Variant report

Variant	rs57193626
Chromosome Location	chr4:9445587-9445588
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	chr4:9445586-9445636	NHDF-neo	bronchial:	n/a
2	chr4:9445586-9445636	GM06990	blood:	n/a
3	chr4:9445586-9445636	AG04449	skin:	fetal
4	chr4:9445586-9445636	Caco-2	colon:	n/a
5	chr4:9445586-9445636	HCF	heart:	n/a
6	chr4:9445586-9445636	K562	blood:	n/a
7	chr4:9445586-9445636	AG09319	gingival:	n/a
8	chr4:9445586-9445636	AG04450	lung:	fetal
9	chr4:9445586-9445636	GM12891	blood:	n/a
10	chr4:9445586-9445636	HUVEC	blood vessel:	n/a
11	chr4:9445586-9445636	GM12892	blood:	n/a
12	chr4:9445586-9445636	CMK	blood:	n/a
13	chr4:9445586-9445636	H1-hESC	embryonic stem cell:	embryo
14	chr4:9445586-9445636	BE2_C	brain:	n/a
15	chr4:9445586-9445636	MCF10A-Er-Src	breast:	n/a
16	chr4:9445586-9445636	T-47D	breast:	n/a
17	chr4:9445586-9445636	PANC-1	pancreas:	n/a
18	chr4:9445586-9445636	PrEC	prostate:	n/a
19	chr4:9445586-9445636	SKMC	muscle:	n/a
20	chr4:9445586-9445636	HepG2	liver:	n/a
21	chr4:9445586-9445636	HIPEpiC	eye:	n/a
22	chr4:9445586-9445636	LNCaP	prostate:	n/a
23	chr4:9445586-9445636	AoSMC	blood vessel:	n/a
24	chr4:9445586-9445636	SK-N-SH_RA	brain:	n/a
25	chr4:9445586-9445636	NHBE	bronchial:	n/a
26	chr4:9445586-9445636	HNPCEpiC	eye:	n/a
27	chr4:9445586-9445636	HCPEpiC	choroid plexus:	n/a
28	chr4:9445586-9445636	HRE	kidney:	n/a
29	chr4:9445586-9445636	HMEC	breast:	n/a
30	chr4:9445586-9445636	HEEpiC	esophagus:	n/a
31	chr4:9445586-9445636	HRCEpiC	kidney:	n/a
32	chr4:9445586-9445636	NB4	blood:	n/a
33	chr4:9445586-9445636	HRPEpiC	eye:	n/a
34	chr4:9445586-9445636	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:9445586-9445636	PFSK-1	brain:	n/a
36	chr4:9445586-9445636	GM19239	blood:	n/a
37	chr4:9445586-9445636	SK-N-SH	brain:	n/a
38	chr4:9445586-9445636	MCF-7	breast:	n/a
39	chr4:9445586-9445636	NT2-D1	testis:	n/a
40	chr4:9445586-9445636	A549	lung:	n/a
41	chr4:9445586-9445636	AG10803	skin:	n/a
42	chr4:9445586-9445636	HAEpiC	amniotic membrane:	n/a
43	chr4:9445586-9445636	HCM	heart:	n/a
44	chr4:9445586-9445636	Jurkat	blood:	n/a
45	chr4:9445586-9445636	BJ	skin:	n/a
46	chr4:9445586-9445636	ProgFib	skin:	n/a
47	chr4:9445586-9445636	GM12878	blood:	n/a
48	chr4:9445586-9445636	Hepatocyte	liver:	n/a
49	chr4:9445586-9445636	Hela-S3	cervix:	n/a
50	chr4:9445586-9445636	NH-A	brain:	n/a

No data

Variant related genes	Relation type
DEFB131	CpG island

Extended variants
information (count: 239 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv915590	chr4:8607839-9558139	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
4	nsv1004715	chr4:8703109-9486075	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
5	nsv1007236	chr4:8705387-9449289	Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv1000980	chr4:8705387-9486075	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
7	nsv1013093	chr4:8715988-9456977	Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv1013881	chr4:8715988-9486075	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
9	nsv1010590	chr4:8715988-9501382	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv1005325	chr4:8716525-9497903	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	esv2760844	chr4:8724543-9544136	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv878626	chr4:8729638-9451923	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv878627	chr4:8729638-9470222	ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
14	nsv878628	chr4:8729638-9486579	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
15	nsv878629	chr4:8729638-9488662	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
16	nsv878630	chr4:8729638-9513465	Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
17	nsv878631	chr4:8729638-9527760	Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
18	nsv878632	chr4:8729638-9542759	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
19	nsv878633	chr4:8729638-9551094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
20	nsv517369	chr4:8729638-9573740	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
21	nsv878634	chr4:8729638-9609506	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
22	nsv878635	chr4:8729638-9614926	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
23	nsv878636	chr4:8729638-9626304	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
24	nsv878637	chr4:8729638-9651413	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
25	nsv878638	chr4:8729638-9687969	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
26	nsv878639	chr4:8732053-9470222	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
27	nsv471623	chr4:9324643-9594059	Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
28	esv1798060	chr4:9324644-9514568	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	esv1802194	chr4:9324644-9514568	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	esv1827424	chr4:9324644-9514568	Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
31	esv1830363	chr4:9324644-9514568	Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
32	esv1845345	chr4:9324644-9514568	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
33	esv1849386	chr4:9324644-9514568	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
34	esv1796218	chr4:9324644-9714338	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
35	nsv428108	chr4:9324644-9764173	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
36	esv16933	chr4:9324682-9496122	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island lncRNA	20 gene(s)	inside rSNPs	diseases
37	nsv980182	chr4:9324733-9486351	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	19 gene(s)	inside rSNPs	diseases
38	nsv878640	chr4:9335853-9470222	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	16 gene(s)	inside rSNPs	diseases
39	nsv878641	chr4:9335853-9486579	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
40	nsv878642	chr4:9335853-9488662	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
41	nsv878643	chr4:9335853-9503349	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
42	nsv593646	chr4:9368419-9453059	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
43	nsv593647	chr4:9368419-9488662	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
44	nsv829856	chr4:9370308-9479149	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
45	nsv1004808	chr4:9370690-9446843	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
46	nsv998301	chr4:9370690-9448618	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
47	nsv998182	chr4:9370690-9449289	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
48	nsv1014242	chr4:9370690-9451335	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
49	nsv1014102	chr4:9370690-9451923	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
50	nsv998100	chr4:9370690-9456977	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	6 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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