Variant report

Variant	rs12295181
Chromosome Location	chr11:5291736-5291737
allele	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:3)
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	chr11:5291692-5291742	T-47D	breast:	n/a
2	chr11:5291692-5291742	SKMC	muscle:	n/a
3	chr11:5291692-5291742	PFSK-1	brain:	n/a
4	chr11:5291692-5291742	K562	blood:	n/a
5	chr11:5291692-5291742	ovcar-3	ovarian:	n/a
6	chr11:5291692-5291742	NT2-D1	testis:	n/a
7	chr11:5291692-5291742	AG09309	skin:	n/a
8	chr11:5291692-5291742	AG10803	skin:	n/a
9	chr11:5291692-5291742	NHBE	bronchial:	n/a
10	chr11:5291692-5291742	HUVEC	blood vessel:	n/a
11	chr11:5291692-5291742	SK-N-SH	brain:	n/a
12	chr11:5291692-5291742	NB4	blood:	n/a
13	chr11:5291692-5291742	BE2_C	brain:	n/a
14	chr11:5291692-5291742	Jurkat	blood:	n/a
15	chr11:5291692-5291742	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:5291692-5291742	HNPCEpiC	eye:	n/a
17	chr11:5291692-5291742	Caco-2	colon:	n/a
18	chr11:5291692-5291742	HRPEpiC	eye:	n/a
19	chr11:5291692-5291742	PANC-1	pancreas:	n/a
20	chr11:5291692-5291742	ProgFib	skin:	n/a
21	chr11:5291692-5291742	MCF10A-Er-Src	breast:	n/a
22	chr11:5291692-5291742	H1-hESC	embryonic stem cell:	embryo
23	chr11:5291692-5291742	HRE	kidney:	n/a
24	chr11:5291692-5291742	GM12878	blood:	n/a
25	chr11:5291692-5291742	BJ	skin:	n/a
26	chr11:5291692-5291742	HRCEpiC	kidney:	n/a
27	chr11:5291692-5291742	HCT-116	colon:	n/a
28	chr11:5291692-5291742	NHDF-neo	bronchial:	n/a
29	chr11:5291692-5291742	Hela-S3	cervix:	n/a
30	chr11:5291692-5291742	HEEpiC	esophagus:	n/a
31	chr11:5291692-5291742	SK-N-MC	brain:	n/a
32	chr11:5291692-5291742	U87	brain:	n/a
33	chr11:5291692-5291742	IMR90	lung:	fetal
34	chr11:5291692-5291742	HL-60	blood:	n/a
35	chr11:5291692-5291742	GM12891	blood:	n/a
36	chr11:5291692-5291742	HIPEpiC	eye:	n/a
37	chr11:5291692-5291742	HCM	heart:	n/a
38	chr11:5291692-5291742	NH-A	brain:	n/a
39	chr11:5291692-5291742	HepG2	liver:	n/a
40	chr11:5291692-5291742	GM12892	blood:	n/a
41	chr11:5291692-5291742	GM06990	blood:	n/a
42	chr11:5291692-5291742	SK-N-SH_RA	brain:	n/a
43	chr11:5291692-5291742	SAEC	small airway:	n/a
44	chr11:5291692-5291742	HEK293	kidney:	embryo
45	chr11:5291692-5291742	AG09319	gingival:	n/a
46	chr11:5291692-5291742	AoSMC	blood vessel:	n/a
47	chr11:5291692-5291742	PrEC	prostate:	n/a
48	chr11:5291692-5291742	Hepatocyte	liver:	n/a
49	chr11:5291692-5291742	GM19239	blood:	n/a
50	chr11:5291692-5291742	HCPEpiC	choroid plexus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5274899..5283703-chr11:5287409..5292802,11	K562	blood:
2	chr11:5260030..5265620-chr11:5286872..5292555,7	K562	blood:
3	chr11:5273135..5283072-chr11:5287409..5292550,13	K562	blood:

No data

Variant related genes	Relation type
HBE1	CpG island
ENSG00000196565	Chromatin interaction
ENSG00000229988	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11036506	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042613	chr11:5173410-5336839	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1052750	chr11:5187571-5338802	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1038871	chr11:5192334-5301415	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv540942	chr11:5192334-5301415	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1048355	chr11:5192334-5336839	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1050550	chr11:5228195-5320334	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1037760	chr11:5228195-5338802	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv1054068	chr11:5228264-5336839	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5291600-5292200	Flanking Active TSS	K562	blood

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