Variant report

Variant	rs553481501
Chromosome Location	chr7:4902069-4902070
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: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	chr7:4902050-4902100	T-47D	breast:	n/a
2	chr7:4902050-4902100	SK-N-SH_RA	brain:	n/a
3	chr7:4902050-4902100	AG09319	gingival:	n/a
4	chr7:4902050-4902100	HAEpiC	amniotic membrane:	n/a
5	chr7:4902050-4902100	Caco-2	colon:	n/a
6	chr7:4902050-4902100	HRPEpiC	eye:	n/a
7	chr7:4902050-4902100	HMEC	breast:	n/a
8	chr7:4902050-4902100	SKMC	muscle:	n/a
9	chr7:4902050-4902100	AG09309	skin:	n/a
10	chr7:4902050-4902100	BJ	skin:	n/a
11	chr7:4902050-4902100	GM12892	blood:	n/a
12	chr7:4902050-4902100	AoSMC	blood vessel:	n/a
13	chr7:4902050-4902100	HEEpiC	esophagus:	n/a
14	chr7:4902050-4902100	CMK	blood:	n/a
15	chr7:4902050-4902100	PFSK-1	brain:	n/a
16	chr7:4902050-4902100	IMR90	lung:	fetal
17	chr7:4902050-4902100	NB4	blood:	n/a
18	chr7:4902050-4902100	AG04450	lung:	fetal
19	chr7:4902050-4902100	SAEC	small airway:	n/a
20	chr7:4902050-4902100	PANC-1	pancreas:	n/a
21	chr7:4902050-4902100	HCF	heart:	n/a
22	chr7:4902050-4902100	GM12878	blood:	n/a
23	chr7:4902050-4902100	HEK293	kidney:	embryo
24	chr7:4902050-4902100	Hela-S3	cervix:	n/a
25	chr7:4902050-4902100	SK-N-SH	brain:	n/a
26	chr7:4902050-4902100	HRE	kidney:	n/a
27	chr7:4902050-4902100	HepG2	liver:	n/a
28	chr7:4902050-4902100	GM06990	blood:	n/a
29	chr7:4902050-4902100	HUVEC	blood vessel:	n/a
30	chr7:4902050-4902100	NH-A	brain:	n/a
31	chr7:4902050-4902100	AG04449	skin:	fetal
32	chr7:4902050-4902100	GM19239	blood:	n/a
33	chr7:4902050-4902100	PrEC	prostate:	n/a
34	chr7:4902050-4902100	BE2_C	brain:	n/a
35	chr7:4902050-4902100	HCPEpiC	choroid plexus:	n/a
36	chr7:4902050-4902100	K562	blood:	n/a
37	chr7:4902050-4902100	A549	lung:	n/a
38	chr7:4902050-4902100	ECC-1	luminal epithelium:	n/a
39	chr7:4902050-4902100	NHBE	bronchial:	n/a
40	chr7:4902050-4902100	LNCaP	prostate:	n/a
41	chr7:4902050-4902100	MCF10A-Er-Src	breast:	n/a
42	chr7:4902050-4902100	MCF-7	breast:	n/a
43	chr7:4902050-4902100	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:4902050-4902100	ovcar-3	ovarian:	n/a
45	chr7:4902050-4902100	HIPEpiC	eye:	n/a
46	chr7:4902050-4902100	HL-60	blood:	n/a
47	chr7:4902050-4902100	HRCEpiC	kidney:	n/a
48	chr7:4902050-4902100	HCM	heart:	n/a
49	chr7:4902050-4902100	Jurkat	blood:	n/a
50	chr7:4902050-4902100	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
PAPOLB	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv605980	chr7:4876057-5003373	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
22	nsv970439	chr7:4901682-4908069	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4900400-4902200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:4900800-4902200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:4901000-4902200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:4901000-4902200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:4901000-4902200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr7:4901000-4902200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:4901200-4902200	ZNF genes & repeats	Lung	lung
8	chr7:4901200-4902200	Active TSS	Rectal Smooth Muscle	rectum
9	chr7:4901400-4902200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr7:4901800-4902200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr7:4901800-4902200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:4902000-4902200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:4902000-4902200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:4902000-4902200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:4902000-4902200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:4902000-4902200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
17	chr7:4902000-4902200	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:4902000-4903600	Weak transcription	Right Ventricle	heart

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