Variant report

Variant	rs568781374
Chromosome Location	chr18:12990224-12990225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr18:12990166-12992232	K562	blood:	n/a	n/a
2	MAX	chr18:12990120-12990460	GM12878	blood:	n/a	n/a
3	PML	chr18:12989969-12990523	K562	blood:	n/a	n/a
4	POLR2A	chr18:12990194-12990366	ProgFib	skin:	n/a	n/a
5	RCOR1	chr18:12989893-12992146	K562	blood:	n/a	n/a
6	POLR2A	chr18:12989157-12991987	K562	blood:	n/a	n/a
7	MAX	chr18:12990028-12991918	K562	blood:	n/a	n/a
8	MYC	chr18:12990123-12991940	K562	blood:	n/a	n/a
9	POLR2A	chr18:12989077-12992444	GM12878	blood:	n/a	n/a
10	POLR2A	chr18:12990123-12990510	HepG2	liver:	n/a	n/a
11	POLR2A	chr18:12989939-12990542	K562	blood:	n/a	n/a
12	STAT5A	chr18:12990014-12991610	K562	blood:	n/a	n/a
13	POLR2A	chr18:12989897-12992092	GM12878	blood:	n/a	n/a
14	RELA	chr18:12990159-12992010	GM12891	blood:	n/a	n/a
15	POLR2A	chr18:12989911-12992032	GM12891	blood:	n/a	n/a
16	POLR2A	chr18:12989656-12992325	U87	brain:	n/a	n/a
17	STAT5A	chr18:12989946-12991180	GM12878	blood:	n/a	n/a
18	NFATC1	chr18:12989869-12990671	GM12878	blood:	n/a	chr18:12990092-12990106
19	POLR2A	chr18:12988809-12992393	GM12891	blood:	n/a	n/a
20	POLR2A	chr18:12989980-12992075	GM12891	blood:	n/a	n/a
21	BCLAF1	chr18:12990039-12990532	GM12878	blood:	n/a	n/a
22	POLR2A	chr18:12989551-12991973	K562	blood:	n/a	n/a
23	POLR2A	chr18:12989952-12992100	PBDE	blood:	n/a	n/a
24	POLR2A	chr18:12989647-12992015	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr18:12990209-12990336	GM12878	blood:	n/a	n/a
26	POLR2A	chr18:12990131-12991964	K562	blood:	n/a	n/a
27	POLR2A	chr18:12987789-12992309	HepG2	liver:	n/a	n/a
28	POLR2A	chr18:12989539-12992068	MCF-7	breast:	n/a	n/a
29	POLR2A	chr18:12990127-12992167	GM12892	blood:	n/a	n/a
30	IRF1	chr18:12989831-12990326	K562	blood:	n/a	n/a
31	EGR1	chr18:12990112-12990355	GM12878	blood:	n/a	n/a
32	POLR2A	chr18:12990158-12992144	GM19099	blood:	n/a	n/a
33	POLR2A	chr18:12989864-12992038	PFSK-1	brain:	n/a	n/a
34	BCLAF1	chr18:12990011-12990711	GM12878	blood:	n/a	n/a
35	MYC	chr18:12990159-12991809	K562	blood:	n/a	n/a
36	POLR2A	chr18:12989755-12992218	HepG2	liver:	n/a	n/a
37	POLR2A	chr18:12990097-12990440	GM12878	blood:	n/a	n/a
38	POLR2A	chr18:12989181-12992009	PFSK-1	brain:	n/a	n/a
39	RUNX3	chr18:12989958-12991918	GM12878	blood:	n/a	chr18:12990336-12990351 chr18:12990311-12990326
40	POLR2A	chr18:12989665-12992592	GM12878	blood:	n/a	n/a
41	WRNIP1	chr18:12990133-12990438	GM12878	blood:	n/a	n/a
42	POLR2A	chr18:12990190-12990342	A549	lung:	n/a	n/a
43	MAX	chr18:12990102-12992043	K562	blood:	n/a	n/a
44	POU2F2	chr18:12990041-12990497	GM12891	blood:	n/a	n/a
45	POLR2A	chr18:12990084-12990571	Hela-S3	cervix:	n/a	n/a
46	FOSL2	chr18:12990047-12990439	HepG2	liver:	n/a	n/a
47	MTA3	chr18:12989868-12992246	GM12878	blood:	n/a	n/a
48	MAZ	chr18:12990224-12991816	GM12878	blood:	n/a	n/a
49	MYC	chr18:12990157-12992031	K562	blood:	n/a	n/a
50	POLR2A	chr18:12989992-12992150	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:12988791..12990408-chr18:13028721..13030724,2	K562	blood:
2	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
3	chr18:12971249..12974224-chr18:12989349..12991861,2	MCF-7	breast:
4	chr18:12701527..12703834-chr18:12990213..12992610,2	K562	blood:
5	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
6	chr18:12945869..12950267-chr18:12985686..12992743,10	MCF-7	breast:
7	chr18:12989546..12991386-chr18:13006007..13008502,2	K562	blood:
8	chr18:12990085..12990987-chr19:39899874..39900479,2	Hela-S3	cervix:
9	chr18:12977438..12979296-chr18:12990126..12991644,2	K562	blood:
10	chr18:12977796..12979633-chr18:12990126..12992980,2	K562	blood:

