Variant report

Variant	rs111267155
Chromosome Location	chr22:30783010-30783011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30782960-30783110	HRPEpiC	eye:	n/a	n/a
2	CTCF	chr22:30783005-30783071	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:30782858-30783080	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr22:30782980-30783130	GM12874	blood:	n/a	n/a
5	SIN3A	chr22:30782727-30783777	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr22:30782980-30783130	HMF	breast:	n/a	n/a
7	POLR2A	chr22:30782864-30783291	GM12892	blood:	n/a	n/a
8	CTCF	chr22:30782900-30783050	AoAF	blood vessel:	n/a	n/a
9	MAZ	chr22:30782923-30783659	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr22:30782824-30783480	HCT-116	colon:	n/a	n/a
11	POLR2A	chr22:30782920-30783277	GM12878	blood:	n/a	n/a
12	CTCF	chr22:30782900-30783050	HEK293	kidney:	n/a	n/a
13	CTCF	chr22:30782934-30783135	HepG2	liver:	n/a	n/a
14	POLR2A	chr22:30782693-30783436	MCF-7	breast:	n/a	n/a
15	CCNT2	chr22:30782981-30783651	K562	blood:	n/a	n/a
16	CTCF	chr22:30782860-30783010	GM12865	blood:	n/a	n/a
17	E2F4	chr22:30782978-30783170	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr22:30782920-30783070	AG09319	gingival:	n/a	n/a
19	CTCF	chr22:30783000-30783150	RPTEC	kidney:	n/a	n/a
20	POLR2A	chr22:30782858-30783153	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr22:30782868-30783165	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr22:30782819-30783725	ECC-1	luminal epithelium:	n/a	n/a
23	CTCF	chr22:30782940-30783090	GM12868	blood:	n/a	n/a
24	POLR2A	chr22:30782861-30783375	MCF-7	breast:	n/a	n/a
25	SMC3	chr22:30782783-30784052	SK-N-SH	brain:	n/a	chr22:30783491-30783501 chr22:30783823-30783833 chr22:30783491-30783505 chr22:30783819-30783833 chr22:30783715-30783722 chr22:30783498-30783505
26	CTCF	chr22:30782920-30783070	HRPEpiC	eye:	n/a	n/a
27	CREB1	chr22:30782930-30783780	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr22:30782900-30783050	GM12872	blood:	n/a	n/a
29	POLR2A	chr22:30782992-30783112	HepG2	liver:	n/a	n/a
30	POLR2A	chr22:30782918-30783733	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr22:30782969-30783110	GM12892	blood:	n/a	n/a
32	POLR2A	chr22:30782897-30783129	GM12878	blood:	n/a	n/a
33	POLR2A	chr22:30782959-30783446	A549	lung:	n/a	n/a
34	POLR2A	chr22:30782889-30783139	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr22:30782910-30783125	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr22:30782980-30783130	Caco-2	colon:	n/a	n/a
37	CTCF	chr22:30782920-30783070	GM06990	blood:	n/a	n/a
38	CTCF	chr22:30782980-30783130	SK-N-SH_RA	brain:	n/a	n/a
39	POLR2A	chr22:30782952-30783410	A549	lung:	n/a	n/a
40	CTCF	chr22:30782920-30783070	GM12866	blood:	n/a	n/a
41	HEY1	chr22:30782880-30783138	K562	blood:	n/a	n/a
42	CTCF	chr22:30782940-30783090	GM12871	blood:	n/a	n/a
43	CTCF	chr22:30782996-30783096	GM19240	blood:	n/a	n/a
44	CTCF	chr22:30782940-30783090	GM12867	blood:	n/a	n/a
45	CTCF	chr22:30782960-30783110	GM12870	blood:	n/a	n/a
46	CTCF	chr22:30782976-30783104	Spleen_OC	spleen:	n/a	n/a
47	MAX	chr22:30782926-30783235	K562	blood:	n/a	n/a
48	CTCF	chr22:30782880-30783030	HRE	kidney:	n/a	n/a
49	POLR2A	chr22:30782817-30783218	U87	brain:	n/a	n/a
50	CTCF	chr22:30782940-30783090	HUVEC	blood vessel:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
2	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:
3	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
4	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
5	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
6	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
7	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
8	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
9	chr22:30768241..30771846-chr22:30779941..30783662,3	MCF-7	breast:
10	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:

No data

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000099985	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000239282	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30782200-30783600	Enhancers	Fetal Heart	heart
2	chr22:30782200-30783800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr22:30782200-30784000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr22:30782400-30783200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr22:30782400-30783400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:30782400-30783600	Active TSS	Psoas Muscle	Psoas
7	chr22:30782400-30783800	Enhancers	Primary T cells from cord blood	blood
8	chr22:30782400-30783800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr22:30782600-30783200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr22:30782600-30783400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr22:30782600-30783800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr22:30782600-30783800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr22:30782600-30783800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:30782600-30783800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:30782600-30783800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:30782600-30783800	Active TSS	Fetal Kidney	kidney
17	chr22:30782800-30783200	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr22:30782800-30783200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr22:30782800-30783200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:30782800-30783200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:30782800-30783200	Flanking Active TSS	Fetal Thymus	thymus
22	chr22:30782800-30783200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
23	chr22:30782800-30783400	Active TSS	Gastric	stomach
24	chr22:30782800-30783400	Active TSS	Left Ventricle	heart
25	chr22:30782800-30783400	Active TSS	Lung	lung
26	chr22:30782800-30783400	Active TSS	Spleen	Spleen
27	chr22:30782800-30783600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:30782800-30783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:30782800-30783600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:30782800-30783600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:30782800-30783600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:30782800-30783600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:30782800-30783600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:30782800-30783600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr22:30782800-30783600	Active TSS	Muscle Satellite Cultured Cells	--
36	chr22:30782800-30783600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:30782800-30783600	Active TSS	Aorta	Aorta
38	chr22:30782800-30783600	Active TSS	Brain Angular Gyrus	brain
39	chr22:30782800-30783600	Active TSS	Brain Anterior Caudate	brain
40	chr22:30782800-30783600	Active TSS	Brain Cingulate Gyrus	brain
41	chr22:30782800-30783600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr22:30782800-30783600	Active TSS	Colonic Mucosa	Colon
43	chr22:30782800-30783600	Active TSS	Esophagus	oesophagus
44	chr22:30782800-30783600	Active TSS	Fetal Brain Female	brain
45	chr22:30782800-30783600	Active TSS	Fetal Lung	lung
46	chr22:30782800-30783600	Active TSS	Fetal Stomach	stomach
47	chr22:30782800-30783600	Active TSS	Pancreas	Pancrea
48	chr22:30782800-30783600	Active TSS	Rectal Smooth Muscle	rectum
49	chr22:30782800-30783600	Active TSS	Right Atrium	heart
50	chr22:30782800-30783600	Bivalent/Poised TSS	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links