Variant report

Variant	rs7214997
Chromosome Location	chr17:20803980-20803981
allele	C/G
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	POLR2A	chr17:20803777-20804003	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:20803839-20804081	K562	blood:	n/a	n/a
3	POLR2A	chr17:20803715-20804197	K562	blood:	n/a	n/a
4	POLR2A	chr17:20802943-20804305	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20803963-20804013	GM12891	blood:	n/a
2	chr17:20803963-20804013	GM06990	blood:	n/a
3	chr17:20803963-20804013	HMEC	breast:	n/a
4	chr17:20803963-20804013	NT2-D1	testis:	n/a
5	chr17:20803963-20804013	NB4	blood:	n/a
6	chr17:20803963-20804013	HNPCEpiC	eye:	n/a
7	chr17:20803963-20804013	Jurkat	blood:	n/a
8	chr17:20803963-20804013	HL-60	blood:	n/a
9	chr17:20803963-20804013	MCF-7	breast:	n/a
10	chr17:20803963-20804013	PFSK-1	brain:	n/a
11	chr17:20803963-20804013	GM12892	blood:	n/a
12	chr17:20803963-20804013	LNCaP	prostate:	n/a
13	chr17:20803963-20804013	HCM	heart:	n/a
14	chr17:20803963-20804013	AG09309	skin:	n/a
15	chr17:20803963-20804013	RPTEC	kidney:	n/a
16	chr17:20803963-20804013	IMR90	lung:	fetal
17	chr17:20803963-20804013	SKMC	muscle:	n/a
18	chr17:20803963-20804013	GM12878	blood:	n/a
19	chr17:20803963-20804013	A549	lung:	n/a
20	chr17:20803963-20804013	SAEC	small airway:	n/a
21	chr17:20803963-20804013	HUVEC	blood vessel:	n/a
22	chr17:20803963-20804013	NH-A	brain:	n/a
23	chr17:20803963-20804013	HRCEpiC	kidney:	n/a
24	chr17:20803963-20804013	ovcar-3	ovarian:	n/a
25	chr17:20803963-20804013	MCF10A-Er-Src	breast:	n/a
26	chr17:20803963-20804013	ProgFib	skin:	n/a
27	chr17:20803963-20804013	HPAEpiC	pulmonary alveolar:	n/a
28	chr17:20803963-20804013	HCPEpiC	choroid plexus:	n/a
29	chr17:20803963-20804013	CMK	blood:	n/a
30	chr17:20803963-20804013	SK-N-MC	brain:	n/a
31	chr17:20803963-20804013	Hela-S3	cervix:	n/a
32	chr17:20803963-20804013	H1-hESC	embryonic stem cell:	embryo
33	chr17:20803963-20804013	PANC-1	pancreas:	n/a
34	chr17:20803963-20804013	U87	brain:	n/a
35	chr17:20803963-20804013	BJ	skin:	n/a
36	chr17:20803963-20804013	GM19239	blood:	n/a
37	chr17:20803963-20804013	PrEC	prostate:	n/a
38	chr17:20803963-20804013	AG04450	lung:	fetal
39	chr17:20803963-20804013	HepG2	liver:	n/a
40	chr17:20803963-20804013	HAEpiC	amniotic membrane:	n/a
41	chr17:20803963-20804013	NHBE	bronchial:	n/a
42	chr17:20803963-20804013	BE2_C	brain:	n/a
43	chr17:20803963-20804013	HCF	heart:	n/a
44	chr17:20803963-20804013	HCT-116	colon:	n/a
45	chr17:20803963-20804013	Hepatocyte	liver:	n/a
46	chr17:20803963-20804013	SK-N-SH	brain:	n/a
47	chr17:20803963-20804013	AG10803	skin:	n/a
48	chr17:20803963-20804013	HRE	kidney:	n/a
49	chr17:20803963-20804013	AG09319	gingival:	n/a
50	chr17:20803963-20804013	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
CCDC144NL	TF binding region
CCDC144NL	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs7209102	0.83[AFR][1000 genomes]
rs7210146	0.90[AFR][1000 genomes]
rs7210256	0.83[AFR][1000 genomes]
rs7219565	0.83[AFR][1000 genomes]
rs7224477	0.90[AFR][1000 genomes]
rs7225468	0.83[AFR][1000 genomes]
rs7226350	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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
6	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20798200-20811600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:20798800-20806800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:20800200-20811000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:20801800-20812200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:20802200-20807600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:20802800-20804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:20802800-20805600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:20803000-20805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:20803200-20806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:20803200-20811400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:20803400-20805800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:20803400-20811200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr17:20803400-20811400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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