Variant report

Variant	rs58468466
Chromosome Location	chr11:104769412-104769413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:104768969-104769709	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:104768852-104769625	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:104769411-104769461	HCPEpiC	choroid plexus:	n/a
2	chr11:104769411-104769461	ECC-1	luminal epithelium:	n/a
3	chr11:104769411-104769461	GM19239	blood:	n/a
4	chr11:104769411-104769461	NT2-D1	testis:	n/a
5	chr11:104769411-104769461	GM12878	blood:	n/a
6	chr11:104769411-104769461	BE2_C	brain:	n/a
7	chr11:104769411-104769461	AG04450	lung:	fetal
8	chr11:104769411-104769461	AG04449	skin:	fetal
9	chr11:104769411-104769461	Hela-S3	cervix:	n/a
10	chr11:104769411-104769461	GM12891	blood:	n/a
11	chr11:104769411-104769461	ovcar-3	ovarian:	n/a
12	chr11:104769411-104769461	HEEpiC	esophagus:	n/a
13	chr11:104769411-104769461	SAEC	small airway:	n/a
14	chr11:104769411-104769461	SK-N-SH_RA	brain:	n/a
15	chr11:104769411-104769461	AG10803	skin:	n/a
16	chr11:104769411-104769461	SK-N-MC	brain:	n/a
17	chr11:104769411-104769461	ProgFib	skin:	n/a
18	chr11:104769411-104769461	BJ	skin:	n/a
19	chr11:104769411-104769461	AG09319	gingival:	n/a
20	chr11:104769411-104769461	GM06990	blood:	n/a
21	chr11:104769411-104769461	Caco-2	colon:	n/a
22	chr11:104769411-104769461	MCF-7	breast:	n/a
23	chr11:104769411-104769461	AoSMC	blood vessel:	n/a
24	chr11:104769411-104769461	T-47D	breast:	n/a
25	chr11:104769411-104769461	HCF	heart:	n/a
26	chr11:104769411-104769461	SKMC	muscle:	n/a
27	chr11:104769411-104769461	HMEC	breast:	n/a
28	chr11:104769411-104769461	PANC-1	pancreas:	n/a
29	chr11:104769411-104769461	HEK293	kidney:	embryo
30	chr11:104769411-104769461	GM12892	blood:	n/a
31	chr11:104769411-104769461	AG09309	skin:	n/a
32	chr11:104769411-104769461	HRPEpiC	eye:	n/a
33	chr11:104769411-104769461	Hepatocyte	liver:	n/a
34	chr11:104769411-104769461	HUVEC	blood vessel:	n/a
35	chr11:104769411-104769461	PrEC	prostate:	n/a
36	chr11:104769411-104769461	HRCEpiC	kidney:	n/a
37	chr11:104769411-104769461	HCT-116	colon:	n/a
38	chr11:104769411-104769461	PFSK-1	brain:	n/a
39	chr11:104769411-104769461	RPTEC	kidney:	n/a
40	chr11:104769411-104769461	H1-hESC	embryonic stem cell:	embryo
41	chr11:104769411-104769461	HCM	heart:	n/a
42	chr11:104769411-104769461	NHDF-neo	bronchial:	n/a
43	chr11:104769411-104769461	IMR90	lung:	fetal
44	chr11:104769411-104769461	HNPCEpiC	eye:	n/a
45	chr11:104769411-104769461	HRE	kidney:	n/a
46	chr11:104769411-104769461	NH-A	brain:	n/a
47	chr11:104769411-104769461	CMK	blood:	n/a
48	chr11:104769411-104769461	HIPEpiC	eye:	n/a
49	chr11:104769411-104769461	U87	brain:	n/a
50	chr11:104769411-104769461	NB4	blood:	n/a

No data

Variant related genes	Relation type
CASP12	TF binding region
CASP12	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs73627758	1.00[AMR][1000 genomes]
rs73627759	1.00[AMR][1000 genomes]
rs73627774	1.00[AMR][1000 genomes]
rs73627780	1.00[AMR][1000 genomes]
rs73627782	1.00[AMR][1000 genomes]
rs73629613	1.00[AMR][1000 genomes]
rs73629620	1.00[AMR][1000 genomes]
rs73629626	1.00[AMR][1000 genomes]
rs73629627	1.00[AMR][1000 genomes]
rs73629633	0.82[AFR][1000 genomes]
rs73629635	0.82[AFR][1000 genomes]
rs73629640	0.82[AFR][1000 genomes]
rs73629643	0.82[AFR][1000 genomes]
rs73629656	1.00[AFR][1000 genomes]
rs73629667	0.84[AFR][1000 genomes]
rs73629673	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv1040536	chr11:104757419-104781022	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	esv20820	chr11:104757749-104781659	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv556217	chr11:104758035-104781313	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104765600-104769800	Active TSS	Aorta	Aorta
2	chr11:104767800-104769600	Active TSS	Ovary	ovary
3	chr11:104768200-104769600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr11:104768200-104769600	Active TSS	Stomach Smooth Muscle	stomach
5	chr11:104768200-104769800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:104768400-104769600	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:104768400-104769600	Active TSS	Right Atrium	heart
8	chr11:104768400-104770400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:104768600-104770200	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:104768800-104769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:104768800-104770400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:104769000-104769600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:104769000-104770200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:104769000-104772000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:104769200-104769600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:104769200-104769600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:104769200-104769600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:104769200-104769600	Enhancers	Fetal Stomach	stomach
19	chr11:104769200-104770000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:104769200-104770200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:104769200-104770200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:104769200-104770200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:104769200-104770200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr11:104769200-104777600	Weak transcription	Pancreas	Pancrea
25	chr11:104769200-104778200	Weak transcription	Left Ventricle	heart
26	chr11:104769200-104778800	Weak transcription	NHLF	lung
27	chr11:104769200-104786400	Weak transcription	Lung	lung
28	chr11:104769200-104786600	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:104769200-104787800	Weak transcription	Fetal Lung	lung
30	chr11:104769400-104769600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:104769400-104769600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:104769400-104769600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:104769400-104769600	Enhancers	Adipose Nuclei	Adipose
34	chr11:104769400-104769600	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:104769400-104769600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:104769400-104769600	Enhancers	NHDF-Ad	bronchial
37	chr11:104769400-104769800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:104769400-104769800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:104769400-104770200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:104769400-104770200	Enhancers	GM12878-XiMat	blood
41	chr11:104769400-104770400	Enhancers	HUVEC	blood vessel
42	chr11:104769400-104785400	Weak transcription	Psoas Muscle	Psoas
43	chr11:104769400-104786800	Weak transcription	Duodenum Mucosa	Duodenum

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