Variant report

Variant	rs7216945
Chromosome Location	chr17:20799211-20799212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20798809-20800181	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr17:20799208-20799935	A549	lung:	n/a	chr17:20799603-20799621
3	POLR2A	chr17:20799069-20799337	K562	blood:	n/a	n/a
4	POLR2A	chr17:20798830-20799886	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr17:20799100-20799250	GM12866	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20799162-20799212	Jurkat	blood:	n/a
2	chr17:20799162-20799212	LNCaP	prostate:	n/a
3	chr17:20799162-20799212	K562	blood:	n/a
4	chr17:20799162-20799212	Caco-2	colon:	n/a
5	chr17:20799162-20799212	HRE	kidney:	n/a
6	chr17:20799162-20799212	IMR90	lung:	fetal
7	chr17:20799162-20799212	MCF10A-Er-Src	breast:	n/a
8	chr17:20799162-20799212	ProgFib	skin:	n/a
9	chr17:20799162-20799212	H1-hESC	embryonic stem cell:	embryo
10	chr17:20799162-20799212	NHDF-neo	bronchial:	n/a
11	chr17:20799162-20799212	HCPEpiC	choroid plexus:	n/a
12	chr17:20799162-20799212	AG09319	gingival:	n/a
13	chr17:20799162-20799212	HepG2	liver:	n/a
14	chr17:20799162-20799212	SKMC	muscle:	n/a
15	chr17:20799162-20799212	SK-N-SH	brain:	n/a
16	chr17:20799162-20799212	HRCEpiC	kidney:	n/a
17	chr17:20799162-20799212	PrEC	prostate:	n/a
18	chr17:20799162-20799212	GM12892	blood:	n/a
19	chr17:20799162-20799212	PFSK-1	brain:	n/a
20	chr17:20799162-20799212	HCF	heart:	n/a
21	chr17:20799162-20799212	HMEC	breast:	n/a
22	chr17:20799162-20799212	GM12878	blood:	n/a
23	chr17:20799162-20799212	Hela-S3	cervix:	n/a
24	chr17:20799162-20799212	HAEpiC	amniotic membrane:	n/a
25	chr17:20799162-20799212	GM19239	blood:	n/a
26	chr17:20799162-20799212	HL-60	blood:	n/a
27	chr17:20799162-20799212	AoSMC	blood vessel:	n/a
28	chr17:20799162-20799212	A549	lung:	n/a
29	chr17:20799162-20799212	AG04450	lung:	fetal
30	chr17:20799162-20799212	HCT-116	colon:	n/a
31	chr17:20799162-20799212	Hepatocyte	liver:	n/a
32	chr17:20799162-20799212	BE2_C	brain:	n/a
33	chr17:20799162-20799212	NHBE	bronchial:	n/a
34	chr17:20799162-20799212	GM06990	blood:	n/a
35	chr17:20799162-20799212	NH-A	brain:	n/a
36	chr17:20799162-20799212	ovcar-3	ovarian:	n/a
37	chr17:20799162-20799212	HIPEpiC	eye:	n/a
38	chr17:20799162-20799212	BJ	skin:	n/a
39	chr17:20799162-20799212	HEEpiC	esophagus:	n/a
40	chr17:20799162-20799212	ECC-1	luminal epithelium:	n/a
41	chr17:20799162-20799212	AG04449	skin:	fetal
42	chr17:20799162-20799212	U87	brain:	n/a
43	chr17:20799162-20799212	RPTEC	kidney:	n/a
44	chr17:20799162-20799212	HPAEpiC	pulmonary alveolar:	n/a
45	chr17:20799162-20799212	SAEC	small airway:	n/a
46	chr17:20799162-20799212	CMK	blood:	n/a
47	chr17:20799162-20799212	NT2-D1	testis:	n/a
48	chr17:20799162-20799212	HCM	heart:	n/a
49	chr17:20799162-20799212	AG09309	skin:	n/a
50	chr17:20799162-20799212	AG10803	skin:	n/a

No data

Variant related genes	Relation type
RNU6-1178P	TF binding region
RNU6-1178P	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28603176	1.00[AMR][1000 genomes]
rs7211311	1.00[AMR][1000 genomes]
rs7215626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7216787	1.00[AMR][1000 genomes]
rs7216932	0.95[AFR][1000 genomes];1.00[AMR][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	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv960439	chr17:20733458-20799926	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20780800-20801600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20782600-20801200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:20784600-20799600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:20789400-20801800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr17:20797600-20799400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:20798200-20801200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:20798200-20811600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:20798600-20801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:20798800-20800200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:20798800-20806800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:20799000-20799800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:20799000-20800000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr17:20799200-20799600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:20799200-20799800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:20799200-20800000	Active TSS	Fetal Brain Female	brain
16	chr17:20799200-20800200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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