Variant report

Variant	rs4653458
Chromosome Location	chr1:226827619-226827620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3754388	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41268731	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41440951	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653456	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653459	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653460	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653760	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4653761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73098900	0.86[EUR][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	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv516277	chr1:226825341-226833304	Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
2	chr1:226814800-226830400	Strong transcription	Thymus	Thymus
3	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
5	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
6	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:226817200-226828000	Weak transcription	Fetal Brain Female	brain
8	chr1:226817200-226830600	Strong transcription	Fetal Intestine Small	intestine
9	chr1:226817800-226828000	Weak transcription	Aorta	Aorta
10	chr1:226819200-226830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:226820400-226828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr1:226820800-226831000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:226822000-226828200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:226822000-226833400	Weak transcription	Fetal Heart	heart
16	chr1:226822800-226828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226823200-226830000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:226823200-226834800	Weak transcription	Fetal Kidney	kidney
19	chr1:226823200-226841400	Weak transcription	NHDF-Ad	bronchial
20	chr1:226823400-226828200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:226823400-226828400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
22	chr1:226823400-226828600	Strong transcription	Fetal Intestine Large	intestine
23	chr1:226823400-226834400	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr1:226823600-226830000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:226823600-226830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:226823600-226831000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:226823800-226829800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:226823800-226829800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:226823800-226830400	Weak transcription	HMEC	breast
30	chr1:226823800-226830600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:226823800-226830600	Strong transcription	Esophagus	oesophagus
32	chr1:226823800-226830600	Weak transcription	Stomach Mucosa	stomach
33	chr1:226823800-226830600	Weak transcription	NHEK	skin
34	chr1:226823800-226837400	Strong transcription	Dnd41	blood
35	chr1:226824000-226828000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:226824000-226829600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:226824000-226834800	Genic enhancers	Fetal Muscle Leg	muscle
38	chr1:226824200-226827800	Strong transcription	Primary B cells from cord blood	blood
39	chr1:226824200-226828000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:226824200-226828400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:226824200-226829600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:226824200-226830000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:226824200-226830800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:226824200-226830800	Strong transcription	Gastric	stomach
45	chr1:226824400-226827800	Strong transcription	Fetal Lung	lung
46	chr1:226824400-226830400	Strong transcription	Fetal Thymus	thymus
47	chr1:226824600-226828800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:226824800-226830400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:226824800-226836800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:226825000-226830000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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