Variant report

Variant	rs11748087
Chromosome Location	chr5:40831927-40831928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40795414..40800612-chr5:40826901..40832318,11	MCF-7	breast:
2	chr3:150320750..150321428-chr5:40831676..40832319,2	Hela-S3	cervix:
3	chr5:40752902..40758440-chr5:40826185..40833524,16	K562	blood:
4	chr5:40796430..40799942-chr5:40831748..40836996,14	MCF-7	breast:
5	chr5:40765162..40773094-chr5:40824590..40832435,13	K562	blood:
6	chr5:40752681..40758776-chr5:40831589..40836413,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113638	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000198843	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10064650	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1070444	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11743132	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11743196	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11746535	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748743	1.00[ASN][1000 genomes]
rs11749955	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12186450	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357568	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357569	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357570	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357571	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62357600	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704034	0.80[AMR][1000 genomes];0.97[EUR][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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases
3	nsv518711	chr5:40827307-40835627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	137 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11748087	CARD6	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40823600-40833200	Strong transcription	Thymus	Thymus
2	chr5:40824200-40833000	Weak transcription	Fetal Heart	heart
3	chr5:40824200-40833000	Weak transcription	Psoas Muscle	Psoas
4	chr5:40824800-40833000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:40824800-40833200	Strong transcription	Fetal Thymus	thymus
6	chr5:40824800-40833600	Strong transcription	Brain Germinal Matrix	brain
7	chr5:40825000-40832600	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:40825000-40832800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:40825200-40832200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:40825200-40832200	Strong transcription	Liver	Liver
11	chr5:40825200-40832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:40825200-40833200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:40825200-40833400	Strong transcription	Brain Anterior Caudate	brain
14	chr5:40825400-40832000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:40825400-40833800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:40825600-40832000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:40825600-40832000	Strong transcription	Osteobl	bone
18	chr5:40825600-40832200	Strong transcription	HSMM	muscle
19	chr5:40825600-40832600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:40825600-40832600	Strong transcription	Fetal Stomach	stomach
21	chr5:40825600-40832600	Strong transcription	Spleen	Spleen
22	chr5:40825600-40832800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:40825600-40833000	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr5:40825600-40833200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:40825600-40833200	Strong transcription	Fetal Muscle Leg	muscle
26	chr5:40825600-40833200	Strong transcription	Left Ventricle	heart
27	chr5:40825600-40833400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:40825600-40833400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:40825800-40833200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr5:40826000-40832200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr5:40826000-40833200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:40826000-40833200	Strong transcription	Fetal Brain Female	brain
33	chr5:40826000-40833400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr5:40826000-40833400	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr5:40826200-40832000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:40826200-40832200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:40826200-40833000	Strong transcription	Adipose Nuclei	Adipose
38	chr5:40826400-40832000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:40826400-40832000	Strong transcription	NHDF-Ad	bronchial
40	chr5:40826400-40832600	Strong transcription	Small Intestine	intestine
41	chr5:40826400-40832800	Strong transcription	Pancreas	Pancrea
42	chr5:40826400-40833000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:40826400-40833200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:40826400-40833400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr5:40826600-40832000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:40826600-40832000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:40826600-40832000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:40826600-40832400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:40826600-40832400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:40826600-40832600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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