Variant report

Variant	rs72714983
Chromosome Location	chr1:161322179-161322180
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161320615..161322743-chr1:161325613..161327918,2	K562	blood:
2	chr1:161145840..161148290-chr1:161321074..161323037,2	MCF-7	breast:
3	chr1:161315544..161318723-chr1:161321918..161325024,3	K562	blood:

Variant related genes	Relation type
ENSG00000158850	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11577663	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11578160	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11579939	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11580931	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11583870	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11584714	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11585941	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16832847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16832849	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16832911	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16832913	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16832945	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4272646	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4656296	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6427589	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72714971	0.93[AMR][1000 genomes]
rs72714973	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714981	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714982	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72714985	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72715002	0.96[AMR][1000 genomes]
rs7519821	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7538701	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9793329	0.96[AMR][1000 genomes];0.84[EUR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
2	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:161294200-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:161294200-161338200	Weak transcription	Small Intestine	intestine
5	chr1:161304600-161326600	Weak transcription	Aorta	Aorta
6	chr1:161304600-161342600	Weak transcription	Esophagus	oesophagus
7	chr1:161304800-161329000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:161304800-161329400	Weak transcription	Fetal Kidney	kidney
9	chr1:161304800-161334600	Weak transcription	Fetal Brain Male	brain
10	chr1:161305000-161337800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:161305400-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:161305800-161326400	Weak transcription	NHLF	lung
13	chr1:161307400-161337600	Weak transcription	Psoas Muscle	Psoas
14	chr1:161307800-161333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:161310000-161326800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:161310600-161333000	Weak transcription	HUVEC	blood vessel
17	chr1:161310600-161337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:161311200-161326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:161312400-161326800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:161312600-161333000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:161312600-161335800	Weak transcription	Brain Substantia Nigra	brain
22	chr1:161312600-161341200	Weak transcription	HMEC	breast
23	chr1:161312800-161326600	Weak transcription	Ovary	ovary
24	chr1:161313000-161326600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:161313000-161326800	Weak transcription	Lung	lung
26	chr1:161313000-161333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:161313000-161333000	Weak transcription	Colonic Mucosa	Colon
28	chr1:161313000-161333200	Weak transcription	NHDF-Ad	bronchial
29	chr1:161313000-161337600	Weak transcription	Spleen	Spleen
30	chr1:161313000-161338400	Weak transcription	Pancreas	Pancrea
31	chr1:161313000-161341000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:161313000-161341200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:161313200-161326400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:161313200-161326400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:161313200-161327000	Weak transcription	Brain Germinal Matrix	brain
36	chr1:161313200-161333200	Weak transcription	HSMMtube	muscle
37	chr1:161313200-161334600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:161313200-161337600	Weak transcription	Right Ventricle	heart
39	chr1:161313400-161326600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:161313400-161326600	Weak transcription	Thymus	Thymus
41	chr1:161313400-161327400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:161313400-161333000	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:161313400-161334400	Weak transcription	K562	blood
44	chr1:161313400-161336000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:161313600-161329400	Weak transcription	Primary B cells from cord blood	blood
46	chr1:161313600-161333000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:161313600-161333000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:161315000-161326600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:161315000-161326600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:161315000-161333000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links