Variant report

Variant	rs1524667
Chromosome Location	chr2:9767771-9767772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9694403..9696782-chr2:9766048..9768142,2	K562	blood:
2	chr2:9767473..9774138-chr2:9774735..9780659,16	MCF-7	breast:
3	chr2:9694267..9698929-chr2:9766642..9773016,9	K562	blood:
4	chr2:9767218..9769003-chr2:9785866..9787851,2	K562	blood:

Variant related genes	Relation type
ENSG00000151694	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000240687	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10929591	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357157	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4668625	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669400	0.87[ASN][1000 genomes]
rs4669401	0.84[ASN][1000 genomes]
rs6432024	0.87[ASN][1000 genomes]
rs6432025	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6706227	0.81[AFR][1000 genomes]
rs6720625	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7558086	0.81[AFR][1000 genomes];0.87[ASN][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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr2:9749000-9769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:9749200-9768000	Weak transcription	Stomach Mucosa	stomach
3	chr2:9749600-9768200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:9752200-9768200	Weak transcription	Colonic Mucosa	Colon
5	chr2:9754200-9768800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:9756200-9767800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:9758000-9769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:9760400-9768000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:9761600-9768800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:9761800-9769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:9763000-9768600	Genic enhancers	HepG2	liver
12	chr2:9764200-9768800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:9764200-9768800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:9764600-9768400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:9764800-9767800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:9764800-9768400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:9764800-9769800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:9765400-9767800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:9765400-9768000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:9765400-9769000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:9765400-9769200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:9765600-9768000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:9765600-9768000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:9765600-9768200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
25	chr2:9765600-9768800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:9765600-9769400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:9765800-9768800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:9765800-9769200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:9765800-9769600	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr2:9765800-9769600	Enhancers	Small Intestine	intestine
31	chr2:9765800-9770400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:9766000-9767800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:9766200-9769000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:9766400-9767800	Enhancers	Fetal Brain Male	brain
35	chr2:9766400-9768000	Enhancers	Right Ventricle	heart
36	chr2:9766400-9768200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:9766400-9768200	Genic enhancers	Fetal Intestine Small	intestine
38	chr2:9766400-9768200	Genic enhancers	Fetal Muscle Leg	muscle
39	chr2:9766400-9768600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:9766400-9768600	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr2:9766400-9768800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:9766400-9768800	Enhancers	Colon Smooth Muscle	Colon
43	chr2:9766400-9769000	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr2:9766400-9769200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:9766400-9769600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:9766600-9767800	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr2:9766600-9767800	Strong transcription	Fetal Intestine Large	intestine
48	chr2:9766600-9768000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:9766800-9767800	Genic enhancers	Duodenum Mucosa	Duodenum
50	chr2:9766800-9767800	Genic enhancers	HUVEC	blood vessel

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