Variant report

Variant	rs577950453
Chromosome Location	chr22:30116097-30116098
allele	G/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	chr22:30115947-30116181	SK-N-SH	brain:	n/a	chr22:30116082-30116100
2	UBTF	chr22:30116004-30116146	K562	blood:	n/a	n/a
3	SUZ12	chr22:30115076-30117639	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
ENSG00000232396	TF binding region
ENSG00000239446	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	chr22:30112800-30116600	Weak transcription	Pancreas	Pancrea
2	chr22:30115000-30116200	Bivalent Enhancer	Spleen	Spleen
3	chr22:30115400-30116600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr22:30115400-30117200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:30115400-30118600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr22:30115600-30116600	Bivalent Enhancer	Placenta	Placenta
7	chr22:30115600-30117000	Active TSS	Fetal Brain Female	brain
8	chr22:30115600-30117200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr22:30115600-30117200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr22:30115600-30117200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:30115600-30117200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:30115600-30117200	Active TSS	Right Atrium	heart
13	chr22:30115600-30117200	Bivalent/Poised TSS	HepG2	liver
14	chr22:30115800-30116400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:30115800-30116400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:30115800-30116400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:30115800-30116400	Active TSS	Ovary	ovary
18	chr22:30115800-30116400	Weak transcription	A549	lung
19	chr22:30115800-30116600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr22:30115800-30116600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:30115800-30116600	Bivalent/Poised TSS	Right Ventricle	heart
22	chr22:30115800-30116800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:30115800-30116800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:30115800-30116800	Active TSS	Psoas Muscle	Psoas
25	chr22:30115800-30116800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr22:30115800-30117000	Bivalent/Poised TSS	Thymus	Thymus
27	chr22:30115800-30117200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr22:30115800-30117200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr22:30115800-30117200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr22:30115800-30126200	Weak transcription	Gastric	stomach
31	chr22:30116000-30116200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:30116000-30116200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
33	chr22:30116000-30116200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr22:30116000-30116400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:30116000-30116400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr22:30116000-30116400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
37	chr22:30116000-30116600	Bivalent/Poised TSS	HMEC	breast
38	chr22:30116000-30117000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:30116000-30117000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:30116000-30117000	Active TSS	HSMM	muscle
41	chr22:30116000-30117200	Enhancers	Lung	lung

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