Variant report

Variant	rs7520163
Chromosome Location	chr1:184762469-184762470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184762166..184764513-chr1:184772880..184774455,2	K562	blood:
2	chr1:184756736..184760849-chr1:184761406..184764611,5	K562	blood:
3	chr1:184722654..184725268-chr1:184761457..184763103,2	K562	blood:
4	chr1:184758252..184761328-chr1:184761790..184766637,6	K562	blood:
5	chr1:184761686..184764642-chr1:184766162..184767830,2	MCF-7	breast:
6	chr1:184761569..184763402-chr1:184763802..184766549,2	K562	blood:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16823452	0.80[AFR][1000 genomes]
rs16823480	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16823513	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16823606	1.00[EUR][1000 genomes]
rs16823626	1.00[EUR][1000 genomes]
rs16823651	1.00[EUR][1000 genomes]
rs2840217	1.00[EUR][1000 genomes]
rs35543943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57144153	1.00[EUR][1000 genomes]
rs57440078	1.00[EUR][1000 genomes]
rs60903884	1.00[EUR][1000 genomes]
rs61372488	0.82[AMR][1000 genomes]
rs6664204	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6673017	1.00[EUR][1000 genomes]
rs6683230	1.00[EUR][1000 genomes]
rs6690708	1.00[EUR][1000 genomes]
rs73050643	1.00[EUR][1000 genomes]
rs74132034	0.82[AMR][1000 genomes]
rs74132036	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs74132037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132050	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7526101	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7528332	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7541371	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184757000-184764200	Weak transcription	Fetal Stomach	stomach
3	chr1:184757600-184763400	Enhancers	Stomach Mucosa	stomach
4	chr1:184758600-184768200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:184759200-184762800	Enhancers	NHLF	lung
6	chr1:184759200-184762800	Enhancers	Osteobl	bone
7	chr1:184759600-184763400	Weak transcription	Gastric	stomach
8	chr1:184759800-184770000	Weak transcription	K562	blood
9	chr1:184760000-184763400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:184760200-184764600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:184760400-184762800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:184760400-184763400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:184760800-184762800	Enhancers	HMEC	breast
14	chr1:184760800-184763000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:184760800-184763800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:184761000-184762600	Enhancers	Pancreas	Pancrea
17	chr1:184761000-184763000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:184761000-184763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:184761000-184763600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:184761200-184762600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:184761200-184762600	Enhancers	Left Ventricle	heart
22	chr1:184761200-184762600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:184761200-184762800	Enhancers	NHEK	skin
24	chr1:184761400-184762600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr1:184761400-184762600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:184761400-184762600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:184761400-184762800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:184761400-184762800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:184761400-184763200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:184761400-184763400	Enhancers	Primary hematopoietic stem cells	blood
31	chr1:184761600-184762600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:184761600-184762600	Enhancers	Fetal Intestine Large	intestine
33	chr1:184761600-184762600	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:184761800-184762600	Enhancers	Colonic Mucosa	Colon
35	chr1:184761800-184762800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:184761800-184763000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:184761800-184763200	Enhancers	NHDF-Ad	bronchial
38	chr1:184761800-184764000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:184761800-184764000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:184761800-184764200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:184761800-184764200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:184761800-184764400	Weak transcription	Esophagus	oesophagus
43	chr1:184762000-184762600	Enhancers	GM12878-XiMat	blood
44	chr1:184762000-184762600	Enhancers	HepG2	liver
45	chr1:184762000-184763000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:184762000-184763800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:184762000-184764000	Enhancers	Liver	Liver
48	chr1:184762000-184764200	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:184762000-184764200	Weak transcription	Lung	lung
50	chr1:184762000-184764200	Weak transcription	Right Ventricle	heart

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