Variant report

Variant	rs543424975
Chromosome Location	chr11:48977861-48977862
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	chr11:48977834-48977884	GM12878	blood:	n/a
2	chr11:48977834-48977884	HUVEC	blood vessel:	n/a
3	chr11:48977834-48977884	AG09309	skin:	n/a
4	chr11:48977834-48977884	AG04449	skin:	fetal
5	chr11:48977834-48977884	PrEC	prostate:	n/a
6	chr11:48977834-48977884	SKMC	muscle:	n/a
7	chr11:48977834-48977884	GM06990	blood:	n/a
8	chr11:48977834-48977884	HRCEpiC	kidney:	n/a
9	chr11:48977834-48977884	SK-N-SH	brain:	n/a
10	chr11:48977834-48977884	NT2-D1	testis:	n/a
11	chr11:48977834-48977884	AG04450	lung:	fetal
12	chr11:48977834-48977884	IMR90	lung:	fetal
13	chr11:48977834-48977884	Hela-S3	cervix:	n/a
14	chr11:48977834-48977884	RPTEC	kidney:	n/a
15	chr11:48977834-48977884	HMEC	breast:	n/a
16	chr11:48977834-48977884	NB4	blood:	n/a
17	chr11:48977834-48977884	NHBE	bronchial:	n/a
18	chr11:48977834-48977884	ECC-1	luminal epithelium:	n/a
19	chr11:48977834-48977884	SK-N-MC	brain:	n/a
20	chr11:48977834-48977884	NH-A	brain:	n/a
21	chr11:48977834-48977884	NHDF-neo	bronchial:	n/a
22	chr11:48977834-48977884	BE2_C	brain:	n/a
23	chr11:48977834-48977884	HCT-116	colon:	n/a
24	chr11:48977834-48977884	PANC-1	pancreas:	n/a
25	chr11:48977834-48977884	ProgFib	skin:	n/a
26	chr11:48977834-48977884	HepG2	liver:	n/a
27	chr11:48977834-48977884	GM19239	blood:	n/a
28	chr11:48977834-48977884	HCF	heart:	n/a
29	chr11:48977834-48977884	HAEpiC	amniotic membrane:	n/a
30	chr11:48977834-48977884	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:48977834-48977884	HNPCEpiC	eye:	n/a
32	chr11:48977834-48977884	SK-N-SH_RA	brain:	n/a
33	chr11:48977834-48977884	A549	lung:	n/a
34	chr11:48977834-48977884	PFSK-1	brain:	n/a
35	chr11:48977834-48977884	AG10803	skin:	n/a
36	chr11:48977834-48977884	HIPEpiC	eye:	n/a
37	chr11:48977834-48977884	HL-60	blood:	n/a
38	chr11:48977834-48977884	HEK293	kidney:	embryo
39	chr11:48977834-48977884	HRE	kidney:	n/a
40	chr11:48977834-48977884	GM12891	blood:	n/a
41	chr11:48977834-48977884	HCPEpiC	choroid plexus:	n/a
42	chr11:48977834-48977884	HEEpiC	esophagus:	n/a
43	chr11:48977834-48977884	MCF-7	breast:	n/a
44	chr11:48977834-48977884	T-47D	breast:	n/a
45	chr11:48977834-48977884	CMK	blood:	n/a
46	chr11:48977834-48977884	HCM	heart:	n/a
47	chr11:48977834-48977884	Caco-2	colon:	n/a
48	chr11:48977834-48977884	AG09319	gingival:	n/a
49	chr11:48977834-48977884	BJ	skin:	n/a
50	chr11:48977834-48977884	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000254517	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759824	chr11:48303671-49185190	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv2757441	chr11:48365757-49068634	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv870316	chr11:48375512-48983930	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv897358	chr11:48658170-48987539	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050780	chr11:48674931-48989643	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv897367	chr11:48694871-48987539	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1044650	chr11:48709716-49000305	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv897376	chr11:48719507-49027070	Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1047266	chr11:48721744-48989643	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1828260	chr11:48735614-49162948	Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv897393	chr11:48765567-49009877	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv427886	chr11:48850348-49185190	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	esv2758268	chr11:48856977-49185190	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv2760205	chr11:48886523-49006938	Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv897403	chr11:48901553-48987539	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv897404	chr11:48901553-49003921	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv897407	chr11:48911660-48987539	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv554325	chr11:48911660-49030187	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	nsv897412	chr11:48924826-48987539	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv897413	chr11:48924826-49003921	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv897426	chr11:48929921-48978778	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv897427	chr11:48929921-48987539	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv897428	chr11:48929921-49003921	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv897429	chr11:48929921-49009877	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv897430	chr11:48929921-49042866	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv897431	chr11:48929921-49068145	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv897439	chr11:48931739-48978778	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	nsv897442	chr11:48933763-49027070	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv897448	chr11:48935934-48987539	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv897453	chr11:48937824-48987539	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv897454	chr11:48937824-49003921	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv897460	chr11:48939960-48987539	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv897461	chr11:48939960-49003921	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv897465	chr11:48941067-48987539	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
36	nsv897466	chr11:48941067-49003921	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
37	nsv971943	chr11:48973895-48981528	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv975842	chr11:48973895-48982727	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv975107	chr11:48973895-48984531	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
40	esv3371857	chr11:48976001-48978549	Inactive region	TF binding region CpG island	1 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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