Variant report

Variant	rs566213570
Chromosome Location	chr2:96256738-96256739
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:96256612-96256787	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96256727-96256777	A549	lung:	n/a
2	chr2:96256727-96256777	HL-60	blood:	n/a
3	chr2:96256727-96256777	HCF	heart:	n/a
4	chr2:96256727-96256777	HRPEpiC	eye:	n/a
5	chr2:96256727-96256777	AoSMC	blood vessel:	n/a
6	chr2:96256727-96256777	AG09319	gingival:	n/a
7	chr2:96256727-96256777	HCM	heart:	n/a
8	chr2:96256727-96256777	HRE	kidney:	n/a
9	chr2:96256727-96256777	HRCEpiC	kidney:	n/a
10	chr2:96256727-96256777	Hepatocyte	liver:	n/a
11	chr2:96256727-96256777	ECC-1	luminal epithelium:	n/a
12	chr2:96256727-96256777	HAEpiC	amniotic membrane:	n/a
13	chr2:96256727-96256777	CMK	blood:	n/a
14	chr2:96256727-96256777	NH-A	brain:	n/a
15	chr2:96256727-96256777	NHDF-neo	bronchial:	n/a
16	chr2:96256727-96256777	NHBE	bronchial:	n/a
17	chr2:96256727-96256777	GM06990	blood:	n/a
18	chr2:96256727-96256777	NB4	blood:	n/a
19	chr2:96256727-96256777	SK-N-MC	brain:	n/a
20	chr2:96256727-96256777	K562	blood:	n/a
21	chr2:96256727-96256777	HNPCEpiC	eye:	n/a
22	chr2:96256727-96256777	GM12878	blood:	n/a
23	chr2:96256727-96256777	HCPEpiC	choroid plexus:	n/a
24	chr2:96256727-96256777	PANC-1	pancreas:	n/a
25	chr2:96256727-96256777	BE2_C	brain:	n/a
26	chr2:96256727-96256777	Jurkat	blood:	n/a
27	chr2:96256727-96256777	NT2-D1	testis:	n/a
28	chr2:96256727-96256777	SK-N-SH	brain:	n/a
29	chr2:96256727-96256777	AG04450	lung:	fetal
30	chr2:96256727-96256777	IMR90	lung:	fetal
31	chr2:96256727-96256777	U87	brain:	n/a
32	chr2:96256727-96256777	Hela-S3	cervix:	n/a
33	chr2:96256727-96256777	AG09309	skin:	n/a
34	chr2:96256727-96256777	HMEC	breast:	n/a
35	chr2:96256727-96256777	PrEC	prostate:	n/a
36	chr2:96256727-96256777	AG10803	skin:	n/a
37	chr2:96256727-96256777	HEEpiC	esophagus:	n/a
38	chr2:96256727-96256777	SAEC	small airway:	n/a
39	chr2:96256727-96256777	ovcar-3	ovarian:	n/a
40	chr2:96256727-96256777	GM12892	blood:	n/a
41	chr2:96256727-96256777	T-47D	breast:	n/a
42	chr2:96256727-96256777	GM12891	blood:	n/a
43	chr2:96256727-96256777	HIPEpiC	eye:	n/a
44	chr2:96256727-96256777	HEK293	kidney:	embryo
45	chr2:96256727-96256777	AG04449	skin:	fetal
46	chr2:96256727-96256777	LNCaP	prostate:	n/a
47	chr2:96256727-96256777	MCF-7	breast:	n/a
48	chr2:96256727-96256777	HepG2	liver:	n/a
49	chr2:96256727-96256777	RPTEC	kidney:	n/a
50	chr2:96256727-96256777	ProgFib	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36C-7	chr2:96256717-96256954	NONHSAT072500

No data

Variant related genes	Relation type
TRIM43	TF binding region
TRIM43	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv834300	chr2:96087967-96337557	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv1001305	chr2:96161688-96259200	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1008062	chr2:96166970-96259200	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv998984	chr2:96166970-96290275	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv998587	chr2:96170558-96378228	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1008461	chr2:96206863-96296630	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv961830	chr2:96255256-96329560	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	9 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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