Variant report

Variant	rs61371401
Chromosome Location	chr1:179981054-179981055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179980682..179985119-chr1:179997024..179999746,4	MCF-7	breast:
2	chr1:179980840..179982638-chr1:180011899..180013783,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11800337	1.00[AMR][1000 genomes]
rs11807136	1.00[AMR][1000 genomes]
rs11811049	1.00[AMR][1000 genomes]
rs3842887	0.80[AFR][1000 genomes]
rs57875912	0.84[AFR][1000 genomes]
rs58605404	0.84[AFR][1000 genomes]
rs59265893	0.84[AFR][1000 genomes]
rs59508309	0.84[AFR][1000 genomes]
rs60065834	0.84[AFR][1000 genomes]
rs60495007	0.84[AFR][1000 genomes]
rs60594364	0.84[AFR][1000 genomes]
rs61554984	0.84[AFR][1000 genomes]
rs73032356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032361	0.84[AFR][1000 genomes]
rs73032364	0.84[AFR][1000 genomes]
rs73032365	0.84[AFR][1000 genomes]
rs73032367	0.84[AFR][1000 genomes]
rs73032369	0.84[AFR][1000 genomes]
rs73032376	0.84[AFR][1000 genomes]
rs73032384	0.84[AFR][1000 genomes]
rs73032387	0.84[AFR][1000 genomes]
rs73032389	0.84[AFR][1000 genomes]
rs73032395	0.84[AFR][1000 genomes]
rs73032399	0.84[AFR][1000 genomes]
rs73034469	0.84[AFR][1000 genomes]
rs73034472	0.84[AFR][1000 genomes]
rs73034474	0.84[AFR][1000 genomes]
rs73034478	0.84[AFR][1000 genomes]
rs73034489	0.84[AFR][1000 genomes]
rs73034495	0.84[AFR][1000 genomes]
rs73036405	0.84[AFR][1000 genomes]
rs73036409	0.84[AFR][1000 genomes]
rs73036425	0.84[AFR][1000 genomes]
rs73036432	0.84[AFR][1000 genomes]
rs73036436	0.84[AFR][1000 genomes]
rs73036437	0.84[AFR][1000 genomes]
rs73036439	0.88[AFR][1000 genomes]
rs73036466	0.80[AFR][1000 genomes]
rs73039997	0.84[AFR][1000 genomes]
rs73041713	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv872573	chr1:179929388-180093066	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv466228	chr1:179944901-180067988	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv548340	chr1:179944901-180067988	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv520322	chr1:179944901-180071987	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv548341	chr1:179945390-180067914	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv520278	chr1:179945390-180093066	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv548342	chr1:179958809-180067988	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv548343	chr1:179958809-180071987	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv548344	chr1:179960787-180071987	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:179938000-179983200	Weak transcription	Brain Germinal Matrix	brain
2	chr1:179938600-179983200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:179938600-179984600	Weak transcription	Lung	lung
4	chr1:179939000-179989000	Weak transcription	Gastric	stomach
5	chr1:179941400-180031800	Weak transcription	Spleen	Spleen
6	chr1:179946400-179983000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:179946400-179989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:179946600-179983200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:179947800-179989400	Weak transcription	Small Intestine	intestine
10	chr1:179948600-179983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:179955000-179989200	Weak transcription	Aorta	Aorta
12	chr1:179955800-179983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:179956800-179989400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:179958600-179991600	Weak transcription	Fetal Brain Male	brain
15	chr1:179959200-179983200	Weak transcription	NHLF	lung
16	chr1:179959600-179983000	Weak transcription	Colonic Mucosa	Colon
17	chr1:179962000-179989200	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:179962400-179983200	Weak transcription	A549	lung
19	chr1:179964000-179989200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:179964000-180014200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:179964400-179984600	Weak transcription	HUVEC	blood vessel
22	chr1:179964600-179984200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:179965800-180013200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:179966400-179981600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:179966400-179983200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:179966400-179983200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:179966600-179983000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:179966600-179983000	Weak transcription	Fetal Brain Female	brain
29	chr1:179966600-179983000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:179966600-179983000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:179966600-179983200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:179966600-179983200	Weak transcription	Left Ventricle	heart
33	chr1:179966600-179988000	Weak transcription	Pancreas	Pancrea
34	chr1:179966600-179988000	Weak transcription	Right Ventricle	heart
35	chr1:179966800-179983200	Weak transcription	Esophagus	oesophagus
36	chr1:179966800-179983200	Weak transcription	Fetal Stomach	stomach
37	chr1:179967000-179983200	Weak transcription	HepG2	liver
38	chr1:179968000-179983000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:179969800-179983000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:179970800-180076800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:179971600-179997400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:179972000-179982800	Weak transcription	Osteobl	bone
43	chr1:179972000-179983400	Weak transcription	HMEC	breast
44	chr1:179972200-179983200	Weak transcription	NHEK	skin
45	chr1:179972800-179983200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:179973000-180010800	Weak transcription	Psoas Muscle	Psoas
47	chr1:179973200-179981600	Weak transcription	Brain Anterior Caudate	brain
48	chr1:179973200-179981600	Weak transcription	HSMMtube	muscle
49	chr1:179973400-179988000	Weak transcription	Fetal Heart	heart
50	chr1:179973600-179983000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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