Variant report

Variant	rs138415270
Chromosome Location	chr19:45310743-45310744
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45310543-45310809	HepG2	liver:	n/a	n/a
2	FOXA2	chr19:45310192-45310840	A549	lung:	n/a	n/a
3	EP300	chr19:45310243-45310817	A549	lung:	n/a	n/a
4	SP1	chr19:45310143-45310975	A549	lung:	n/a	n/a
5	MYBL2	chr19:45310200-45310802	HepG2	liver:	n/a	n/a
6	EP300	chr19:45310285-45310751	HepG2	liver:	n/a	n/a
7	FOXA1	chr19:45310282-45310772	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:45310315-45310790	MCF-7	breast:	n/a	n/a
9	MBD4	chr19:45310262-45310745	HepG2	liver:	n/a	n/a
10	TEAD4	chr19:45310189-45310801	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:45310325-45310832	HCT-116	colon:	n/a	n/a
12	POLR2A	chr19:45310248-45310914	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:45310377-45310751	MCF-7	breast:	n/a	n/a
14	MAX	chr19:45310188-45310878	A549	lung:	n/a	n/a
15	TCF12	chr19:45310159-45312773	A549	lung:	n/a	chr19:45310284-45310291 chr19:45311761-45311769
16	POLR2A	chr19:45310306-45311012	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr19:45310600-45310750	K562	blood:	n/a	n/a
18	REST	chr19:45310371-45310833	A549	lung:	n/a	chr19:45310428-45310442 chr19:45310430-45310440
19	MAX	chr19:45310215-45310811	MCF-7	breast:	n/a	n/a
20	FOXA2	chr19:45310229-45310780	A549	lung:	n/a	n/a
21	FOXA1	chr19:45310236-45310782	HepG2	liver:	n/a	n/a
22	MAX	chr19:45310257-45310884	MCF-7	breast:	n/a	n/a
23	SP1	chr19:45310340-45310767	HepG2	liver:	n/a	n/a
24	MAX	chr19:45310260-45310807	A549	lung:	n/a	n/a
25	BHLHE40	chr19:45310340-45310764	HepG2	liver:	n/a	chr19:45310514-45310535
26	BCL3	chr19:45310251-45310780	A549	lung:	n/a	n/a
27	BHLHE40	chr19:45310251-45310772	HepG2	liver:	n/a	chr19:45310514-45310535
28	POLR2A	chr19:45310262-45310850	HCT-116	colon:	n/a	n/a
29	POLR2A	chr19:45310321-45310798	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr19:45310415-45310828	MCF10A-Er-Src	breast:	n/a	n/a
31	ZEB1	chr19:45310184-45312778	HepG2	liver:	n/a	chr19:45311513-45311520
32	SIN3AK20	chr19:45310145-45311025	MCF-7	breast:	n/a	n/a
33	FOSL2	chr19:45310278-45311447	A549	lung:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45258326..45260627-chr19:45310152..45311875,2	MCF-7	breast:
2	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
3	chr19:45227043..45229115-chr19:45309849..45311993,3	MCF-7	breast:
4	chr19:45308884..45313334-chr19:45345353..45351688,18	MCF-7	breast:
5	chr19:45256385..45258826-chr19:45310390..45312154,2	MCF-7	breast:
6	chr19:45305840..45308889-chr19:45308989..45312130,4	MCF-7	breast:
7	chr19:45309744..45311644-chr19:45324913..45327057,2	MCF-7	breast:
8	chr19:45309587..45312322-chr19:45456957..45459370,2	MCF-7	breast:
9	chr19:45147379..45150123-chr19:45308817..45312008,3	MCF-7	breast:
10	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
11	chr19:45298818..45303552-chr19:45309335..45312129,4	MCF-7	breast:
12	chr19:45308022..45312966-chr19:45346579..45352259,11	MCF-7	breast:
13	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:

No data

Variant related genes	Relation type
BCAM	TF binding region
ENSG00000130202	Chromatin interaction
ENSG00000267114	Chromatin interaction
ENSG00000104853	Chromatin interaction
ENSG00000073008	Chromatin interaction
ENSG00000069399	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	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv912119	chr19:45304307-45317089	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv912120	chr19:45304307-45317469	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv912121	chr19:45304307-45319297	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv912122	chr19:45304307-45324516	Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv579861	chr19:45309972-45314395	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv912123	chr19:45310319-45314395	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv579862	chr19:45310319-45316807	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv912124	chr19:45310319-45318564	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv912125	chr19:45310319-45321841	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv579863	chr19:45310319-45322451	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
4	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
7	chr19:45307400-45311200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:45307600-45311200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:45307600-45311200	Weak transcription	Spleen	Spleen
10	chr19:45307600-45311400	Weak transcription	Lung	lung
11	chr19:45307800-45311400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr19:45309400-45311200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:45309400-45311800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:45309600-45311200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr19:45309600-45311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr19:45309600-45311800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:45309600-45311800	Enhancers	Placenta	Placenta
18	chr19:45309600-45311800	Enhancers	HMEC	breast
19	chr19:45309600-45311800	Enhancers	NHEK	skin
20	chr19:45309800-45311200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr19:45309800-45311400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr19:45309800-45311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:45309800-45311400	Enhancers	Fetal Heart	heart
24	chr19:45309800-45312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:45310000-45311200	Weak transcription	NHLF	lung
26	chr19:45310000-45311600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr19:45310200-45310800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:45310200-45311400	Enhancers	Liver	Liver
29	chr19:45310200-45311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:45310200-45311800	Enhancers	Fetal Intestine Large	intestine
31	chr19:45310200-45311800	Enhancers	Fetal Intestine Small	intestine
32	chr19:45310200-45311800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr19:45310200-45312000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:45310200-45312400	Enhancers	Gastric	stomach
35	chr19:45310400-45310800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr19:45310400-45310800	Flanking Active TSS	HepG2	liver
37	chr19:45310400-45311400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:45310400-45311600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:45310400-45311600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:45310400-45311600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:45310400-45311800	Enhancers	Fetal Muscle Trunk	muscle
42	chr19:45310400-45311800	Enhancers	Pancreas	Pancrea
43	chr19:45310400-45311800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr19:45310400-45312000	Enhancers	Stomach Mucosa	stomach
45	chr19:45310400-45312200	Flanking Active TSS	A549	lung
46	chr19:45310400-45312400	Enhancers	Esophagus	oesophagus
47	chr19:45310600-45310800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:45310600-45311000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:45310600-45311200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr19:45310600-45311200	Enhancers	Stomach Smooth Muscle	stomach

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