Variant report

Variant	rs576631246
Chromosome Location	chr22:29877475-29877476
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	MXI1	chr22:29875358-29878062	SK-N-SH	brain:	n/a	chr22:29877653-29877662
2	POLR2A	chr22:29876718-29877888	K562	blood:	n/a	n/a
3	E2F4	chr22:29876629-29877509	K562	blood:	n/a	chr22:29877137-29877146
4	CTCF	chr22:29876805-29877527	K562	blood:	n/a	chr22:29877380-29877393
5	POLR2A	chr22:29875929-29877897	K562	blood:	n/a	n/a
6	E2F6	chr22:29875674-29878117	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
7	ZNF143	chr22:29876341-29877960	H1-hESC	embryonic stem cell:	n/a	chr22:29877209-29877219
8	NRF1	chr22:29876483-29877798	SK-N-SH	brain:	n/a	chr22:29877136-29877147 chr22:29877136-29877150
9	MYC	chr22:29876181-29877973	K562	blood:	n/a	chr22:29877654-29877663
10	MAX	chr22:29876079-29877944	K562	blood:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
11	BACH1	chr22:29876282-29878043	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr22:29875801-29877672	H1-hESC	embryonic stem cell:	n/a	chr22:29877137-29877146 chr22:29876212-29876224
13	YY1	chr22:29877466-29877947	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr22:29876592-29877977	K562	blood:	n/a	chr22:29877654-29877663
15	CHD2	chr22:29876574-29877980	H1-hESC	embryonic stem cell:	n/a	chr22:29877153-29877163
16	MAX	chr22:29876147-29877975	H1-hESC	embryonic stem cell:	n/a	chr22:29877654-29877663
17	MAX	chr22:29875631-29878091	H1-hESC	embryonic stem cell:	n/a	chr22:29876117-29876127 chr22:29877654-29877663
18	JUN	chr22:29876546-29877482	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29877072..29879814-chr22:29891846..29894236,2	MCF-7	breast:
2	chr22:29877350..29878233-chr22:29913108..29913740,2	MCF-7	breast:
3	chr22:29876809..29879806-chr22:29881526..29883122,2	K562	blood:
4	chr22:29781578..29782726-chr22:29877337..29878344,7	MCF-7	breast:
5	chr22:29877412..29878391-chr22:29912701..29914203,38	MCF-7	breast:
6	chr22:29877386..29878406-chr22:29912849..29914254,52	MCF-7	breast:
7	chr22:29876640..29878874-chr22:29919748..29922123,2	K562	blood:
8	chr22:29865857..29867643-chr22:29876448..29878393,2	MCF-7	breast:
9	chr22:29877043..29879359-chr22:29911623..29914922,6	MCF-7	breast:
10	chr22:29877422..29878326-chr22:29912754..29914005,18	MCF-7	breast:
11	chr22:29663630..29665723-chr22:29877193..29880137,2	K562	blood:

Variant related genes	Relation type
RFPL1S	TF binding region
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	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
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1062039	chr22:29854861-29889201	Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv438344	chr22:29856079-29886043	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Strong transcription 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	esv3371117	chr22:29874452-29879050	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
12	nsv524511	chr22:29877417-29877625	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29873800-29877800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
2	chr22:29873800-29877800	Bivalent Enhancer	Placenta	Placenta
3	chr22:29874400-29877600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:29874400-29877600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr22:29874600-29878000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
6	chr22:29874800-29877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
7	chr22:29875000-29878000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr22:29875200-29877600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr22:29875600-29877600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr22:29875600-29877600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:29875600-29877600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr22:29875600-29877800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr22:29875800-29877600	Flanking Bivalent TSS/Enh	HMEC	breast
16	chr22:29875800-29877800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr22:29875800-29878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr22:29875800-29878000	Enhancers	Pancreas	Pancrea
20	chr22:29875800-29878000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr22:29875800-29878200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29875800-29878200	Bivalent Enhancer	Fetal Lung	lung
23	chr22:29875800-29878200	Flanking Active TSS	Ovary	ovary
24	chr22:29876000-29877600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:29876000-29877600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr22:29876000-29877600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:29876000-29877600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:29876000-29877600	Active TSS	K562	blood
29	chr22:29876000-29877800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29876000-29877800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:29876000-29878000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr22:29876000-29878200	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr22:29876200-29877600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:29876200-29878000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:29876400-29877600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr22:29876400-29877600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:29876400-29877800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
38	chr22:29876400-29877800	Bivalent Enhancer	HUVEC	blood vessel
39	chr22:29876600-29877600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr22:29876600-29877800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr22:29876600-29878000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:29876600-29878200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr22:29876800-29877800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:29876800-29878000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr22:29877000-29877600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:29877000-29877600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr22:29877000-29877800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr22:29877000-29877800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr22:29877000-29877800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr22:29877000-29877800	Bivalent Enhancer	Fetal Thymus	thymus

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