Variant report

Variant	rs59023024
Chromosome Location	chr7:47982473-47982474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47980359..47983354-chr7:48017215..48020655,3	K562	blood:
2	chr7:47977182..47979989-chr7:47980924..47982675,2	MCF-7	breast:
3	chr7:47976259..47978373-chr7:47980389..47982927,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10261436	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499669	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12667562	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12669119	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131948	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1829730	0.82[ASN][1000 genomes]
rs2307252	0.85[EUR][1000 genomes]
rs2348665	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3176491	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3176568	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3176581	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3176595	0.94[EUR][1000 genomes]
rs36213466	0.87[AMR][1000 genomes]
rs4720625	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56075223	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59920101	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62447088	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62447089	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62447093	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6463454	0.82[ASN][1000 genomes]
rs73695940	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs885338	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47967600-47993400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:47976000-47986000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:47977400-48000600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:47978400-47983600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:47978400-47993800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:47978400-47994000	Weak transcription	Fetal Thymus	thymus
8	chr7:47978600-47992600	Weak transcription	Primary B cells from cord blood	blood
9	chr7:47978800-47983600	Enhancers	NHLF	lung
10	chr7:47979400-47983800	Enhancers	NHDF-Ad	bronchial
11	chr7:47979600-47984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:47979600-47986000	Enhancers	HUVEC	blood vessel
13	chr7:47980600-47986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:47980600-47994200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:47980800-47989800	Weak transcription	Fetal Lung	lung
16	chr7:47980800-47993000	Weak transcription	Fetal Stomach	stomach
17	chr7:47981000-47986000	Weak transcription	Fetal Intestine Small	intestine
18	chr7:47981000-47986200	Weak transcription	Fetal Intestine Large	intestine
19	chr7:47981200-47983000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:47981200-47983800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:47981200-47984200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:47981200-47985600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:47981200-47991400	Weak transcription	Colonic Mucosa	Colon
24	chr7:47981200-47995600	Weak transcription	Aorta	Aorta
25	chr7:47981400-47982800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:47981400-47983000	Weak transcription	Adipose Nuclei	Adipose
27	chr7:47981400-47986000	Weak transcription	NHEK	skin
28	chr7:47981400-47986200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:47981400-47989400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:47981800-47982800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:47981800-47983000	Weak transcription	Lung	lung
32	chr7:47981800-47983200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:47981800-47983400	Weak transcription	Right Atrium	heart
34	chr7:47981800-47983800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:47981800-47986000	Weak transcription	Right Ventricle	heart
36	chr7:47981800-47986000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:47981800-47986000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:47981800-47989800	Weak transcription	Brain Substantia Nigra	brain
39	chr7:47981800-47989800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:47981800-47990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:47981800-47990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:47981800-47991200	Weak transcription	A549	lung
43	chr7:47981800-47991600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:47982000-47983000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:47982000-47983000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:47982000-47983000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:47982000-47983000	Weak transcription	Left Ventricle	heart
48	chr7:47982000-47983000	Weak transcription	HSMM	muscle
49	chr7:47982000-47983000	Weak transcription	Osteobl	bone
50	chr7:47982000-47983400	Weak transcription	Spleen	Spleen

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