No data

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000101639	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000101624	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	esv3395285	chr18:12988952-12991750	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12976400-12990400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:12976600-12990400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:12976600-12990800	Weak transcription	Aorta	Aorta
4	chr18:12977400-12990600	Weak transcription	HSMMtube	muscle
5	chr18:12983600-12990400	Weak transcription	Fetal Brain Female	brain
6	chr18:12983600-12990400	Weak transcription	Fetal Stomach	stomach
7	chr18:12984200-12990400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:12984200-12990400	Weak transcription	Brain Germinal Matrix	brain
9	chr18:12984200-12990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:12984200-12990600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr18:12984400-12990400	Weak transcription	Colonic Mucosa	Colon
12	chr18:12985600-12990400	Weak transcription	Fetal Intestine Large	intestine
13	chr18:12985600-12990400	Weak transcription	Placenta	Placenta
14	chr18:12985600-12990400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:12985600-12990600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr18:12987200-12990400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:12987400-12990400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:12987600-12990400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:12989000-12990400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:12989400-12990600	Enhancers	Psoas Muscle	Psoas
21	chr18:12989400-12991000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr18:12989600-12992400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr18:12989800-12990600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr18:12989800-12990600	Flanking Active TSS	K562	blood
25	chr18:12989800-12990800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:12990000-12990400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:12990000-12990400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:12990000-12990400	Enhancers	Primary hematopoietic stem cells	blood
29	chr18:12990000-12990400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr18:12990000-12990400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:12990000-12990400	Enhancers	Brain Substantia Nigra	brain
32	chr18:12990000-12990400	Enhancers	Colon Smooth Muscle	Colon
33	chr18:12990000-12990400	Enhancers	Fetal Thymus	thymus
34	chr18:12990000-12990400	Enhancers	Thymus	Thymus
35	chr18:12990000-12990600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr18:12990000-12990600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr18:12990000-12990600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr18:12990000-12990600	Enhancers	Fetal Heart	heart
39	chr18:12990000-12990600	Enhancers	Stomach Mucosa	stomach
40	chr18:12990000-12990600	Flanking Active TSS	GM12878-XiMat	blood
41	chr18:12990000-12990800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:12990000-12990800	Flanking Active TSS	Dnd41	blood
43	chr18:12990000-12990800	Flanking Active TSS	Hela-S3	cervix
44	chr18:12990000-12990800	Flanking Active TSS	NHEK	skin
45	chr18:12990000-12991000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr18:12990000-12991200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr18:12990200-12990400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:12990200-12990400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
49	chr18:12990200-12990400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:12990200-12990400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links