Variant report

Variant	rs11217375
Chromosome Location	chr11:119524282-119524283
allele	A/C/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	chr11:119524243-119524293	H1-hESC	embryonic stem cell:	embryo
2	chr11:119524243-119524293	HUVEC	blood vessel:	n/a
3	chr11:119524243-119524293	HCM	heart:	n/a
4	chr11:119524243-119524293	Caco-2	colon:	n/a
5	chr11:119524243-119524293	HCPEpiC	choroid plexus:	n/a
6	chr11:119524243-119524293	ProgFib	skin:	n/a
7	chr11:119524243-119524293	HEK293	kidney:	embryo
8	chr11:119524243-119524293	GM12878	blood:	n/a
9	chr11:119524243-119524293	NB4	blood:	n/a
10	chr11:119524243-119524293	T-47D	breast:	n/a
11	chr11:119524243-119524293	A549	lung:	n/a
12	chr11:119524243-119524293	AG04449	skin:	fetal
13	chr11:119524243-119524293	HepG2	liver:	n/a
14	chr11:119524243-119524293	SAEC	small airway:	n/a
15	chr11:119524243-119524293	K562	blood:	n/a
16	chr11:119524243-119524293	HIPEpiC	eye:	n/a
17	chr11:119524243-119524293	NT2-D1	testis:	n/a
18	chr11:119524243-119524293	Hepatocyte	liver:	n/a
19	chr11:119524243-119524293	HMEC	breast:	n/a
20	chr11:119524243-119524293	HRCEpiC	kidney:	n/a
21	chr11:119524243-119524293	ovcar-3	ovarian:	n/a
22	chr11:119524243-119524293	HEEpiC	esophagus:	n/a
23	chr11:119524243-119524293	PrEC	prostate:	n/a
24	chr11:119524243-119524293	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:119524243-119524293	IMR90	lung:	fetal
26	chr11:119524243-119524293	SK-N-SH	brain:	n/a
27	chr11:119524243-119524293	AG09319	gingival:	n/a
28	chr11:119524243-119524293	Jurkat	blood:	n/a
29	chr11:119524243-119524293	SK-N-MC	brain:	n/a
30	chr11:119524243-119524293	SK-N-SH_RA	brain:	n/a
31	chr11:119524243-119524293	AG10803	skin:	n/a
32	chr11:119524243-119524293	CMK	blood:	n/a
33	chr11:119524243-119524293	PFSK-1	brain:	n/a
34	chr11:119524243-119524293	ECC-1	luminal epithelium:	n/a
35	chr11:119524243-119524293	U87	brain:	n/a
36	chr11:119524243-119524293	MCF-7	breast:	n/a
37	chr11:119524243-119524293	HCT-116	colon:	n/a
38	chr11:119524243-119524293	BJ	skin:	n/a
39	chr11:119524243-119524293	HRE	kidney:	n/a
40	chr11:119524243-119524293	HAEpiC	amniotic membrane:	n/a
41	chr11:119524243-119524293	GM12892	blood:	n/a
42	chr11:119524243-119524293	SKMC	muscle:	n/a
43	chr11:119524243-119524293	GM12891	blood:	n/a
44	chr11:119524243-119524293	HL-60	blood:	n/a
45	chr11:119524243-119524293	GM19239	blood:	n/a
46	chr11:119524243-119524293	HRPEpiC	eye:	n/a
47	chr11:119524243-119524293	AoSMC	blood vessel:	n/a
48	chr11:119524243-119524293	Hela-S3	cervix:	n/a
49	chr11:119524243-119524293	AG04450	lung:	fetal
50	chr11:119524243-119524293	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
RNU6-1123P	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11217336	1.00[AFR][1000 genomes]
rs11217337	1.00[AFR][1000 genomes]
rs11217339	1.00[AFR][1000 genomes]
rs11217341	1.00[AFR][1000 genomes]
rs11217351	1.00[AFR][1000 genomes]
rs11217352	1.00[AFR][1000 genomes]
rs11217359	1.00[AFR][1000 genomes]
rs11217363	1.00[AFR][1000 genomes]
rs11217367	1.00[AFR][1000 genomes]
rs12222551	1.00[AFR][1000 genomes]
rs12223899	1.00[AFR][1000 genomes]
rs12225444	1.00[AFR][1000 genomes]
rs12574200	1.00[AFR][1000 genomes]
rs12575396	1.00[AFR][1000 genomes]
rs59612995	0.81[ASN][1000 genomes]
rs59681945	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs60405761	0.81[ASN][1000 genomes]
rs9651690	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042460	chr11:119430954-119540452	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv898420	chr11:119488646-119541332	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119522800-119532400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:119523000-119529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:119523000-119532000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:119523200-119531200	Weak transcription	Pancreas	Pancrea
5	chr11:119523200-119534200	Weak transcription	Spleen	Spleen
6	chr11:119523200-119541800	Weak transcription	Left Ventricle	heart
7	chr11:119523600-119528600	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:119523600-119536200	Weak transcription	H9 Cell Line	embryonic stem cell

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