Variant report

Variant	rs72725182
Chromosome Location	chr1:94534980-94534981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94532586..94535624-chr1:94566931..94569461,4	MCF-7	breast:
2	chr1:94533904..94535691-chr1:94564792..94567232,2	MCF-7	breast:
3	chr1:94527285..94528858-chr1:94532743..94535509,2	MCF-7	breast:
4	chr1:94526671..94528632-chr1:94533088..94535694,2	K562	blood:
5	chr1:94532251..94537168-chr1:94582958..94586481,4	MCF-7	breast:
6	chr1:94532845..94535328-chr1:94609574..94612339,2	MCF-7	breast:
7	chr1:94529817..94533865-chr1:94534670..94536843,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	Chromatin interaction
ENSG00000233482	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17392507	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41292683	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4147835	0.87[EUR][1000 genomes]
rs55712710	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56197337	0.87[EUR][1000 genomes]
rs56375042	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6658767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72725166	0.83[AMR][1000 genomes]
rs72725167	0.87[EUR][1000 genomes]
rs72725169	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725178	1.00[AMR][1000 genomes];1.00[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	nsv871172	chr1:94504545-94535546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94530000-94535600	Weak transcription	Esophagus	oesophagus
2	chr1:94530000-94537600	Weak transcription	Fetal Heart	heart
3	chr1:94531400-94539200	Enhancers	HUVEC	blood vessel
4	chr1:94531600-94536400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:94532000-94538600	Enhancers	Fetal Thymus	thymus
6	chr1:94532200-94535600	Enhancers	NH-A	brain
7	chr1:94532400-94535800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:94532400-94535800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:94533000-94535600	Enhancers	Osteobl	bone
10	chr1:94533000-94536000	Enhancers	Hela-S3	cervix
11	chr1:94533000-94537000	Enhancers	Fetal Kidney	kidney
12	chr1:94533000-94539600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:94533200-94536200	Enhancers	NHLF	lung
14	chr1:94533200-94536600	Enhancers	Adipose Nuclei	Adipose
15	chr1:94533200-94536800	Enhancers	Gastric	stomach
16	chr1:94533200-94539600	Enhancers	Thymus	Thymus
17	chr1:94533400-94535000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:94533400-94536400	Enhancers	Fetal Intestine Small	intestine
19	chr1:94533400-94536400	Enhancers	Stomach Mucosa	stomach
20	chr1:94533600-94535000	Flanking Active TSS	HepG2	liver
21	chr1:94533600-94535200	Flanking Active TSS	A549	lung
22	chr1:94533600-94535400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:94533600-94535400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:94533600-94535400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:94533600-94535800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:94533600-94535800	Enhancers	Brain Anterior Caudate	brain
27	chr1:94533600-94535800	Enhancers	Fetal Intestine Large	intestine
28	chr1:94533600-94535800	Enhancers	HSMM	muscle
29	chr1:94533600-94536000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:94533600-94536400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:94533600-94536400	Enhancers	Placenta	Placenta
32	chr1:94533600-94536400	Enhancers	Psoas Muscle	Psoas
33	chr1:94533600-94536400	Enhancers	Right Atrium	heart
34	chr1:94533600-94536600	Enhancers	Left Ventricle	heart
35	chr1:94533600-94536600	Enhancers	Lung	lung
36	chr1:94533600-94536800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:94533600-94536800	Enhancers	Spleen	Spleen
38	chr1:94533600-94537400	Enhancers	Fetal Muscle Leg	muscle
39	chr1:94533600-94539600	Enhancers	Pancreas	Pancrea
40	chr1:94533800-94535600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr1:94533800-94535800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:94533800-94536000	Enhancers	Brain Hippocampus Middle	brain
43	chr1:94533800-94536000	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:94533800-94536000	Enhancers	Dnd41	blood
45	chr1:94533800-94536400	Enhancers	Brain Angular Gyrus	brain
46	chr1:94534000-94535200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr1:94534000-94536000	Enhancers	Fetal Lung	lung
48	chr1:94534000-94536200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:94534000-94536800	Enhancers	Colon Smooth Muscle	Colon
50	chr1:94534000-94538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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