Variant report

Variant	rs10518319
Chromosome Location	chr4:119812197-119812198
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	chr4:119692020..119693847-chr4:119810321..119812846,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11098461	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11725297	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936305	0.85[ASN][1000 genomes]
rs11937710	0.87[AMR][1000 genomes]
rs12374349	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57672192	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58608417	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60919368	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62326792	0.84[ASN][1000 genomes]
rs72671606	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7676506	0.82[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119809200-119813800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:119809400-119812600	Active TSS	Brain Cingulate Gyrus	brain
3	chr4:119809400-119813800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:119809400-119813800	Active TSS	Fetal Stomach	stomach
5	chr4:119809600-119812200	Active TSS	Psoas Muscle	Psoas
6	chr4:119809600-119812400	Active TSS	Brain Anterior Caudate	brain
7	chr4:119809600-119812400	Active TSS	Brain Hippocampus Middle	brain
8	chr4:119809600-119812800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:119809600-119813000	Active TSS	Brain Angular Gyrus	brain
10	chr4:119809600-119813000	Active TSS	Right Ventricle	heart
11	chr4:119809600-119813000	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:119809600-119813400	Active TSS	Colon Smooth Muscle	Colon
13	chr4:119809600-119813800	Active TSS	Rectal Smooth Muscle	rectum
14	chr4:119809600-119813800	Active TSS	Right Atrium	heart
15	chr4:119809600-119814400	Active TSS	Aorta	Aorta
16	chr4:119809600-119814400	Active TSS	Ovary	ovary
17	chr4:119809600-119816200	Active TSS	Stomach Smooth Muscle	stomach
18	chr4:119809800-119812200	Active TSS	Fetal Kidney	kidney
19	chr4:119809800-119813000	Active TSS	Left Ventricle	heart
20	chr4:119810000-119812400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr4:119810200-119813000	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr4:119810400-119812400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr4:119810400-119813000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:119810400-119816800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:119810600-119812200	Active TSS	Adipose Nuclei	Adipose
26	chr4:119810600-119812200	Active TSS	Duodenum Mucosa	Duodenum
27	chr4:119810600-119812200	Enhancers	HMEC	breast
28	chr4:119810800-119813000	Active TSS	Fetal Intestine Small	intestine
29	chr4:119811000-119812200	Active TSS	Colonic Mucosa	Colon
30	chr4:119811000-119813000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr4:119811200-119812200	Enhancers	HSMMtube	muscle
32	chr4:119811200-119812400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr4:119811200-119813000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr4:119811200-119819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:119811400-119812200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:119811400-119812200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:119811400-119812200	Flanking Active TSS	NHEK	skin
38	chr4:119811400-119812200	Flanking Active TSS	Osteobl	bone
39	chr4:119811600-119812200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:119811600-119812200	Active TSS	Esophagus	oesophagus
41	chr4:119811600-119812200	Bivalent/Poised TSS	Thymus	Thymus
42	chr4:119811800-119812200	Active TSS	NHDF-Ad	bronchial
43	chr4:119811800-119820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:119812000-119812200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:119812000-119812200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:119812000-119812200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:119812000-119812200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:119812000-119812200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:119812000-119812200	Flanking Active TSS	Fetal Heart	heart
50	chr4:119812000-119812200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links