Variant report

Variant	rs527788694
Chromosome Location	chr11:5442524-5442525
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5442420-5442570	A549	lung:	n/a	n/a
2	RAD21	chr11:5442223-5442532	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:5442258-5442603	HCT-116	colon:	n/a	n/a
4	RAD21	chr11:5442133-5442559	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5442511-5442561	H1-hESC	embryonic stem cell:	embryo
2	chr11:5442511-5442561	NT2-D1	testis:	n/a
3	chr11:5442511-5442561	GM06990	blood:	n/a
4	chr11:5442511-5442561	GM12878	blood:	n/a
5	chr11:5442511-5442561	HepG2	liver:	n/a
6	chr11:5442511-5442561	PANC-1	pancreas:	n/a
7	chr11:5442511-5442561	AG10803	skin:	n/a
8	chr11:5442511-5442561	IMR90	lung:	fetal
9	chr11:5442511-5442561	AG04450	lung:	fetal
10	chr11:5442511-5442561	Hepatocyte	liver:	n/a
11	chr11:5442511-5442561	SAEC	small airway:	n/a
12	chr11:5442511-5442561	SK-N-MC	brain:	n/a
13	chr11:5442511-5442561	Jurkat	blood:	n/a
14	chr11:5442511-5442561	Hela-S3	cervix:	n/a
15	chr11:5442511-5442561	MCF10A-Er-Src	breast:	n/a
16	chr11:5442511-5442561	GM19239	blood:	n/a
17	chr11:5442511-5442561	BJ	skin:	n/a
18	chr11:5442511-5442561	HNPCEpiC	eye:	n/a
19	chr11:5442511-5442561	HUVEC	blood vessel:	n/a
20	chr11:5442511-5442561	ECC-1	luminal epithelium:	n/a
21	chr11:5442511-5442561	SK-N-SH_RA	brain:	n/a
22	chr11:5442511-5442561	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:5442511-5442561	GM12891	blood:	n/a
24	chr11:5442511-5442561	HEK293	kidney:	embryo
25	chr11:5442511-5442561	RPTEC	kidney:	n/a
26	chr11:5442511-5442561	HAEpiC	amniotic membrane:	n/a
27	chr11:5442511-5442561	AG09309	skin:	n/a
28	chr11:5442511-5442561	AoSMC	blood vessel:	n/a
29	chr11:5442511-5442561	ProgFib	skin:	n/a
30	chr11:5442511-5442561	AG04449	skin:	fetal
31	chr11:5442511-5442561	HRE	kidney:	n/a
32	chr11:5442511-5442561	Caco-2	colon:	n/a
33	chr11:5442511-5442561	NB4	blood:	n/a
34	chr11:5442511-5442561	NHBE	bronchial:	n/a
35	chr11:5442511-5442561	NH-A	brain:	n/a
36	chr11:5442511-5442561	BE2_C	brain:	n/a
37	chr11:5442511-5442561	HCF	heart:	n/a
38	chr11:5442511-5442561	LNCaP	prostate:	n/a
39	chr11:5442511-5442561	HEEpiC	esophagus:	n/a
40	chr11:5442511-5442561	GM12892	blood:	n/a
41	chr11:5442511-5442561	T-47D	breast:	n/a
42	chr11:5442511-5442561	A549	lung:	n/a
43	chr11:5442511-5442561	PrEC	prostate:	n/a
44	chr11:5442511-5442561	U87	brain:	n/a
45	chr11:5442511-5442561	ovcar-3	ovarian:	n/a
46	chr11:5442511-5442561	HCT-116	colon:	n/a
47	chr11:5442511-5442561	HIPEpiC	eye:	n/a
48	chr11:5442511-5442561	HRPEpiC	eye:	n/a
49	chr11:5442511-5442561	HL-60	blood:	n/a
50	chr11:5442511-5442561	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
OR51Q1	TF binding region
OR51Q1	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	esv2761646	chr11:5406123-5454241	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
6	nsv430314	chr11:5411744-5496924	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	esv2757420	chr11:5416622-5492033	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
8	esv2759800	chr11:5416622-5492033	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
9	nsv896934	chr11:5427118-5450387	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv896935	chr11:5427118-5490077	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
11	nsv896937	chr11:5427118-5493309	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv896936	chr11:5427118-5493370	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	esv34391	chr11:5431984-5493309	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
14	nsv1050290	chr11:5440287-5497617	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
15	nsv1046764	chr11:5442226-5497617	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	21 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	chr11:5442400-5444400	Strong transcription	K562	blood

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