Variant report

Variant	rs250252
Chromosome Location	chr5:106855830-106855831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13178589	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs152554	1.00[ASN][1000 genomes]
rs153189	1.00[CHB][hapmap]
rs250250	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884705	1.00[ASW][hapmap]
rs848828	0.90[ASN][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	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106842400-106880000	Weak transcription	Gastric	stomach
2	chr5:106848800-106865000	Weak transcription	Right Atrium	heart
3	chr5:106849000-106859200	Weak transcription	Esophagus	oesophagus
4	chr5:106849200-106859000	Weak transcription	Left Ventricle	heart
5	chr5:106850400-106859000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:106852000-106858200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:106852000-106859000	Weak transcription	Pancreas	Pancrea
8	chr5:106852600-106856600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:106852800-106856400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:106852800-106856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:106852800-106857400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:106852800-106860200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:106853000-106856600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:106853200-106856200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:106853200-106856400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:106853200-106856600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:106853200-106856600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:106854000-106856000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:106854000-106856000	Enhancers	Dnd41	blood
20	chr5:106854400-106856400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:106854400-106856400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:106854400-106856600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:106854800-106856600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:106854800-106856800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:106855000-106856600	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:106855000-106856800	Enhancers	Fetal Heart	heart
27	chr5:106855200-106856000	Enhancers	Fetal Kidney	kidney
28	chr5:106855200-106856000	Enhancers	Fetal Thymus	thymus
29	chr5:106855200-106856000	Enhancers	HMEC	breast
30	chr5:106855200-106857200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:106855400-106856000	Enhancers	Stomach Mucosa	stomach
32	chr5:106855400-106856200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:106855600-106856000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:106855600-106856000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:106855600-106856000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:106855600-106856000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:106855600-106856000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:106855600-106856000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:106855600-106856000	Enhancers	Brain Anterior Caudate	brain
40	chr5:106855600-106856000	Enhancers	Fetal Intestine Large	intestine
41	chr5:106855600-106856000	Flanking Active TSS	Fetal Lung	lung
42	chr5:106855600-106856000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr5:106855600-106856000	Enhancers	Right Ventricle	heart
44	chr5:106855600-106856000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:106855600-106856000	Enhancers	HSMM	muscle
46	chr5:106855600-106856200	Enhancers	Colon Smooth Muscle	Colon
47	chr5:106855600-106856200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:106855600-106856200	Flanking Active TSS	A549	lung
49	chr5:106855600-106856200	Enhancers	NHEK	skin
50	chr5:106855600-106856400	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links