Variant report

Variant	rs4945346
Chromosome Location	chr11:71623492-71623493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4269951	0.96[AFR][1000 genomes]
rs538569	0.81[AFR][1000 genomes]
rs542097	0.83[AFR][1000 genomes]
rs9735988	0.86[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4945346	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71586800-71624000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr11:71587400-71627400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:71587600-71624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:71588600-71624800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:71591400-71638200	Weak transcription	Right Ventricle	heart
6	chr11:71598400-71625000	Weak transcription	Brain Anterior Caudate	brain
7	chr11:71599600-71624000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:71600000-71635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:71600200-71624000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:71600200-71625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:71601000-71626600	Weak transcription	Pancreas	Pancrea
12	chr11:71604800-71624200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:71604800-71626600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:71605200-71624800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:71606000-71626800	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:71606400-71624800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:71606600-71638200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:71611400-71625000	Weak transcription	A549	lung
19	chr11:71612000-71624800	Weak transcription	Liver	Liver
20	chr11:71612200-71624200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:71612200-71625800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:71612600-71624200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:71612600-71624800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:71612800-71624800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:71612800-71626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:71612800-71626800	Weak transcription	HSMMtube	muscle
27	chr11:71612800-71639000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:71613000-71624200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:71613000-71624800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:71613000-71625600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:71613000-71626600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:71613000-71626600	Weak transcription	Osteobl	bone
33	chr11:71613400-71623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:71613400-71624800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:71613400-71627000	Weak transcription	Esophagus	oesophagus
36	chr11:71613800-71624000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:71613800-71626800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:71614400-71638200	Weak transcription	Fetal Brain Male	brain
39	chr11:71614600-71626000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:71614600-71638000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:71614800-71626600	Weak transcription	K562	blood
42	chr11:71615000-71624000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:71615000-71625000	Weak transcription	Brain Germinal Matrix	brain
44	chr11:71615200-71638600	Weak transcription	HUVEC	blood vessel
45	chr11:71615400-71626600	Weak transcription	Brain Substantia Nigra	brain
46	chr11:71616000-71624000	Weak transcription	Fetal Thymus	thymus
47	chr11:71616800-71624000	Weak transcription	Colonic Mucosa	Colon
48	chr11:71616800-71626800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:71616800-71626800	Weak transcription	Psoas Muscle	Psoas
50	chr11:71616800-71626800	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links