Variant report

Variant	rs72893106
Chromosome Location	chr2:64245656-64245657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64245248..64247097-chr2:64369855..64371570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225889	Chromatin interaction
ENSG00000197329	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72891005	1.00[AMR][1000 genomes]
rs72891027	1.00[AMR][1000 genomes]
rs72891067	1.00[AMR][1000 genomes]
rs72891091	1.00[AMR][1000 genomes]
rs72893115	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64243000-64246800	Active TSS	GM12878-XiMat	blood
2	chr2:64244000-64246800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:64244400-64246600	Active TSS	Muscle Satellite Cultured Cells	--
4	chr2:64244400-64246600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:64244600-64246400	Active TSS	HMEC	breast
6	chr2:64244600-64246600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:64244600-64246600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:64244600-64246800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:64244600-64246800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:64244600-64246800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:64244600-64246800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:64244600-64246800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:64244600-64246800	Active TSS	Fetal Kidney	kidney
14	chr2:64244600-64246800	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:64244600-64246800	Active TSS	HSMMtube	muscle
16	chr2:64244600-64246800	Active TSS	K562	blood
17	chr2:64244600-64246800	Active TSS	NHDF-Ad	bronchial
18	chr2:64244600-64246800	Active TSS	NHEK	skin
19	chr2:64244600-64246800	Active TSS	NHLF	lung
20	chr2:64244600-64247000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:64244600-64247200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:64244600-64247400	Active TSS	Brain Angular Gyrus	brain
23	chr2:64244800-64245800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:64244800-64245800	Active TSS	Fetal Brain Male	brain
25	chr2:64244800-64246000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:64244800-64246000	Bivalent/Poised TSS	HepG2	liver
27	chr2:64244800-64246600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:64244800-64246600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:64244800-64246600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:64244800-64246800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:64244800-64246800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:64244800-64246800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:64244800-64246800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:64244800-64246800	Active TSS	Aorta	Aorta
35	chr2:64244800-64246800	Active TSS	Brain Germinal Matrix	brain
36	chr2:64244800-64246800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:64244800-64246800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr2:64244800-64246800	Active TSS	Fetal Brain Female	brain
39	chr2:64244800-64246800	Active TSS	Fetal Intestine Large	intestine
40	chr2:64244800-64246800	Active TSS	Fetal Intestine Small	intestine
41	chr2:64244800-64246800	Active TSS	Fetal Muscle Leg	muscle
42	chr2:64244800-64246800	Active TSS	Fetal Stomach	stomach
43	chr2:64244800-64246800	Active TSS	Left Ventricle	heart
44	chr2:64244800-64246800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr2:64244800-64246800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr2:64244800-64246800	Active TSS	HSMM	muscle
47	chr2:64244800-64247000	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:64244800-64247000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:64244800-64247000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:64244800-64247000	Active TSS	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links