Variant report

Variant	rs11123753
Chromosome Location	chr2:99425146-99425147
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99419187..99420938-chr2:99424125..99425695,2	MCF-7	breast:
2	chr2:99346420..99348928-chr2:99424461..99427357,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10153924	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12232948	0.85[EUR][1000 genomes]
rs1399512	1.00[ASN][1000 genomes]
rs1517679	1.00[ASN][1000 genomes]
rs1517680	1.00[ASN][1000 genomes]
rs1574516	0.87[AMR][1000 genomes]
rs4850884	1.00[ASN][1000 genomes]
rs4850886	1.00[ASN][1000 genomes]
rs4850887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851149	1.00[ASN][1000 genomes]
rs4851152	1.00[ASN][1000 genomes]
rs4851155	1.00[ASN][1000 genomes]
rs4851156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67008211	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811067	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811068	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811073	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811074	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811075	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811079	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811084	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811092	0.94[AMR][1000 genomes]
rs72811098	1.00[AMR][1000 genomes]
rs72811102	1.00[AMR][1000 genomes]
rs72813003	1.00[AMR][1000 genomes]
rs72813009	0.87[AMR][1000 genomes]
rs72813012	0.87[AMR][1000 genomes]
rs72813013	0.87[AMR][1000 genomes]
rs72813016	0.87[AMR][1000 genomes]
rs72813021	0.87[AMR][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99409200-99425800	Weak transcription	Small Intestine	intestine
2	chr2:99409600-99426400	Weak transcription	Esophagus	oesophagus
3	chr2:99414000-99426600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:99418000-99442200	Weak transcription	Stomach Mucosa	stomach
5	chr2:99420800-99426800	Enhancers	Fetal Thymus	thymus
6	chr2:99421200-99427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:99422800-99426600	Weak transcription	Aorta	Aorta
8	chr2:99423000-99426400	Weak transcription	Gastric	stomach
9	chr2:99423000-99432200	Weak transcription	Right Atrium	heart
10	chr2:99423200-99426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:99423200-99426400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:99423200-99427000	Weak transcription	Fetal Kidney	kidney
13	chr2:99423400-99425400	Weak transcription	HepG2	liver
14	chr2:99423400-99426400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:99423400-99439200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:99423600-99439200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:99423800-99426600	Weak transcription	Spleen	Spleen
18	chr2:99423800-99434200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:99424000-99425400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:99424000-99426200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:99424000-99426200	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:99424000-99426200	Weak transcription	Fetal Lung	lung
23	chr2:99424000-99426600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:99424000-99426800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:99424000-99432000	Weak transcription	Right Ventricle	heart
26	chr2:99424000-99435600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:99424000-99438400	Weak transcription	Pancreas	Pancrea
28	chr2:99424400-99425400	Weak transcription	Thymus	Thymus
29	chr2:99424400-99425600	Enhancers	Fetal Muscle Leg	muscle
30	chr2:99424400-99426000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:99424600-99426000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr2:99424800-99434800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:99425000-99425600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:99425000-99426000	Genic enhancers	Lung	lung
35	chr2:99425000-99426200	Weak transcription	HMEC	breast
36	chr2:99425000-99426400	Strong transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links