Variant report

Variant	rs73051218
Chromosome Location	chr1:180644607-180644608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180600246..180602406-chr1:180641858..180644833,2	K562	blood:

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10914067	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487340	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060106	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063811	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073959	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075181	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075718	1.00[EUR][1000 genomes]
rs12079057	1.00[EUR][1000 genomes]
rs12084966	0.87[EUR][1000 genomes]
rs12088166	0.82[AFR][1000 genomes]
rs12094045	0.82[AFR][1000 genomes]
rs12238979	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240182	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374649	1.00[EUR][1000 genomes]
rs28556586	1.00[EUR][1000 genomes]
rs6671675	1.00[EUR][1000 genomes]
rs6692545	1.00[EUR][1000 genomes]
rs6700702	1.00[EUR][1000 genomes]
rs73036505	1.00[EUR][1000 genomes]
rs73036508	1.00[EUR][1000 genomes]
rs73047686	1.00[EUR][1000 genomes]
rs73047695	1.00[EUR][1000 genomes]
rs73049484	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049487	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051239	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7553766	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7556291	0.91[AMR][1000 genomes];1.00[EUR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv947336	chr1:180642298-180656857	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:180633200-180672000	Weak transcription	K562	blood
4	chr1:180635000-180644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:180636400-180647200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:180636400-180651800	Weak transcription	Ovary	ovary
8	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
9	chr1:180640600-180660600	Weak transcription	Right Ventricle	heart
10	chr1:180641000-180653200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:180641200-180647400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:180641200-180653400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:180641400-180644800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:180641600-180661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:180641800-180644800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:180642200-180658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:180642800-180644800	Weak transcription	Aorta	Aorta
19	chr1:180642800-180644800	Weak transcription	Small Intestine	intestine
20	chr1:180642800-180646200	Weak transcription	Pancreas	Pancrea
21	chr1:180643000-180651400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:180643000-180659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:180643200-180647200	Weak transcription	Primary T cells from cord blood	blood
24	chr1:180643800-180645000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:180643800-180645000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:180643800-180645200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:180643800-180645200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:180644000-180645800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:180644000-180646200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:180644000-180660400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:180644000-180660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
33	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:180644200-180645000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:180644200-180645400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:180644200-180645800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:180644200-180645800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:180644400-180644800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:180644400-180644800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:180644400-180645000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:180644400-180645000	Enhancers	Stomach Mucosa	stomach
42	chr1:180644400-180645200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr1:180644400-180645200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:180644400-180645200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:180644400-180645200	Enhancers	A549	lung
46	chr1:180644600-180644800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:180644600-180645200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:180644600-180645200	Enhancers	NHEK	skin

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