Variant report

Variant	rs11951920
Chromosome Location	chr5:126674322-126674323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126672674..126675418-chr5:126679915..126681787,2	K562	blood:
2	chr5:126673266..126674884-chr5:126706701..126708447,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34618477	0.85[AFR][1000 genomes]
rs55900385	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56217196	0.83[AFR][1000 genomes]
rs57261222	1.00[ASN][1000 genomes]
rs58043513	1.00[ASN][1000 genomes]
rs73344982	0.85[AFR][1000 genomes]
rs7723222	0.81[ASN][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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
3	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126648000-126674800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
3	chr5:126666200-126679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:126668000-126687200	Weak transcription	HSMM	muscle
6	chr5:126669200-126674800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:126669400-126675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:126671000-126674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:126672400-126675200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:126672600-126675600	Enhancers	Brain Angular Gyrus	brain
11	chr5:126672600-126675800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:126672800-126674400	Enhancers	Brain Substantia Nigra	brain
13	chr5:126672800-126674600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:126672800-126675000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:126672800-126675000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:126672800-126675800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:126673000-126675800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:126673200-126674600	Enhancers	Brain Anterior Caudate	brain
19	chr5:126673200-126675000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr5:126673400-126674400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:126673400-126674600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:126673400-126675600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:126673600-126674400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:126673600-126674600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:126673600-126674800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:126673800-126674400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:126673800-126674400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:126673800-126674600	Enhancers	Brain Germinal Matrix	brain
29	chr5:126673800-126674800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:126673800-126674800	Weak transcription	HSMMtube	muscle
31	chr5:126673800-126681800	Weak transcription	Fetal Brain Female	brain
32	chr5:126674000-126675400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:126674200-126678000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:126674200-126678200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:126674200-126688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links