Variant report

Variant	rs4806665
Chromosome Location	chr19:55887666-55887667
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	MAZ	chr19:55887659-55888308	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:55887638-55888694	HCT-116	colon:	n/a	n/a
3	RFX5	chr19:55887640-55888182	H1-hESC	embryonic stem cell:	n/a	chr19:55888154-55888169 chr19:55888158-55888167 chr19:55888102-55888116 chr19:55888104-55888113 chr19:55887788-55887802 chr19:55887790-55887799
4	POLR2A	chr19:55887419-55887748	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr19:55887640-55887747	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF2	chr19:55887595-55888501	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr19:55887562-55888473	Hela-S3	cervix:	n/a	n/a
8	ZBTB7A	chr19:55887527-55887751	K562	blood:	n/a	n/a
9	POLR2A	chr19:55886621-55888453	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr19:55887488-55888679	HCT-116	colon:	n/a	n/a
11	POLR2A	chr19:55886716-55888470	Raji	blood:	n/a	n/a
12	GTF2F1	chr19:55887550-55888099	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:55886648-55888314	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr19:55886597-55891051	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr19:55886445-55889249	Hela-S3	cervix:	n/a	n/a
16	ZBTB7A	chr19:55887540-55887853	K562	blood:	n/a	n/a
17	RFX5	chr19:55887598-55888272	Hela-S3	cervix:	n/a	chr19:55888154-55888169 chr19:55888158-55888167 chr19:55888102-55888116 chr19:55888104-55888113 chr19:55887788-55887802 chr19:55887790-55887799
18	POLR2A	chr19:55886752-55888495	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55880381..55884285-chr19:55886063..55890457,4	K562	blood:

Variant related genes	Relation type
TMEM190	TF binding region
ENSG00000095752	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1126757	0.92[JPT][hapmap]
rs35117389	0.85[ASN][1000 genomes]
rs4806666	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS 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	212 gene(s)	inside rSNPs	diseases
4	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
5	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
6	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
10	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
11	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
12	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
13	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
14	nsv912469	chr19:55872591-55888598	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv912470	chr19:55872591-55897170	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	79 gene(s)	inside rSNPs	diseases
16	nsv912472	chr19:55873726-55888598	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
18	nsv912475	chr19:55874986-55888598	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv544085	chr19:55875808-55911275	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
20	nsv912476	chr19:55876747-55897327	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55881400-55894800	Weak transcription	Right Atrium	heart
2	chr19:55883200-55890000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:55883800-55888800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:55883800-55889200	Bivalent Enhancer	Fetal Stomach	stomach
5	chr19:55884000-55890800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:55885800-55887800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr19:55885800-55888000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:55885800-55888200	Weak transcription	Pancreas	Pancrea
9	chr19:55885800-55888400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:55885800-55888800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:55885800-55891600	Enhancers	HSMM	muscle
12	chr19:55886200-55887800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:55886200-55888000	Enhancers	A549	lung
14	chr19:55886200-55888000	Enhancers	HepG2	liver
15	chr19:55886200-55889200	Weak transcription	HSMMtube	muscle
16	chr19:55886200-55890000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:55886400-55887800	Weak transcription	NH-A	brain
18	chr19:55886800-55888000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr19:55886800-55888200	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr19:55886800-55888200	Enhancers	K562	blood
21	chr19:55886800-55888800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:55886800-55891000	Bivalent Enhancer	Placenta	Placenta
23	chr19:55887000-55888200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:55887000-55888200	Flanking Active TSS	Hela-S3	cervix
25	chr19:55887000-55888600	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr19:55887000-55889200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:55887000-55891600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr19:55887000-55893600	Weak transcription	GM12878-XiMat	blood
29	chr19:55887200-55887800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr19:55887200-55888000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:55887200-55888000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr19:55887200-55888200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr19:55887400-55887800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:55887400-55888600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr19:55887600-55887800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr19:55887600-55887800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr19:55887600-55887800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr19:55887600-55887800	Enhancers	Lung	lung
39	chr19:55887600-55888000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:55887600-55888000	Enhancers	Esophagus	oesophagus
41	chr19:55887600-55888000	Bivalent Enhancer	Fetal Thymus	thymus
42	chr19:55887600-55888200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
43	chr19:55887600-55888200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:55887600-55888400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr19:55887600-55888400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr19:55887600-55888600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:55887600-55889000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr19:55887600-55889600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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