Variant report

Variant	rs180818808
Chromosome Location	chr18:12885399-12885400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12882099-12885668	MCF10A-Er-Src	breast:	n/a	n/a
2	TBP	chr18:12885257-12885999	GM12878	blood:	n/a	n/a
3	MXI1	chr18:12882814-12886050	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:12882559-12886033	GM12891	blood:	n/a	n/a
5	TEAD4	chr18:12885315-12885750	K562	blood:	n/a	n/a
6	POLR2A	chr18:12882859-12886028	GM12878	blood:	n/a	n/a
7	GATA1	chr18:12885074-12885746	PBDE	blood:	n/a	chr18:12885544-12885561
8	POLR2A	chr18:12884378-12886072	GM12878	blood:	n/a	n/a
9	POLR2A	chr18:12882686-12886052	GM12878	blood:	n/a	n/a
10	POLR2A	chr18:12885282-12885654	HepG2	liver:	n/a	n/a
11	EBF1	chr18:12883735-12886127	GM12878	blood:	n/a	chr18:12884550-12884560 chr18:12885778-12885789 chr18:12885801-12885812
12	POLR2A	chr18:12885288-12885846	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr18:12885378-12885997	GM12878	blood:	n/a	n/a
14	MTA3	chr18:12885378-12886006	GM12878	blood:	n/a	n/a
15	POLR2A	chr18:12885349-12885917	GM12892	blood:	n/a	n/a
16	BHLHE40	chr18:12885061-12885968	GM12878	blood:	n/a	n/a
17	CEBPD	chr18:12885350-12885779	K562	blood:	n/a	n/a
18	POLR2A	chr18:12885398-12885794	GM12892	blood:	n/a	n/a
19	EP300	chr18:12885322-12885944	GM12878	blood:	n/a	n/a
20	POLR2A	chr18:12881458-12885635	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr18:12885366-12885857	GM12878	blood:	n/a	n/a
22	ZMIZ1	chr18:12885386-12885707	K562	blood:	n/a	n/a
23	RCOR1	chr18:12885368-12885840	K562	blood:	n/a	n/a
24	RFX5	chr18:12885363-12885544	K562	blood:	n/a	n/a
25	POU2F2	chr18:12885307-12886057	GM12878	blood:	n/a	chr18:12885626-12885639
26	CHD1	chr18:12884493-12885656	GM12878	blood:	n/a	n/a
27	TEAD4	chr18:12885338-12885791	K562	blood:	n/a	n/a
28	POLR2A	chr18:12882565-12885987	GM12878	blood:	n/a	n/a
29	ZNF384	chr18:12885151-12885802	GM12878	blood:	n/a	n/a
30	SP1	chr18:12885367-12885881	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr18:12885088-12885934	GM12878	blood:	n/a	n/a
32	TAL1	chr18:12885380-12885766	K562	blood:	n/a	chr18:12885543-12885561

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65596946..65598700-chr18:12882626..12885488,2	MCF-7	breast:
2	chr18:12774117..12776643-chr18:12883699..12885836,3	K562	blood:
3	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
4	chr18:12885210..12887915-chr18:12922240..12924261,2	K562	blood:
5	chr18:12760116..12762309-chr18:12883836..12885442,2	K562	blood:
6	chr18:12884698..12887915-chr18:12921814..12925737,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEH1L-5	chr18:12884514-12885555	NONHSAT058399

No data

Variant related genes	Relation type
PTPN2	TF binding region
ENSG00000260302	Chromatin interaction
ENSG00000201466	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000085415	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats 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 lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a
7	esv3433183	chr18:12883052-12885400	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	n/a
8	nsv132152	chr18:12885273-12890021	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12882400-12885600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr18:12883200-12885600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr18:12883800-12885400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr18:12884600-12885400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr18:12884600-12885400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr18:12884600-12885400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:12884600-12885600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr18:12884600-12885600	Flanking Active TSS	Fetal Thymus	thymus
9	chr18:12884600-12885800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr18:12884800-12885400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:12884800-12885400	Flanking Active TSS	NHEK	skin
12	chr18:12884800-12885600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr18:12884800-12885600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr18:12884800-12885600	Weak transcription	Psoas Muscle	Psoas
15	chr18:12884800-12885600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr18:12884800-12885600	Flanking Active TSS	K562	blood
17	chr18:12884800-12886000	Enhancers	Small Intestine	intestine
18	chr18:12884800-12886400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:12885000-12885400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:12885000-12885400	Enhancers	Liver	Liver
21	chr18:12885000-12885400	Enhancers	Colon Smooth Muscle	Colon
22	chr18:12885000-12885400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr18:12885000-12885400	Enhancers	Fetal Brain Male	brain
24	chr18:12885000-12885400	Enhancers	Fetal Brain Female	brain
25	chr18:12885000-12885400	Enhancers	Stomach Smooth Muscle	stomach
26	chr18:12885000-12885400	Flanking Active TSS	Thymus	Thymus
27	chr18:12885000-12885400	Flanking Active TSS	HMEC	breast
28	chr18:12885000-12885600	Enhancers	Primary T cells from cord blood	blood
29	chr18:12885000-12885600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr18:12885000-12885600	Enhancers	Brain Angular Gyrus	brain
31	chr18:12885000-12885600	Enhancers	Dnd41	blood
32	chr18:12885000-12885800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:12885000-12885800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:12885000-12885800	Enhancers	Stomach Mucosa	stomach
35	chr18:12885000-12885800	Enhancers	HepG2	liver
36	chr18:12885000-12886000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:12885000-12886000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr18:12885000-12886000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr18:12885000-12886000	Flanking Active TSS	GM12878-XiMat	blood
40	chr18:12885000-12886600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr18:12885000-12886800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr18:12885000-12887000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr18:12885000-12887400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:12885000-12888600	Weak transcription	Fetal Stomach	stomach
45	chr18:12885200-12885400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr18:12885200-12885400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr18:12885200-12885400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:12885200-12885400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr18:12885200-12885400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr18:12885200-12885400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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