Variant report

Variant	rs2062806
Chromosome Location	chr11:104980898-104980899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10895769	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895770	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1483025	0.92[ASN][1000 genomes]
rs1503399	0.95[ASN][1000 genomes]
rs1503400	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1623342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1628434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1699080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1699082	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1699083	0.88[ASN][1000 genomes]
rs1699084	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1699088	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1699095	0.89[ASN][1000 genomes]
rs1785864	0.91[ASN][1000 genomes]
rs1785872	0.93[ASN][1000 genomes]
rs1785873	0.96[ASN][1000 genomes]
rs1785878	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792752	0.91[EUR][1000 genomes]
rs1792757	0.92[ASN][1000 genomes]
rs1792764	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792765	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792766	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792770	0.96[ASN][1000 genomes]
rs1792771	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1792773	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1847293	0.96[ASN][1000 genomes]
rs2174158	0.99[ASN][1000 genomes]
rs2852987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736149	0.92[ASN][1000 genomes]
rs4534547	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4638280	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs472886	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs484345	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs489753	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs508337	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs529809	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs531589	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs562441	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs572717	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7932543	0.89[ASN][1000 genomes]
rs7934144	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1042388	chr11:104934347-104988325	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
9	esv2756562	chr11:104937371-104981568	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
10	nsv1040275	chr11:104939029-104988325	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
11	nsv949337	chr11:104950007-105510193	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv524985	chr11:104960997-104991640	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2062806	CARD17	cis	Esophagus Mucosa	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104972600-104981000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:104975000-104983400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:104979000-104982600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:104979400-104981600	Weak transcription	Placenta	Placenta
5	chr11:104980200-104981200	Enhancers	HMEC	breast
6	chr11:104980200-104981800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:104980200-104982200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:104980400-104981200	Enhancers	Brain Anterior Caudate	brain
9	chr11:104980400-104981200	Enhancers	Fetal Intestine Small	intestine
10	chr11:104980400-104981600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:104980600-104981000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:104980600-104981200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:104980600-104981800	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:104980600-104982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:104980800-104981000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:104980800-104981000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:104980800-104981200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:104980800-104981200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:104980800-104981200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:104980800-104981200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr11:104980800-104981200	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:104980800-104981200	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr11:104980800-104981200	Enhancers	Fetal Kidney	kidney
24	chr11:104980800-104981200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:104980800-104981200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:104980800-104981200	Flanking Active TSS	Hela-S3	cervix
27	chr11:104980800-104981200	Active TSS	NHDF-Ad	bronchial
28	chr11:104980800-104981200	Flanking Active TSS	NHEK	skin
29	chr11:104980800-104981400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr11:104980800-104981400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:104980800-104981400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:104980800-104981400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:104980800-104981400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:104980800-104981600	Flanking Active TSS	HUVEC	blood vessel
35	chr11:104980800-104981600	Active TSS	Osteobl	bone
36	chr11:104980800-104981800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:104980800-104981800	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links