	Fetal Heart	heart
7	chr1:45791800-45794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:45791800-45794000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:45791800-45794000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:45792000-45793000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:45792000-45793000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr1:45792000-45793200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:45792000-45793200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:45792000-45793200	Active TSS	Brain Angular Gyrus	brain
15	chr1:45792000-45793200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr1:45792000-45793200	Flanking Active TSS	Dnd41	blood
17	chr1:45792000-45793600	Enhancers	Fetal Brain Male	brain
18	chr1:45792000-45793600	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr1:45792000-45793600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:45792000-45793800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr1:45792000-45794000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:45792000-45794000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr1:45792000-45794400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:45792000-45794400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:45792200-45793000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:45792200-45793000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:45792200-45793000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:45792200-45793000	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:45792200-45793000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:45792200-45793000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:45792200-45793000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:45792200-45793000	Active TSS	Aorta	Aorta
33	chr1:45792200-45793000	Flanking Active TSS	Liver	Liver
34	chr1:45792200-45793000	Active TSS	Brain Hippocampus Middle	brain
35	chr1:45792200-45793000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr1:45792200-45793000	Active TSS	Ovary	ovary
37	chr1:45792200-45793000	Active TSS	Psoas Muscle	Psoas
38	chr1:45792200-45793000	Active TSS	Small Intestine	intestine
39	chr1:45792200-45793000	Active TSS	Thymus	Thymus
40	chr1:45792200-45793000	Active TSS	HSMM	muscle
41	chr1:45792200-45793000	Flanking Active TSS	NHLF	lung
42	chr1:45792200-45793000	Flanking Active TSS	Osteobl	bone
43	chr1:45792200-45793200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:45792200-45793200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:45792200-45793200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr1:45792200-45793200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr1:45792200-45793200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:45792200-45793200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:45792200-45793200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr1:45792200-45793200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links