Variant report

Variant	rs142722318
Chromosome Location	chr3:139649460-139649461
allele	C/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:1)
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	chr3:139649460-139649510	HCM	heart:	n/a
2	chr3:139649460-139649510	HAEpiC	amniotic membrane:	n/a
3	chr3:139649460-139649510	HCT-116	colon:	n/a
4	chr3:139649460-139649510	SK-N-SH	brain:	n/a
5	chr3:139649460-139649510	BE2_C	brain:	n/a
6	chr3:139649460-139649510	HRPEpiC	eye:	n/a
7	chr3:139649460-139649510	NHBE	bronchial:	n/a
8	chr3:139649460-139649510	A549	lung:	n/a
9	chr3:139649460-139649510	HUVEC	blood vessel:	n/a
10	chr3:139649460-139649510	HNPCEpiC	eye:	n/a
11	chr3:139649460-139649510	PFSK-1	brain:	n/a
12	chr3:139649460-139649510	ovcar-3	ovarian:	n/a
13	chr3:139649460-139649510	PrEC	prostate:	n/a
14	chr3:139649460-139649510	K562	blood:	n/a
15	chr3:139649460-139649510	Hela-S3	cervix:	n/a
16	chr3:139649460-139649510	PANC-1	pancreas:	n/a
17	chr3:139649460-139649510	ECC-1	luminal epithelium:	n/a
18	chr3:139649460-139649510	HCPEpiC	choroid plexus:	n/a
19	chr3:139649460-139649510	HEK293	kidney:	embryo
20	chr3:139649460-139649510	RPTEC	kidney:	n/a
21	chr3:139649460-139649510	NB4	blood:	n/a
22	chr3:139649460-139649510	AG09309	skin:	n/a
23	chr3:139649460-139649510	SK-N-SH_RA	brain:	n/a
24	chr3:139649460-139649510	AoSMC	blood vessel:	n/a
25	chr3:139649460-139649510	U87	brain:	n/a
26	chr3:139649460-139649510	HMEC	breast:	n/a
27	chr3:139649460-139649510	SK-N-MC	brain:	n/a
28	chr3:139649460-139649510	HIPEpiC	eye:	n/a
29	chr3:139649460-139649510	BJ	skin:	n/a
30	chr3:139649460-139649510	Jurkat	blood:	n/a
31	chr3:139649460-139649510	HPAEpiC	pulmonary alveolar:	n/a
32	chr3:139649460-139649510	ProgFib	skin:	n/a
33	chr3:139649460-139649510	MCF-7	breast:	n/a
34	chr3:139649460-139649510	CMK	blood:	n/a
35	chr3:139649460-139649510	GM19239	blood:	n/a
36	chr3:139649460-139649510	AG04450	lung:	fetal
37	chr3:139649460-139649510	GM12891	blood:	n/a
38	chr3:139649460-139649510	Caco-2	colon:	n/a
39	chr3:139649460-139649510	NHDF-neo	bronchial:	n/a
40	chr3:139649460-139649510	HRE	kidney:	n/a
41	chr3:139649460-139649510	GM12892	blood:	n/a
42	chr3:139649460-139649510	AG04449	skin:	fetal
43	chr3:139649460-139649510	HEEpiC	esophagus:	n/a
44	chr3:139649460-139649510	HCF	heart:	n/a
45	chr3:139649460-139649510	NH-A	brain:	n/a
46	chr3:139649460-139649510	SKMC	muscle:	n/a
47	chr3:139649460-139649510	Hepatocyte	liver:	n/a
48	chr3:139649460-139649510	HRCEpiC	kidney:	n/a
49	chr3:139649460-139649510	IMR90	lung:	fetal
50	chr3:139649460-139649510	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139645968..139647481-chr3:139648116..139649820,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLSTN2	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv877544	chr3:139642572-139688415	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv520875	chr3:139648326-139649663	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1798342	chr3:139648874-139654211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1798770	chr3:139648874-139654211	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1806386	chr3:139648874-139654211	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1821044	chr3:139648874-139654211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1822968	chr3:139648874-139654211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1832601	chr3:139648874-139654211	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1836664	chr3:139648874-139654211	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1838553	chr3:139648874-139654211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1844915	chr3:139648874-139654211	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139642800-139651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:139648000-139649600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:139648800-139649600	Enhancers	HMEC	breast

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