Variant report

Variant	rs386689185
Chromosome Location	chr5:75470086-75470087
allele	CA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:75470061-75470175	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:75470020-75470208	GM12891	blood:	n/a	n/a
3	MYC	chr5:75470027-75470145	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:75470033-75470181	A549	lung:	n/a	n/a
5	POLR2A	chr5:75469952-75470283	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:75469794-75470180	MCF-7	breast:	n/a	n/a
7	POLR2A	chr5:75469846-75470294	HUVEC	blood vessel:	n/a	n/a
8	TAF1	chr5:75470040-75470196	GM12892	blood:	n/a	n/a
9	MYC	chr5:75470029-75470128	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr5:75470031-75470145	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:75469845-75470176	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:75469884-75470246	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:75470039-75470197	HepG2	liver:	n/a	n/a
14	POLR2A	chr5:75470034-75470243	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:75470022-75470234	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr5:75470033-75470201	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr5:75469962-75470276	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr5:75469764-75470227	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:75470017-75470218	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:75470022-75470190	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr5:75469991-75470186	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:75470021-75470188	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:75469996-75470221	GM12892	blood:	n/a	n/a
24	POLR2A	chr5:75469993-75470227	GM12892	blood:	n/a	n/a
25	GABPA	chr5:75470055-75470186	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:75470033-75470170	A549	lung:	n/a	n/a
27	TAF1	chr5:75469933-75470291	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:75470028-75470209	HepG2	liver:	n/a	n/a
29	TAF1	chr5:75470008-75470224	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:75469986-75470230	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr5:75469875-75470258	GM12892	blood:	n/a	n/a
32	POLR2A	chr5:75469978-75470264	GM12891	blood:	n/a	n/a
33	POLR2A	chr5:75469991-75470265	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr5:75470077-75470186	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr5:75469889-75470232	GM12891	blood:	n/a	n/a
36	TAF1	chr5:75470034-75470178	Hela-S3	cervix:	n/a	n/a
37	HEY1	chr5:75469917-75470282	K562	blood:	n/a	n/a
38	SIN3AK20	chr5:75470037-75470176	HepG2	liver:	n/a	n/a
39	POLR2A	chr5:75469835-75470178	K562	blood:	n/a	n/a
40	POLR2A	chr5:75469828-75470177	A549	lung:	n/a	n/a
41	POLR2A	chr5:75469883-75470274	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAF1	chr5:75470030-75470286	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:75469778-75470326	ProgFib	skin:	n/a	n/a
44	HEY1	chr5:75469949-75470206	K562	blood:	n/a	n/a
45	POLR2A	chr5:75470004-75470222	GM12891	blood:	n/a	n/a
46	POLR2A	chr5:75469877-75470177	GM12878	blood:	n/a	n/a
47	CTCF	chr5:75470070-75470123	MCF-7	breast:	n/a	n/a
48	POLR2A	chr5:75469902-75470168	HepG2	liver:	n/a	n/a
49	POLR2A	chr5:75470032-75470187	HepG2	liver:	n/a	n/a
50	POLR2A	chr5:75469869-75470350	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75470039-75470089	ECC-1	luminal epithelium:	n/a
2	chr5:75470039-75470089	T-47D	breast:	n/a
3	chr5:75470039-75470089	PANC-1	pancreas:	n/a
4	chr5:75470039-75470089	HEEpiC	esophagus:	n/a
5	chr5:75470039-75470089	SAEC	small airway:	n/a
6	chr5:75470039-75470089	HCPEpiC	choroid plexus:	n/a
7	chr5:75470039-75470089	Hepatocyte	liver:	n/a
8	chr5:75470039-75470089	HCF	heart:	n/a
9	chr5:75470039-75470089	RPTEC	kidney:	n/a
10	chr5:75470039-75470089	MCF10A-Er-Src	breast:	n/a
11	chr5:75470039-75470089	GM12878	blood:	n/a
12	chr5:75470039-75470089	NHBE	bronchial:	n/a
13	chr5:75470039-75470089	ovcar-3	ovarian:	n/a
14	chr5:75470039-75470089	HRE	kidney:	n/a
15	chr5:75470039-75470089	HL-60	blood:	n/a
16	chr5:75470039-75470089	HUVEC	blood vessel:	n/a
17	chr5:75470039-75470089	SK-N-MC	brain:	n/a
18	chr5:75470039-75470089	HMEC	breast:	n/a
19	chr5:75470039-75470089	HPAEpiC	pulmonary alveolar:	n/a
20	chr5:75470039-75470089	Jurkat	blood:	n/a
21	chr5:75470039-75470089	SKMC	muscle:	n/a
22	chr5:75470039-75470089	MCF-7	breast:	n/a
23	chr5:75470039-75470089	HNPCEpiC	eye:	n/a
24	chr5:75470039-75470089	BE2_C	brain:	n/a
25	chr5:75470039-75470089	AG04450	lung:	fetal
26	chr5:75470039-75470089	Caco-2	colon:	n/a
27	chr5:75470039-75470089	HAEpiC	amniotic membrane:	n/a
28	chr5:75470039-75470089	HRCEpiC	kidney:	n/a
29	chr5:75470039-75470089	BJ	skin:	n/a
30	chr5:75470039-75470089	SK-N-SH_RA	brain:	n/a
31	chr5:75470039-75470089	NHDF-neo	bronchial:	n/a
32	chr5:75470039-75470089	HRPEpiC	eye:	n/a
33	chr5:75470039-75470089	NB4	blood:	n/a
34	chr5:75470039-75470089	HepG2	liver:	n/a
35	chr5:75470039-75470089	H1-hESC	embryonic stem cell:	embryo
36	chr5:75470039-75470089	AG09319	gingival:	n/a
37	chr5:75470039-75470089	AG10803	skin:	n/a
38	chr5:75470039-75470089	HEK293	kidney:	embryo
39	chr5:75470039-75470089	CMK	blood:	n/a
40	chr5:75470039-75470089	IMR90	lung:	fetal
41	chr5:75470039-75470089	HCT-116	colon:	n/a
42	chr5:75470039-75470089	HIPEpiC	eye:	n/a
43	chr5:75470039-75470089	AG09309	skin:	n/a
44	chr5:75470039-75470089	AG04449	skin:	fetal
45	chr5:75470039-75470089	SK-N-SH	brain:	n/a
46	chr5:75470039-75470089	LNCaP	prostate:	n/a
47	chr5:75470039-75470089	A549	lung:	n/a
48	chr5:75470039-75470089	NH-A	brain:	n/a
49	chr5:75470039-75470089	GM12891	blood:	n/a
50	chr5:75470039-75470089	GM19239	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000254893	TF binding region
ENSG00000254893	CpG island

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2757119	chr5:75426863-75474780	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2759351	chr5:75426863-75474780	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv34958	chr5:75429015-75474921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv989228	chr5:75466097-75470949	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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