Variant report

Variant	rs11226613
Chromosome Location	chr11:104972518-104972519
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:104972474-104972524	A549	lung:	n/a
2	chr11:104972474-104972524	HEK293	kidney:	embryo
3	chr11:104972474-104972524	HIPEpiC	eye:	n/a
4	chr11:104972474-104972524	AG10803	skin:	n/a
5	chr11:104972474-104972524	SK-N-SH_RA	brain:	n/a
6	chr11:104972474-104972524	HCM	heart:	n/a
7	chr11:104972474-104972524	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:104972474-104972524	HMEC	breast:	n/a
9	chr11:104972474-104972524	GM06990	blood:	n/a
10	chr11:104972474-104972524	T-47D	breast:	n/a
11	chr11:104972474-104972524	PFSK-1	brain:	n/a
12	chr11:104972474-104972524	HL-60	blood:	n/a
13	chr11:104972474-104972524	Caco-2	colon:	n/a
14	chr11:104972474-104972524	BJ	skin:	n/a
15	chr11:104972474-104972524	H1-hESC	embryonic stem cell:	embryo
16	chr11:104972474-104972524	HNPCEpiC	eye:	n/a
17	chr11:104972474-104972524	HCT-116	colon:	n/a
18	chr11:104972474-104972524	AG04449	skin:	fetal
19	chr11:104972474-104972524	HUVEC	blood vessel:	n/a
20	chr11:104972474-104972524	PANC-1	pancreas:	n/a
21	chr11:104972474-104972524	PrEC	prostate:	n/a
22	chr11:104972474-104972524	HRCEpiC	kidney:	n/a
23	chr11:104972474-104972524	LNCaP	prostate:	n/a
24	chr11:104972474-104972524	Jurkat	blood:	n/a
25	chr11:104972474-104972524	AG09319	gingival:	n/a
26	chr11:104972474-104972524	GM12878	blood:	n/a
27	chr11:104972474-104972524	HepG2	liver:	n/a
28	chr11:104972474-104972524	ovcar-3	ovarian:	n/a
29	chr11:104972474-104972524	HEEpiC	esophagus:	n/a
30	chr11:104972474-104972524	SK-N-MC	brain:	n/a
31	chr11:104972474-104972524	GM19239	blood:	n/a
32	chr11:104972474-104972524	SKMC	muscle:	n/a
33	chr11:104972474-104972524	HCPEpiC	choroid plexus:	n/a
34	chr11:104972474-104972524	NT2-D1	testis:	n/a
35	chr11:104972474-104972524	ProgFib	skin:	n/a
36	chr11:104972474-104972524	AG04450	lung:	fetal
37	chr11:104972474-104972524	GM12892	blood:	n/a
38	chr11:104972474-104972524	Hepatocyte	liver:	n/a
39	chr11:104972474-104972524	ECC-1	luminal epithelium:	n/a
40	chr11:104972474-104972524	NH-A	brain:	n/a
41	chr11:104972474-104972524	MCF-7	breast:	n/a
42	chr11:104972474-104972524	HRE	kidney:	n/a
43	chr11:104972474-104972524	SK-N-SH	brain:	n/a
44	chr11:104972474-104972524	HRPEpiC	eye:	n/a
45	chr11:104972474-104972524	HAEpiC	amniotic membrane:	n/a
46	chr11:104972474-104972524	IMR90	lung:	fetal
47	chr11:104972474-104972524	HCF	heart:	n/a
48	chr11:104972474-104972524	NHBE	bronchial:	n/a
49	chr11:104972474-104972524	NB4	blood:	n/a
50	chr11:104972474-104972524	GM12891	blood:	n/a

No data

Variant related genes	Relation type
CARD17	CpG island
CARD16	CpG island
CASP1	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11226621	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6591113	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv1040275	chr11:104939029-104988325	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
13	nsv8871	chr11:104941750-104973508	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
14	nsv1054109	chr11:104948117-104976058	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	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
16	nsv1049355	chr11:104950412-104972518	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
17	nsv442241	chr11:104950424-104972558	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
18	esv2762941	chr11:104952282-104972558	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
19	nsv524985	chr11:104960997-104991640	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
20	esv3425474	chr11:104962498-104978307	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bronchopulmonary dysplasia	23897914	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11226613	ARHGAP42	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104970000-104974200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:104970400-104972600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:104972200-104972600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:104972200-104972600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:104972200-104980600	Weak transcription	Adipose Nuclei	Adipose
6	chr11:104972400-104973000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:104972400-104975000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:104972400-104977000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:104972400-104977600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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