Variant report

Variant	rs4653761
Chromosome Location	chr1:226822977-226822978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226814548..226816082-chr1:226822022..226824238,2	K562	blood:
2	chr1:226820706..226823635-chr1:226824832..226827182,2	MCF-7	breast:
3	chr1:226821832..226824273-chr1:227126167..227129027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

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]
rs4653458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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]
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	esv992736	chr1:226822940-226827146	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226814200-226823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
4	chr1:226814600-226824200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:226814600-226824800	Weak transcription	Liver	Liver
6	chr1:226814800-226830400	Strong transcription	Thymus	Thymus
7	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
9	chr1:226815000-226823800	Weak transcription	Ovary	ovary
10	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
11	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:226817200-226825400	Strong transcription	Lung	lung
13	chr1:226817200-226828000	Weak transcription	Fetal Brain Female	brain
14	chr1:226817200-226830600	Strong transcription	Fetal Intestine Small	intestine
15	chr1:226817800-226828000	Weak transcription	Aorta	Aorta
16	chr1:226818000-226824400	Weak transcription	Fetal Lung	lung
17	chr1:226818200-226826400	Weak transcription	Pancreas	Pancrea
18	chr1:226818600-226823400	Enhancers	Primary B cells from cord blood	blood
19	chr1:226818600-226823400	Genic enhancers	Stomach Smooth Muscle	stomach
20	chr1:226818600-226825200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:226819200-226825200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:226819200-226830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:226819400-226823200	Genic enhancers	Brain Hippocampus Middle	brain
24	chr1:226819600-226826600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:226819800-226823000	Genic enhancers	Fetal Muscle Leg	muscle
26	chr1:226819800-226823200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:226819800-226824000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:226819800-226825400	Genic enhancers	Spleen	Spleen
29	chr1:226820000-226823000	Strong transcription	Dnd41	blood
30	chr1:226820000-226824600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:226820200-226824000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:226820400-226823000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:226820400-226828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr1:226820600-226823200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:226820600-226824200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:226820600-226824400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:226820600-226824400	Genic enhancers	Fetal Thymus	thymus
39	chr1:226820600-226825200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:226820800-226824800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:226820800-226825000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:226820800-226831000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:226821000-226823800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:226821200-226823600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:226821400-226823400	Weak transcription	Fetal Intestine Large	intestine
46	chr1:226821400-226823600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:226821400-226825400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:226821400-226825400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:226821600-226823000	Enhancers	Placenta	Placenta
50	chr1:226821600-226823200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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