Variant report

Variant	rs2140593
Chromosome Location	chr7:64597624-64597625
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr7:64597584-64597795	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:64596564-64598039	PFSK-1	brain:	n/a	n/a
3	POU2F2	chr7:64597213-64597788	GM12878	blood:	n/a	n/a
4	GATA2	chr7:64596940-64598157	K562	blood:	n/a	n/a
5	TRIM28	chr7:64597304-64597641	K562	blood:	n/a	n/a
6	E2F6	chr7:64597547-64597662	K562	blood:	n/a	n/a
7	POLR2A	chr7:64596053-64598313	PFSK-1	brain:	n/a	n/a
8	FOXP2	chr7:64597579-64597778	PFSK-1	brain:	n/a	n/a
9	STAT5A	chr7:64597150-64597738	K562	blood:	n/a	n/a
10	NR2F2	chr7:64597022-64597741	K562	blood:	n/a	n/a
11	FOSL2	chr7:64597310-64597649	HepG2	liver:	n/a	n/a
12	CBX3	chr7:64596961-64597693	K562	blood:	n/a	n/a
13	MAX	chr7:64597538-64597651	K562	blood:	n/a	chr7:64597599-64597609 chr7:64597601-64597608 chr7:64597598-64597613 chr7:64597600-64597609 chr7:64597599-64597609 chr7:64597600-64597609
14	MAX	chr7:64597518-64597696	K562	blood:	n/a	chr7:64597599-64597609 chr7:64597601-64597608 chr7:64597598-64597613 chr7:64597600-64597609 chr7:64597599-64597609 chr7:64597600-64597609
15	CBX3	chr7:64596910-64598009	K562	blood:	n/a	n/a
16	NR2F2	chr7:64597170-64597665	K562	blood:	n/a	n/a
17	MAX	chr7:64597449-64597642	K562	blood:	n/a	chr7:64597599-64597609 chr7:64597601-64597608 chr7:64597598-64597613 chr7:64597600-64597609 chr7:64597599-64597609 chr7:64597600-64597609
18	TRIM28	chr7:64597123-64597787	K562	blood:	n/a	n/a
19	CEBPB	chr7:64597188-64597656	K562	blood:	n/a	n/a
20	HEY1	chr7:64597013-64597735	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64597604-64597654	SKMC	muscle:	n/a
2	chr7:64597604-64597654	NHDF-neo	bronchial:	n/a
3	chr7:64597604-64597654	GM19239	blood:	n/a
4	chr7:64597604-64597654	RPTEC	kidney:	n/a
5	chr7:64597604-64597654	H1-hESC	embryonic stem cell:	embryo
6	chr7:64597604-64597654	NH-A	brain:	n/a
7	chr7:64597604-64597654	K562	blood:	n/a
8	chr7:64597604-64597654	PFSK-1	brain:	n/a
9	chr7:64597604-64597654	ECC-1	luminal epithelium:	n/a
10	chr7:64597604-64597654	HepG2	liver:	n/a
11	chr7:64597604-64597654	SK-N-SH_RA	brain:	n/a
12	chr7:64597604-64597654	HCT-116	colon:	n/a
13	chr7:64597604-64597654	HEEpiC	esophagus:	n/a
14	chr7:64597604-64597654	IMR90	lung:	fetal
15	chr7:64597604-64597654	Jurkat	blood:	n/a
16	chr7:64597604-64597654	PANC-1	pancreas:	n/a
17	chr7:64597604-64597654	HEK293	kidney:	embryo
18	chr7:64597604-64597654	GM12892	blood:	n/a
19	chr7:64597604-64597654	NB4	blood:	n/a
20	chr7:64597604-64597654	HRE	kidney:	n/a
21	chr7:64597604-64597654	SK-N-MC	brain:	n/a
22	chr7:64597604-64597654	HCF	heart:	n/a
23	chr7:64597604-64597654	Caco-2	colon:	n/a
24	chr7:64597604-64597654	AoSMC	blood vessel:	n/a
25	chr7:64597604-64597654	U87	brain:	n/a
26	chr7:64597604-64597654	SAEC	small airway:	n/a
27	chr7:64597604-64597654	ovcar-3	ovarian:	n/a
28	chr7:64597604-64597654	ProgFib	skin:	n/a
29	chr7:64597604-64597654	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:64597604-64597654	HNPCEpiC	eye:	n/a
31	chr7:64597604-64597654	HIPEpiC	eye:	n/a
32	chr7:64597604-64597654	AG09309	skin:	n/a
33	chr7:64597604-64597654	NT2-D1	testis:	n/a
34	chr7:64597604-64597654	GM12878	blood:	n/a
35	chr7:64597604-64597654	HMEC	breast:	n/a
36	chr7:64597604-64597654	Hela-S3	cervix:	n/a
37	chr7:64597604-64597654	GM12891	blood:	n/a
38	chr7:64597604-64597654	A549	lung:	n/a
39	chr7:64597604-64597654	HCM	heart:	n/a
40	chr7:64597604-64597654	HL-60	blood:	n/a
41	chr7:64597604-64597654	Hepatocyte	liver:	n/a
42	chr7:64597604-64597654	CMK	blood:	n/a
43	chr7:64597604-64597654	BE2_C	brain:	n/a
44	chr7:64597604-64597654	BJ	skin:	n/a
45	chr7:64597604-64597654	HCPEpiC	choroid plexus:	n/a
46	chr7:64597604-64597654	NHBE	bronchial:	n/a
47	chr7:64597604-64597654	GM06990	blood:	n/a
48	chr7:64597604-64597654	T-47D	breast:	n/a
49	chr7:64597604-64597654	MCF10A-Er-Src	breast:	n/a
50	chr7:64597604-64597654	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
INTS4L1	TF binding region
INTS4L1	CpG island

Extended variants
information (count: 95 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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
2	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv916005	chr7:64499811-65012082	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv533081	chr7:64499945-65208605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
17	nsv888285	chr7:64511564-64662075	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv888286	chr7:64529883-64800432	Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv888287	chr7:64537992-64990806	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	esv2758117	chr7:64551274-65208605	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
22	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
23	esv2752167	chr7:64557394-65012082	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv2752168	chr7:64557394-65012082	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	esv2752169	chr7:64557394-65012082	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv429768	chr7:64557394-65012082	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
27	nsv888288	chr7:64562139-64653649	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv1021867	chr7:64565573-65012082	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
29	nsv1032570	chr7:64565573-65184339	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
30	esv20927	chr7:64566942-64637306	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv820581	chr7:64566942-64637306	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
32	nsv1029343	chr7:64566957-65208605	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
33	nsv538894	chr7:64566957-65208605	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
34	esv1832274	chr7:64566958-64628357	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
35	esv1794191	chr7:64566958-64634779	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
36	esv1808585	chr7:64566958-64634779	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
37	esv1844099	chr7:64566958-64634779	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv869856	chr7:64567013-65196403	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
39	esv1793906	chr7:64568080-64629957	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
40	esv1813815	chr7:64570548-64629419	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
41	esv3342904	chr7:64578717-64602115	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
42	esv1828526	chr7:64581557-64600758	Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
43	esv1791792	chr7:64581557-64630596	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
44	esv10869	chr7:64581741-64601829	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
45	esv1849049	chr7:64581878-64600958	Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
46	esv1828131	chr7:64581878-64602585	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
47	esv1808673	chr7:64581878-64634587	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
48	nsv8121	chr7:64582217-64602421	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
49	esv1805280	chr7:64582661-64634920	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
50	nsv607316	chr7:64582849-65208605	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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