Variant report

Variant	rs540048206
Chromosome Location	chr22:30969986-30969987
allele	A/G
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	POLR2A	chr22:30967837-30970461	Hela-S3	cervix:	n/a	n/a
2	SP1	chr22:30969784-30970339	A549	lung:	n/a	chr22:30970285-30970299
3	POLR2A	chr22:30969312-30970369	K562	blood:	n/a	n/a
4	POLR2A	chr22:30969819-30972027	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:30969745-30970209	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF12	chr22:30969801-30970209	A549	lung:	n/a	n/a
7	POLR2A	chr22:30969231-30970548	GM12891	blood:	n/a	n/a
8	POLR2A	chr22:30969654-30970407	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:30969258-30970396	GM12891	blood:	n/a	n/a
10	CTCF	chr22:30969980-30970130	BE2_C	brain:	n/a	n/a
11	SP1	chr22:30969865-30970389	A549	lung:	n/a	chr22:30970285-30970299
12	MXI1	chr22:30969505-30970562	HepG2	liver:	n/a	n/a
13	POLR2A	chr22:30969812-30970478	GM12878	blood:	n/a	n/a
14	RCOR1	chr22:30969977-30970275	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:30969881-30970702	A549	lung:	n/a	n/a
16	MAX	chr22:30968748-30970564	A549	lung:	n/a	chr22:30968918-30968928
17	CHD2	chr22:30969929-30970176	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:
2	chr22:30968308..30971950-chr22:30982173..30985267,5	K562	blood:
3	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3377293	chr22:30969852-30971750	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30964400-30970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30964400-30979600	Weak transcription	K562	blood
3	chr22:30965600-30971000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:30967000-30970200	Enhancers	Liver	Liver
5	chr22:30967000-30971600	Enhancers	Placenta	Placenta
6	chr22:30967600-30970600	Weak transcription	Right Atrium	heart
7	chr22:30967800-30970200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:30967800-30970200	Flanking Active TSS	HepG2	liver
9	chr22:30967800-30971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:30968000-30971600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30968200-30970000	Flanking Active TSS	A549	lung
12	chr22:30968200-30970200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:30968400-30970000	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr22:30968400-30970200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr22:30968400-30971200	Weak transcription	Dnd41	blood
16	chr22:30968600-30971200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:30968800-30970000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr22:30968800-30970200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr22:30968800-30970200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr22:30968800-30971000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr22:30968800-30971200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:30968800-30971200	Weak transcription	HMEC	breast
23	chr22:30968800-30971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:30969000-30970000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:30969000-30970000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr22:30969000-30970200	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr22:30969000-30971000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:30969000-30971200	Enhancers	Lung	lung
29	chr22:30969000-30971400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:30969000-30971600	Active TSS	Rectal Smooth Muscle	rectum
31	chr22:30969200-30970000	Enhancers	Fetal Brain Female	brain
32	chr22:30969200-30970400	Enhancers	Fetal Brain Male	brain
33	chr22:30969400-30970000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr22:30969400-30970000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:30969400-30970000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr22:30969400-30970200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:30969400-30970200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:30969400-30970200	Flanking Active TSS	Stomach Mucosa	stomach
39	chr22:30969400-30971000	Active TSS	Brain Anterior Caudate	brain
40	chr22:30969400-30971000	Weak transcription	GM12878-XiMat	blood
41	chr22:30969400-30971000	Enhancers	HSMM	muscle
42	chr22:30969600-30970000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr22:30969600-30970000	Flanking Active TSS	Colonic Mucosa	Colon
44	chr22:30969600-30970000	Active TSS	Colon Smooth Muscle	Colon
45	chr22:30969600-30970000	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr22:30969600-30970200	Enhancers	HSMMtube	muscle
47	chr22:30969600-30970400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:30969600-30970400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:30969600-30970800	Active TSS	Brain Germinal Matrix	brain
50	chr22:30969600-30971000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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