Variant report

Variant	rs28595856
Chromosome Location	chr2:46480155-46480156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46478650..46481969-chr2:46521843..46525540,3	MCF-7	breast:
2	chr2:46477776..46481247-chr2:46482049..46485847,4	K562	blood:
3	chr2:46479816..46482357-chr2:46596198..46598325,2	K562	blood:
4	chr2:46478756..46480411-chr2:46487239..46489052,2	MCF-7	breast:
5	chr2:46391816..46394718-chr2:46479092..46481479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233335	Chromatin interaction
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10189575	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13421736	1.00[EUR][1000 genomes]
rs57990249	0.90[AFR][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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46474400-46486600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:46478600-46480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:46478600-46480800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:46478600-46480800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:46478600-46481000	Enhancers	Adipose Nuclei	Adipose
6	chr2:46478600-46481000	Enhancers	Left Ventricle	heart
7	chr2:46478600-46481000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:46478600-46481000	Enhancers	NHEK	skin
9	chr2:46478600-46481200	Enhancers	Fetal Muscle Leg	muscle
10	chr2:46478600-46481200	Enhancers	Placenta	Placenta
11	chr2:46478600-46481400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:46478800-46480200	Enhancers	Right Atrium	heart
13	chr2:46478800-46480600	Enhancers	Fetal Kidney	kidney
14	chr2:46478800-46480800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:46478800-46480800	Enhancers	HMEC	breast
16	chr2:46478800-46481200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:46479000-46480800	Enhancers	Fetal Lung	lung
18	chr2:46479200-46480800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:46479200-46481000	Enhancers	Fetal Stomach	stomach
20	chr2:46479200-46481200	Enhancers	Lung	lung
21	chr2:46479400-46480400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:46479400-46480600	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:46479400-46480800	Enhancers	Fetal Heart	heart
24	chr2:46479400-46481000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:46479400-46481000	Enhancers	Right Ventricle	heart
26	chr2:46479600-46480200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:46479600-46481200	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:46479600-46481200	Enhancers	Spleen	Spleen
29	chr2:46479600-46481800	Enhancers	Liver	Liver
30	chr2:46479600-46486000	Weak transcription	Psoas Muscle	Psoas
31	chr2:46479800-46480200	Enhancers	Gastric	stomach
32	chr2:46479800-46480600	Enhancers	HSMMtube	muscle
33	chr2:46479800-46480800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:46479800-46480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:46480000-46480600	Enhancers	Esophagus	oesophagus
36	chr2:46480000-46480600	Enhancers	HUVEC	blood vessel
37	chr2:46480000-46484800	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links