Variant report

Variant	rs565797160
Chromosome Location	chr22:30782255-30782256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr22:30782206-30783972	IMR90	lung:	n/a	n/a
2	MXI1	chr22:30781943-30783849	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30780810..30782737-chr22:30819771..30822166,2	MCF-7	breast:
2	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
3	chr22:30682486..30684766-chr22:30780472..30782448,3	K562	blood:
4	chr22:30780386..30782265-chr22:30815840..30818586,2	MCF-7	breast:
5	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
6	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
7	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
8	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
9	chr22:30768241..30771846-chr22:30779941..30783662,3	MCF-7	breast:
10	chr22:30660277..30662001-chr22:30780639..30782477,2	MCF-7	breast:
11	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:

No data

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000222915	Chromatin interaction
ENSG00000099985	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000273350	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	esv3376959	chr22:30782102-30785000	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3374389	chr22:30782177-30784725	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
2	chr22:30762000-30782400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:30772000-30783000	Weak transcription	Small Intestine	intestine
4	chr22:30774200-30782400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:30774200-30782400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:30774400-30782400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr22:30776600-30782400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:30777000-30782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:30777800-30782400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr22:30778000-30782400	Weak transcription	Aorta	Aorta
11	chr22:30779400-30782400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:30779600-30782400	Weak transcription	Left Ventricle	heart
13	chr22:30780400-30782400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30780400-30782400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:30780400-30782400	Weak transcription	NHEK	skin
16	chr22:30780800-30782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:30781800-30782400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:30781800-30782400	Enhancers	Brain Germinal Matrix	brain
19	chr22:30781800-30782400	Enhancers	Fetal Muscle Trunk	muscle
20	chr22:30781800-30782400	Genic enhancers	Fetal Stomach	stomach
21	chr22:30781800-30782600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:30781800-30782600	Genic enhancers	Fetal Intestine Small	intestine
23	chr22:30781800-30782800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr22:30781800-30782800	Enhancers	Fetal Thymus	thymus
25	chr22:30782000-30782400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:30782000-30782400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr22:30782000-30782400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:30782000-30782400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:30782000-30782400	Enhancers	Adipose Nuclei	Adipose
30	chr22:30782000-30782400	Enhancers	Liver	Liver
31	chr22:30782000-30782400	Enhancers	Brain Angular Gyrus	brain
32	chr22:30782000-30782400	Enhancers	Brain Hippocampus Middle	brain
33	chr22:30782000-30782400	Enhancers	Colonic Mucosa	Colon
34	chr22:30782000-30782400	Enhancers	Pancreas	Pancrea
35	chr22:30782000-30782400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:30782000-30782400	Active TSS	Hela-S3	cervix
37	chr22:30782000-30782400	Enhancers	HepG2	liver
38	chr22:30782000-30782400	Enhancers	NH-A	brain
39	chr22:30782000-30782600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr22:30782000-30782600	Enhancers	Colon Smooth Muscle	Colon
41	chr22:30782000-30782600	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:30782000-30782600	Enhancers	Fetal Brain Male	brain
43	chr22:30782000-30782600	Enhancers	Placenta	Placenta
44	chr22:30782000-30782800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:30782000-30782800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:30782000-30782800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:30782000-30782800	Flanking Active TSS	Osteobl	bone
48	chr22:30782000-30783000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:30782000-30783000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr22:30782000-30783000	Flanking Active TSS	Dnd41	blood

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