Variant report

Variant	rs539344606
Chromosome Location	chr7:56440916-56440917
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3368661	chr7:56201127-56591279	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv888065	chr7:56319050-56580547	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv1022563	chr7:56383876-57318888	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
14	esv20779	chr7:56419329-56445602	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	nsv970484	chr7:56423910-56479115	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv12623	chr7:56430567-56442841	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	esv1825908	chr7:56430775-56442787	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
18	esv1832491	chr7:56430775-56442787	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
19	esv1825463	chr7:56434057-56442439	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
20	esv1826293	chr7:56434057-56442439	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
21	esv3477246	chr7:56434534-56441270	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
22	esv3477247	chr7:56434534-56441270	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
23	esv19896	chr7:56434646-56443087	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
24	esv992296	chr7:56434811-56442942	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
25	esv1814869	chr7:56435573-56444510	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
26	esv3448449	chr7:56435658-56443856	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
27	esv3451067	chr7:56435658-56443956	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
28	esv3345417	chr7:56436358-56443856	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
29	esv3360735	chr7:56436358-56443856	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
30	esv3374306	chr7:56436358-56443856	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
31	esv3381297	chr7:56436358-56443856	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
32	esv1826541	chr7:56436896-56442439	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
33	esv3353482	chr7:56438681-56441075	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
34	esv3478411	chr7:56439537-56442179	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
35	esv3478412	chr7:56439572-56441947	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
36	esv3327581	chr7:56439590-56441183	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
37	nsv966930	chr7:56440900-56461705	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56439800-56441000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:56439800-56441000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:56439800-56441000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:56439800-56441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:56439800-56441000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:56439800-56441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:56439800-56441000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:56439800-56441000	Weak transcription	Aorta	Aorta
9	chr7:56439800-56441000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:56439800-56441000	Weak transcription	Fetal Stomach	stomach
11	chr7:56439800-56441000	Weak transcription	Gastric	stomach
12	chr7:56439800-56441000	Weak transcription	Left Ventricle	heart
13	chr7:56439800-56441000	Weak transcription	Lung	lung
14	chr7:56439800-56441000	Weak transcription	Ovary	ovary
15	chr7:56439800-56441000	Weak transcription	Right Ventricle	heart
16	chr7:56439800-56441000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:56439800-56441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:56439800-56441000	Weak transcription	Thymus	Thymus
19	chr7:56439800-56441000	Weak transcription	Spleen	Spleen
20	chr7:56439800-56441000	Weak transcription	Dnd41	blood
21	chr7:56439800-56442800	Weak transcription	Right Atrium	heart

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