Variant report

Variant	rs56718047
Chromosome Location	chr1:161285539-161285540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161014785..161017336-chr1:161283873..161286388,3	K562	blood:
2	chr1:161282416..161286426-chr1:161334773..161339073,4	K562	blood:
3	chr1:161177155..161181241-chr1:161281992..161286131,5	K562	blood:
4	chr1:161282812..161285638-chr1:161335844..161339793,4	MCF-7	breast:
5	chr1:161167845..161171671-chr1:161283687..161286298,5	K562	blood:
6	chr1:161199531..161202492-chr1:161284908..161286481,2	K562	blood:
7	chr1:161284338..161286990-chr1:161287610..161289670,3	MCF-7	breast:
8	chr1:161194292..161205045-chr1:161279588..161288493,17	K562	blood:
9	chr1:161284181..161285749-chr1:161296030..161299261,3	K562	blood:
10	chr1:161284112..161286514-chr1:161369211..161371355,2	K562	blood:
11	chr1:161281081..161283792-chr1:161284991..161286522,2	MCF-7	breast:
12	chr1:161194451..161198420-chr1:161282525..161287303,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263548	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000143257	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000206921	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000188931	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16832814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832845	0.88[AFR][1000 genomes]
rs4590682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59325217	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60821801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60878329	0.88[AFR][1000 genomes]
rs60928728	0.88[AFR][1000 genomes]
rs61157192	0.88[AFR][1000 genomes]
rs61271734	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61458643	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602668	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73024038	0.94[AFR][1000 genomes]
rs73024061	0.88[AFR][1000 genomes];1.00[AMR][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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161284000-161285600	Active TSS	HSMM	muscle
2	chr1:161284800-161285600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:161284800-161286400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:161284800-161288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:161284800-161289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:161284800-161293600	Weak transcription	Small Intestine	intestine
7	chr1:161284800-161295000	Weak transcription	Spleen	Spleen
8	chr1:161284800-161300400	Weak transcription	Aorta	Aorta
9	chr1:161285000-161285600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:161285000-161285600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:161285000-161285600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:161285000-161285600	Enhancers	Esophagus	oesophagus
13	chr1:161285000-161285600	Flanking Active TSS	Hela-S3	cervix
14	chr1:161285000-161285800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:161285000-161286200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:161285000-161286600	Flanking Active TSS	K562	blood
17	chr1:161285000-161288200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:161285000-161288200	Weak transcription	Pancreas	Pancrea
19	chr1:161285000-161288600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:161285000-161288600	Weak transcription	Placenta	Placenta
21	chr1:161285000-161288600	Weak transcription	Ovary	ovary
22	chr1:161285000-161293400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:161285000-161295600	Weak transcription	Gastric	stomach
24	chr1:161285000-161296600	Weak transcription	Colonic Mucosa	Colon
25	chr1:161285000-161298400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:161285000-161301800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:161285200-161285600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:161285200-161285600	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:161285200-161285600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:161285200-161285600	Enhancers	Brain Anterior Caudate	brain
31	chr1:161285200-161285600	Enhancers	Brain Germinal Matrix	brain
32	chr1:161285200-161285600	Enhancers	Fetal Intestine Large	intestine
33	chr1:161285200-161285800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:161285200-161285800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:161285200-161285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:161285200-161285800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:161285200-161285800	Weak transcription	Left Ventricle	heart
38	chr1:161285200-161288200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:161285200-161289200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:161285200-161289400	Weak transcription	Thymus	Thymus
41	chr1:161285200-161293400	Weak transcription	Fetal Brain Female	brain
42	chr1:161285200-161293800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:161285200-161293800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:161285200-161293800	Weak transcription	Adipose Nuclei	Adipose
45	chr1:161285200-161293800	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:161285200-161293800	Weak transcription	Fetal Thymus	thymus
47	chr1:161285200-161295400	Weak transcription	Primary B cells from cord blood	blood
48	chr1:161285200-161295400	Weak transcription	Brain Substantia Nigra	brain
49	chr1:161285200-161295400	Weak transcription	Fetal Kidney	kidney
50	chr1:161285200-161295400	Weak transcription	Right Ventricle	heart

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