Variant report

Variant	rs34480071
Chromosome Location	chr7:57509817-57509818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57509813-57509863	AG04449	skin:	fetal
2	chr7:57509813-57509863	SK-N-SH_RA	brain:	n/a
3	chr7:57509813-57509863	PrEC	prostate:	n/a
4	chr7:57509813-57509863	SAEC	small airway:	n/a
5	chr7:57509813-57509863	HRCEpiC	kidney:	n/a
6	chr7:57509813-57509863	HRPEpiC	eye:	n/a
7	chr7:57509813-57509863	ovcar-3	ovarian:	n/a
8	chr7:57509813-57509863	AG09319	gingival:	n/a
9	chr7:57509813-57509863	HRE	kidney:	n/a
10	chr7:57509813-57509863	HCT-116	colon:	n/a
11	chr7:57509813-57509863	CMK	blood:	n/a
12	chr7:57509813-57509863	H1-hESC	embryonic stem cell:	embryo
13	chr7:57509813-57509863	NHBE	bronchial:	n/a
14	chr7:57509813-57509863	IMR90	lung:	fetal
15	chr7:57509813-57509863	Jurkat	blood:	n/a
16	chr7:57509813-57509863	MCF-7	breast:	n/a
17	chr7:57509813-57509863	BE2_C	brain:	n/a
18	chr7:57509813-57509863	K562	blood:	n/a
19	chr7:57509813-57509863	ECC-1	luminal epithelium:	n/a
20	chr7:57509813-57509863	AG09309	skin:	n/a
21	chr7:57509813-57509863	AG04450	lung:	fetal
22	chr7:57509813-57509863	NHDF-neo	bronchial:	n/a
23	chr7:57509813-57509863	NB4	blood:	n/a
24	chr7:57509813-57509863	GM12892	blood:	n/a
25	chr7:57509813-57509863	HAEpiC	amniotic membrane:	n/a
26	chr7:57509813-57509863	GM12891	blood:	n/a
27	chr7:57509813-57509863	RPTEC	kidney:	n/a
28	chr7:57509813-57509863	HL-60	blood:	n/a
29	chr7:57509813-57509863	ProgFib	skin:	n/a
30	chr7:57509813-57509863	HEEpiC	esophagus:	n/a
31	chr7:57509813-57509863	PANC-1	pancreas:	n/a
32	chr7:57509813-57509863	Hela-S3	cervix:	n/a
33	chr7:57509813-57509863	HCM	heart:	n/a
34	chr7:57509813-57509863	Caco-2	colon:	n/a
35	chr7:57509813-57509863	U87	brain:	n/a
36	chr7:57509813-57509863	HNPCEpiC	eye:	n/a
37	chr7:57509813-57509863	A549	lung:	n/a
38	chr7:57509813-57509863	BJ	skin:	n/a
39	chr7:57509813-57509863	AoSMC	blood vessel:	n/a
40	chr7:57509813-57509863	GM06990	blood:	n/a
41	chr7:57509813-57509863	GM19239	blood:	n/a
42	chr7:57509813-57509863	Hepatocyte	liver:	n/a
43	chr7:57509813-57509863	T-47D	breast:	n/a
44	chr7:57509813-57509863	HCPEpiC	choroid plexus:	n/a
45	chr7:57509813-57509863	SKMC	muscle:	n/a
46	chr7:57509813-57509863	HCF	heart:	n/a
47	chr7:57509813-57509863	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:57509813-57509863	PFSK-1	brain:	n/a
49	chr7:57509813-57509863	NT2-D1	testis:	n/a
50	chr7:57509813-57509863	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
ZNF716	CpG island

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10224987	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10229967	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230624	0.85[AMR][1000 genomes]
rs10232273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234088	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10237132	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10240849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261876	1.00[EUR][1000 genomes]
rs10265002	1.00[EUR][1000 genomes]
rs10268730	1.00[EUR][1000 genomes]
rs10268746	1.00[EUR][1000 genomes]
rs10270242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271598	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271725	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11135647	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11135648	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11135649	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11980912	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983594	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983620	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12667173	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12669454	1.00[EUR][1000 genomes]
rs12669546	1.00[EUR][1000 genomes]
rs12670667	1.00[EUR][1000 genomes]
rs12671801	1.00[EUR][1000 genomes]
rs12672197	1.00[EUR][1000 genomes]
rs12673797	1.00[EUR][1000 genomes]
rs17136179	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17136182	1.00[EUR][1000 genomes]
rs17136183	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17136185	1.00[EUR][1000 genomes]
rs17136293	0.85[AMR][1000 genomes]
rs17136771	1.00[EUR][1000 genomes]
rs17151493	1.00[EUR][1000 genomes]
rs17151733	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28570050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657735	1.00[EUR][1000 genomes]
rs34454158	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35754388	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56731979	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57095323	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57439334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57915171	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60526750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60965433	1.00[EUR][1000 genomes]
rs73343830	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343832	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343834	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343835	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343854	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343856	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343858	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343863	1.00[EUR][1000 genomes]
rs73343864	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73360852	1.00[EUR][1000 genomes]
rs9656565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016541	chr7:56823372-57806010	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1031261	chr7:56949355-57601047	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1029803	chr7:57007829-57601047	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1019165	chr7:57065348-57659814	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1032599	chr7:57065348-57667279	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv607047	chr7:57190580-57608901	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
7	nsv607048	chr7:57190580-58018981	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
8	esv2761119	chr7:57190580-58019970	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1031756	chr7:57197811-57667279	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
10	nsv464484	chr7:57208666-57589803	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
11	nsv607049	chr7:57208666-57589803	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
12	nsv520659	chr7:57208666-57868103	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1020026	chr7:57212585-57626147	ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv538866	chr7:57212585-57626147	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
15	nsv1017873	chr7:57244029-57882330	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
16	nsv1018512	chr7:57253403-57855404	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
17	nsv538870	chr7:57253403-57855404	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
18	nsv1017499	chr7:57253403-57886151	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
19	nsv538871	chr7:57253403-57886151	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
20	nsv607050	chr7:57254647-57589803	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
21	nsv1029476	chr7:57260920-58019983	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
22	esv2752161	chr7:57275833-57919980	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
23	nsv1030441	chr7:57288140-58019983	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
24	nsv1020184	chr7:57318828-58019983	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
25	nsv1015195	chr7:57334076-58019983	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
26	nsv1027062	chr7:57470632-57597142	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1017630	chr7:57470632-57758908	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
28	nsv1019359	chr7:57473854-58019983	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
29	nsv1027128	chr7:57475179-57770028	ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	esv2752832	chr7:57476143-57919943	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
31	esv2752162	chr7:57476164-57919980	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
32	nsv1028263	chr7:57484031-57636158	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv1018012	chr7:57487734-57636158	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv607052	chr7:57488782-57639830	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv464485	chr7:57488801-57618770	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
36	nsv607053	chr7:57488801-57618770	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
37	nsv607054	chr7:57488801-57621951	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

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