Variant report

Variant	rs72815264
Chromosome Location	chr5:114787125-114787126
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	chr5:114785383..114787402-chr5:114806966..114809373,2	MCF-7	breast:
2	chr5:114749201..114751602-chr5:114786972..114789566,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13162494	1.00[ASN][1000 genomes]
rs13178564	1.00[ASN][1000 genomes]
rs17472591	1.00[ASN][1000 genomes]
rs72817114	1.00[AFR][1000 genomes]
rs72817122	1.00[AFR][1000 genomes]
rs72817124	1.00[AFR][1000 genomes]
rs72817130	1.00[AFR][1000 genomes]
rs72817141	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114777200-114790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114785400-114788000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:114785400-114790400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:114785400-114794600	Enhancers	Fetal Intestine Small	intestine
5	chr5:114785600-114796200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:114785800-114787400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:114786000-114787200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:114786000-114787200	Enhancers	Liver	Liver
9	chr5:114786000-114787200	Enhancers	Fetal Stomach	stomach
10	chr5:114786000-114787400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:114786000-114787400	Enhancers	NH-A	brain
12	chr5:114786000-114787400	Enhancers	NHLF	lung
13	chr5:114786000-114787600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:114786000-114787800	Enhancers	Fetal Muscle Leg	muscle
15	chr5:114786000-114787800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr5:114786000-114788400	Enhancers	Stomach Mucosa	stomach
17	chr5:114786000-114789200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:114786000-114789400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:114786000-114789400	Enhancers	Pancreas	Pancrea
20	chr5:114786000-114789400	Enhancers	NHDF-Ad	bronchial
21	chr5:114786000-114790400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:114786000-114794000	Enhancers	Duodenum Mucosa	Duodenum
23	chr5:114786000-114794400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:114786000-114795800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:114786000-114796200	Enhancers	Fetal Intestine Large	intestine
26	chr5:114786200-114787200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:114786200-114787400	Weak transcription	Gastric	stomach
28	chr5:114786400-114787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:114786400-114791400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr5:114786400-114795600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:114786600-114787200	Weak transcription	Lung	lung
32	chr5:114786600-114788600	Weak transcription	Placenta	Placenta
33	chr5:114786600-114789800	Enhancers	Osteobl	bone
34	chr5:114786600-114790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:114786600-114790400	Weak transcription	Brain Anterior Caudate	brain
36	chr5:114786600-114790400	Weak transcription	Brain Substantia Nigra	brain
37	chr5:114786600-114790600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:114786600-114791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:114786600-114793400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:114786600-114795200	Weak transcription	HSMMtube	muscle
41	chr5:114786800-114788400	Weak transcription	Small Intestine	intestine
42	chr5:114786800-114789400	Enhancers	Colonic Mucosa	Colon
43	chr5:114786800-114790400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:114786800-114791000	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:114786800-114791000	Weak transcription	Hela-S3	cervix
46	chr5:114786800-114792600	Weak transcription	GM12878-XiMat	blood
47	chr5:114786800-114793600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:114786800-114794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:114786800-114794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:114786800-114796000	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links