Variant report

Variant	rs554690655
Chromosome Location	chr8:7191954-7191955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:7191953-7192003	MCF-7	breast:	n/a
2	chr8:7191953-7192003	ECC-1	luminal epithelium:	n/a
3	chr8:7191953-7192003	NB4	blood:	n/a
4	chr8:7191920-7191970	Caco-2	colon:	n/a
5	chr8:7191953-7192003	CMK	blood:	n/a
6	chr8:7191953-7192003	AG09319	gingival:	n/a
7	chr8:7191953-7192003	GM12891	blood:	n/a
8	chr8:7191953-7192003	GM12892	blood:	n/a
9	chr8:7191920-7191970	GM12891	blood:	n/a
10	chr8:7191953-7192003	NHDF-neo	bronchial:	n/a
11	chr8:7191953-7192003	GM06990	blood:	n/a
12	chr8:7191920-7191970	AG09309	skin:	n/a
13	chr8:7191953-7192003	HCT-116	colon:	n/a
14	chr8:7191953-7192003	MCF10A-Er-Src	breast:	n/a
15	chr8:7191920-7191970	NT2-D1	testis:	n/a
16	chr8:7191953-7192003	H1-hESC	embryonic stem cell:	embryo
17	chr8:7191953-7192003	HAEpiC	amniotic membrane:	n/a
18	chr8:7191920-7191970	HCF	heart:	n/a
19	chr8:7191920-7191970	SAEC	small airway:	n/a
20	chr8:7191953-7192003	AG04450	lung:	fetal
21	chr8:7191920-7191970	K562	blood:	n/a
22	chr8:7191920-7191970	HUVEC	blood vessel:	n/a
23	chr8:7191920-7191970	MCF-7	breast:	n/a
24	chr8:7191953-7192003	PrEC	prostate:	n/a
25	chr8:7191920-7191970	AG04450	lung:	fetal
26	chr8:7191920-7191970	AG09319	gingival:	n/a
27	chr8:7191953-7192003	GM12878	blood:	n/a
28	chr8:7191920-7191970	HL-60	blood:	n/a
29	chr8:7191953-7192003	SKMC	muscle:	n/a
30	chr8:7191920-7191970	HRE	kidney:	n/a
31	chr8:7191920-7191970	HNPCEpiC	eye:	n/a
32	chr8:7191953-7192003	NHBE	bronchial:	n/a
33	chr8:7191920-7191970	IMR90	lung:	fetal
34	chr8:7191953-7192003	AG09309	skin:	n/a
35	chr8:7191920-7191970	HPAEpiC	pulmonary alveolar:	n/a
36	chr8:7191920-7191970	H1-hESC	embryonic stem cell:	embryo
37	chr8:7191953-7192003	HMEC	breast:	n/a
38	chr8:7191953-7192003	AoSMC	blood vessel:	n/a
39	chr8:7191953-7192003	HCM	heart:	n/a
40	chr8:7191920-7191970	HEEpiC	esophagus:	n/a
41	chr8:7191953-7192003	HPAEpiC	pulmonary alveolar:	n/a
42	chr8:7191920-7191970	Jurkat	blood:	n/a
43	chr8:7191920-7191970	Hela-S3	cervix:	n/a
44	chr8:7191953-7192003	HEEpiC	esophagus:	n/a
45	chr8:7191953-7192003	SAEC	small airway:	n/a
46	chr8:7191953-7192003	SK-N-SH_RA	brain:	n/a
47	chr8:7191920-7191970	ECC-1	luminal epithelium:	n/a
48	chr8:7191920-7191970	AG10803	skin:	n/a
49	chr8:7191920-7191970	HRPEpiC	eye:	n/a
50	chr8:7191920-7191970	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
USP17L4	CpG island

Extended variants
information (count: 322 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS 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	72 gene(s)	inside rSNPs	diseases
2	nsv1027883	chr8:6570354-7250368	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats 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	53 gene(s)	inside rSNPs	diseases
3	nsv429845	chr8:6729645-7690320	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
4	nsv1016218	chr8:6808907-7226424	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	esv1792160	chr8:6824069-7240691	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1029843	chr8:6833356-7832042	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	79 gene(s)	inside rSNPs	diseases
7	esv1807935	chr8:6835213-7789243	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
8	nsv1017134	chr8:6859650-7226424	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv1018704	chr8:6878841-7798839	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
10	nsv1024678	chr8:6879803-7744052	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
11	nsv491766	chr8:6880304-7752586	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
12	nsv1018227	chr8:6882393-7832042	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
13	nsv1021531	chr8:6921124-7226424	Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
14	nsv1015272	chr8:6925100-7226424	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	nsv1023625	chr8:6925100-7392945	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv890074	chr8:6925869-7290194	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv1018758	chr8:6933746-7226424	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv1020483	chr8:6933746-7759581	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	nsv1024505	chr8:6935820-7226424	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	esv3392115	chr8:6936974-7454957	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
21	nsv1016219	chr8:6937887-7798839	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
22	nsv1022167	chr8:6940602-7783150	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
23	nsv1033014	chr8:6959821-7226424	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
24	nsv1020903	chr8:6959821-7255098	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
25	nsv1028748	chr8:6959821-7744052	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
26	nsv1023663	chr8:6959821-7787950	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
27	nsv1031341	chr8:6959821-7838762	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
28	nsv1034593	chr8:6959821-7959558	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	78 gene(s)	inside rSNPs	diseases
29	nsv1026778	chr8:6962741-7646315	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
30	nsv1018857	chr8:6969814-7217040	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
31	nsv1015767	chr8:6969814-7226424	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
32	nsv1032311	chr8:6978399-7226424	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
33	nsv1033870	chr8:6982258-7787721	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
34	nsv1024626	chr8:6982258-7832042	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
35	nsv1031467	chr8:6988456-7226424	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
36	nsv1019201	chr8:6988456-7267353	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
37	nsv1018664	chr8:6988456-7759581	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
38	nsv1027505	chr8:6988456-7787950	Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
39	nsv1017977	chr8:6988914-7217742	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
40	nsv1015230	chr8:6988914-7250368	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
41	nsv1019942	chr8:6995105-7222169	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
42	nsv1021515	chr8:6995105-7226424	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
43	nsv1025140	chr8:6995105-7250368	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
44	nsv1017706	chr8:6995105-7291032	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
45	nsv1022351	chr8:6995105-7331757	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
46	nsv1030381	chr8:6995105-7372233	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
47	nsv1022553	chr8:6995105-7392945	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
48	nsv1033780	chr8:6995105-7798839	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
49	nsv1022721	chr8:6995105-7827355	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
50	nsv1019285	chr8:6995105-7866150	Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	67 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
chromosomal regions: chr1:12345-34567

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