Variant report

Variant	rs560504661
Chromosome Location	chr22:30115572-30115573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr22:30114792-30115577	SK-N-SH	brain:	n/a	chr22:30115462-30115475
2	SUZ12	chr22:30115076-30117639	NT2-D1	testis:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZMAT5-1	chr22:30115537-30115737	XLOC_014338
2	lnc-ZMAT5-1	chr22:30115558-30115703	XLOC_014338
3	lnc-ZMAT5-1	chr22:30115537-30115848	XLOC_014338
4	lnc-ZMAT5-1	chr22:30115537-30115756	NONHSAT084729

Variant related genes	Relation type
CABP7	TF binding region

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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
10	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3526937	chr22:30114552-30117950	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3526938	chr22:30114552-30117950	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv3398420	chr22:30115152-30117775	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv3400132	chr22:30115377-30118325	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30098800-30115600	Weak transcription	Right Atrium	heart
2	chr22:30112800-30116600	Weak transcription	Pancreas	Pancrea
3	chr22:30114400-30115800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:30114800-30115600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:30114800-30115600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:30114800-30115800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:30114800-30115800	Bivalent Enhancer	Right Ventricle	heart
8	chr22:30114800-30115800	Enhancers	A549	lung
9	chr22:30115000-30115600	Flanking Active TSS	Fetal Brain Female	brain
10	chr22:30115000-30115800	Enhancers	Gastric	stomach
11	chr22:30115000-30116200	Bivalent Enhancer	Spleen	Spleen
12	chr22:30115200-30115600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr22:30115200-30115600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:30115200-30115600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:30115200-30115600	Bivalent Enhancer	HepG2	liver
16	chr22:30115200-30115800	Bivalent Enhancer	Colon Smooth Muscle	Colon
17	chr22:30115200-30115800	Bivalent Enhancer	Esophagus	oesophagus
18	chr22:30115200-30116000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr22:30115200-30116000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
20	chr22:30115400-30115600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr22:30115400-30115600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
22	chr22:30115400-30115600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr22:30115400-30115600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:30115400-30115600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr22:30115400-30115600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
26	chr22:30115400-30115600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:30115400-30115600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:30115400-30115800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr22:30115400-30115800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr22:30115400-30115800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:30115400-30115800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:30115400-30115800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:30115400-30115800	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr22:30115400-30115800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
35	chr22:30115400-30115800	Enhancers	Fetal Brain Male	brain
36	chr22:30115400-30115800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr22:30115400-30115800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr22:30115400-30116000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr22:30115400-30116600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr22:30115400-30117200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:30115400-30118600	Active TSS	Pancreatic Islets	Pancreatic Islet

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