Variant report

Variant	rs11956800
Chromosome Location	chr5:112630461-112630462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11948187	1.00[EUR][1000 genomes]
rs11948413	1.00[EUR][1000 genomes]
rs11948437	1.00[EUR][1000 genomes]
rs11948446	1.00[EUR][1000 genomes]
rs11948538	1.00[EUR][1000 genomes]
rs11948830	1.00[EUR][1000 genomes]
rs11949387	1.00[EUR][1000 genomes]
rs11949669	1.00[EUR][1000 genomes]
rs11950791	1.00[EUR][1000 genomes]
rs11953559	1.00[EUR][1000 genomes]
rs11954798	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11955591	1.00[EUR][1000 genomes]
rs11956234	1.00[EUR][1000 genomes]
rs11959532	1.00[EUR][1000 genomes]
rs11959955	1.00[EUR][1000 genomes]
rs34086862	0.83[AFR][1000 genomes]
rs61341835	1.00[EUR][1000 genomes]
rs7731164	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112626800-112631400	Active TSS	Ovary	ovary
2	chr5:112627200-112631200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:112627400-112631000	Active TSS	Psoas Muscle	Psoas
4	chr5:112628200-112630800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:112628200-112630800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr5:112628200-112631000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:112628200-112631000	Active TSS	Brain Hippocampus Middle	brain
8	chr5:112628200-112631000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr5:112628200-112631000	Active TSS	Brain Substantia Nigra	brain
10	chr5:112628200-112631000	Active TSS	Right Atrium	heart
11	chr5:112628200-112631000	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:112628200-112631200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:112628200-112631200	Active TSS	NHDF-Ad	bronchial
14	chr5:112628400-112631000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:112628400-112631000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:112628400-112631000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:112628400-112631200	Active TSS	Fetal Muscle Trunk	muscle
18	chr5:112628400-112631200	Active TSS	Left Ventricle	heart
19	chr5:112628600-112630600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:112628600-112630600	Active TSS	Lung	lung
21	chr5:112628600-112630800	Active TSS	Brain Angular Gyrus	brain
22	chr5:112628600-112630800	Active TSS	Esophagus	oesophagus
23	chr5:112628600-112630800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
24	chr5:112628600-112631000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr5:112628600-112631000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:112628600-112631000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:112628600-112631200	Active TSS	Rectal Smooth Muscle	rectum
28	chr5:112628600-112631400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr5:112628800-112631000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:112628800-112631200	Active TSS	Gastric	stomach
31	chr5:112629000-112630600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:112629000-112630800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
33	chr5:112629000-112630800	Active TSS	NHEK	skin
34	chr5:112629000-112631000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr5:112629000-112631000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:112629000-112631000	Active TSS	Fetal Stomach	stomach
37	chr5:112629000-112631200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:112629000-112631200	Active TSS	Colon Smooth Muscle	Colon
39	chr5:112629000-112631400	Bivalent/Poised TSS	Thymus	Thymus
40	chr5:112629200-112630600	Active TSS	Small Intestine	intestine
41	chr5:112629200-112630800	Active TSS	Liver	Liver
42	chr5:112629200-112630800	Bivalent/Poised TSS	Stomach Mucosa	stomach
43	chr5:112629200-112630800	Active TSS	HMEC	breast
44	chr5:112629200-112631000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:112629200-112631000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:112629200-112631000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:112629200-112631000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:112629200-112631000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:112629200-112631000	Active TSS	Fetal Heart	heart
50	chr5:112629200-112631200	Active TSS	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links