Variant report

Variant	rs530853554
Chromosome Location	chr14:20247965-20247966
allele	A/T
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	chr14:20247919-20247969	AG10803	skin:	n/a
2	chr14:20247919-20247969	NB4	blood:	n/a
3	chr14:20247919-20247969	Hepatocyte	liver:	n/a
4	chr14:20247919-20247969	HEK293	kidney:	embryo
5	chr14:20247919-20247969	HRE	kidney:	n/a
6	chr14:20247919-20247969	BJ	skin:	n/a
7	chr14:20247919-20247969	HL-60	blood:	n/a
8	chr14:20247919-20247969	CMK	blood:	n/a
9	chr14:20247919-20247969	ovcar-3	ovarian:	n/a
10	chr14:20247919-20247969	SK-N-MC	brain:	n/a
11	chr14:20247919-20247969	ECC-1	luminal epithelium:	n/a
12	chr14:20247919-20247969	GM12878	blood:	n/a
13	chr14:20247919-20247969	AG04450	lung:	fetal
14	chr14:20247919-20247969	A549	lung:	n/a
15	chr14:20247919-20247969	SK-N-SH	brain:	n/a
16	chr14:20247919-20247969	K562	blood:	n/a
17	chr14:20247919-20247969	GM12892	blood:	n/a
18	chr14:20247919-20247969	SKMC	muscle:	n/a
19	chr14:20247919-20247969	GM06990	blood:	n/a
20	chr14:20247919-20247969	BE2_C	brain:	n/a
21	chr14:20247919-20247969	SAEC	small airway:	n/a
22	chr14:20247919-20247969	MCF-7	breast:	n/a
23	chr14:20247919-20247969	HUVEC	blood vessel:	n/a
24	chr14:20247919-20247969	Jurkat	blood:	n/a
25	chr14:20247919-20247969	HepG2	liver:	n/a
26	chr14:20247919-20247969	NHBE	bronchial:	n/a
27	chr14:20247919-20247969	HMEC	breast:	n/a
28	chr14:20247919-20247969	Caco-2	colon:	n/a
29	chr14:20247919-20247969	H1-hESC	embryonic stem cell:	embryo
30	chr14:20247919-20247969	HCF	heart:	n/a
31	chr14:20247919-20247969	HIPEpiC	eye:	n/a
32	chr14:20247919-20247969	T-47D	breast:	n/a
33	chr14:20247919-20247969	HAEpiC	amniotic membrane:	n/a
34	chr14:20247919-20247969	NHDF-neo	bronchial:	n/a
35	chr14:20247919-20247969	AoSMC	blood vessel:	n/a
36	chr14:20247919-20247969	HRCEpiC	kidney:	n/a
37	chr14:20247919-20247969	IMR90	lung:	fetal
38	chr14:20247919-20247969	HCM	heart:	n/a
39	chr14:20247919-20247969	HCPEpiC	choroid plexus:	n/a
40	chr14:20247919-20247969	NH-A	brain:	n/a
41	chr14:20247919-20247969	GM19239	blood:	n/a
42	chr14:20247919-20247969	AG09309	skin:	n/a
43	chr14:20247919-20247969	GM12891	blood:	n/a
44	chr14:20247919-20247969	HEEpiC	esophagus:	n/a
45	chr14:20247919-20247969	MCF10A-Er-Src	breast:	n/a
46	chr14:20247919-20247969	NT2-D1	testis:	n/a
47	chr14:20247919-20247969	HCT-116	colon:	n/a
48	chr14:20247919-20247969	Hela-S3	cervix:	n/a
49	chr14:20247919-20247969	PrEC	prostate:	n/a
50	chr14:20247919-20247969	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
OR4M1	CpG island

Extended variants
information (count: 1012 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053511	chr14:19335739-20259951	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv563613	chr14:19376736-20317747	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1041816	chr14:19382197-20253780	ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1047744	chr14:19382197-20259951	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv1040783	chr14:19382197-20267876	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv1039008	chr14:19382197-20321078	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv1052826	chr14:19382197-20329765	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv1049532	chr14:19382197-20341294	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
9	nsv563615	chr14:19401281-20317747	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
10	nsv1054743	chr14:19416179-20259951	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv1048077	chr14:19416179-20267876	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
12	nsv1039372	chr14:19416179-20283021	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
13	nsv1051849	chr14:19416179-20299682	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
14	nsv1040031	chr14:19416179-20310923	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
15	nsv1046372	chr14:19416179-20315710	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	nsv1047362	chr14:19416179-20321078	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
17	nsv1049040	chr14:19416179-20328317	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
18	nsv1041939	chr14:19416179-20354993	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
19	nsv1036335	chr14:19416179-20395115	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
20	nsv1036652	chr14:19416179-20402570	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
21	nsv1047279	chr14:19416179-20407630	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
22	nsv1052468	chr14:19416179-20413659	ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
23	nsv1035296	chr14:19416179-20413846	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
24	nsv563623	chr14:19427159-20317747	Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
25	nsv1046328	chr14:19437975-20253780	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
26	nsv1042377	chr14:19437975-20259951	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
27	nsv1047322	chr14:19437975-20267876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
28	nsv1044019	chr14:19437975-20321078	ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
29	nsv1040643	chr14:19437975-20329765	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
30	nsv1044073	chr14:19437975-20342728	Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
31	nsv1039090	chr14:19437975-20374645	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
32	nsv1047327	chr14:19437975-20390542	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
33	nsv1049335	chr14:19437975-20413846	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
34	nsv1041743	chr14:19437975-20420227	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
35	nsv1041370	chr14:19437975-20422254	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
36	nsv1036303	chr14:19437975-20422583	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
37	nsv1040734	chr14:19437975-20423360	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
38	nsv1038225	chr14:19437975-20424926	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
39	nsv1036785	chr14:19437975-20425497	Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
40	nsv1035979	chr14:19438599-20420227	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
41	nsv1049987	chr14:19438599-20423360	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
42	nsv1038682	chr14:19453314-20263264	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
43	nsv1041043	chr14:19453314-20395115	Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
44	nsv1044602	chr14:19453314-20407630	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
45	nsv1035777	chr14:19453314-20413846	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
46	nsv1039436	chr14:19453314-20420227	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
47	nsv1051315	chr14:19453314-20422583	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
48	nsv1042632	chr14:19453314-20423360	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
49	nsv1038948	chr14:19453314-20424926	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
50	nsv1052794	chr14:19462471-20413846	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

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