Variant report

Variant	rs7247346
Chromosome Location	chr19:18707878-18707879
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18707308-18708152	K562	blood:	n/a	n/a
2	POLR2A	chr19:18707372-18707953	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:18707425-18707948	Hela-S3	cervix:	n/a	n/a
4	CBX3	chr19:18707440-18708069	K562	blood:	n/a	n/a
5	CTCF	chr19:18707595-18707938	K562	blood:	n/a	n/a
6	POLR2A	chr19:18707299-18707960	PFSK-1	brain:	n/a	n/a
7	CTCF	chr19:18707800-18707950	Hela-S3	cervix:	n/a	n/a
8	MYC	chr19:18707652-18707905	NB4	blood:	n/a	n/a
9	MXI1	chr19:18707690-18707878	K562	blood:	n/a	n/a
10	RAD21	chr19:18707294-18707980	ECC-1	luminal epithelium:	n/a	chr19:18707909-18707919
11	YY1	chr19:18707614-18708016	K562	blood:	n/a	n/a
12	ZMIZ1	chr19:18707788-18707887	K562	blood:	n/a	n/a
13	ZNF143	chr19:18707549-18707913	K562	blood:	n/a	n/a
14	MAX	chr19:18707332-18708079	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr19:18707691-18707888	K562	blood:	n/a	n/a
16	MAX	chr19:18707257-18708017	K562	blood:	n/a	n/a
17	MAX	chr19:18707657-18707973	NB4	blood:	n/a	n/a
18	CEBPB	chr19:18707434-18707896	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr19:18707493-18707930	K562	blood:	n/a	chr19:18707751-18707764
20	BACH1	chr19:18707801-18708001	K562	blood:	n/a	n/a
21	MAZ	chr19:18707496-18707993	K562	blood:	n/a	n/a
22	HCFC1	chr19:18707276-18708248	Hela-S3	cervix:	n/a	n/a
23	E2F6	chr19:18707461-18707916	K562	blood:	n/a	n/a
24	JUND	chr19:18707522-18707974	K562	blood:	n/a	n/a
25	MAZ	chr19:18707468-18708006	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr19:18707773-18707900	MCF-7	breast:	n/a	n/a
27	CTCF	chr19:18707602-18707903	K562	blood:	n/a	n/a
28	ELF1	chr19:18707539-18707897	K562	blood:	n/a	chr19:18707751-18707764
29	IRF1	chr19:18707485-18707893	K562	blood:	n/a	n/a
30	POLR2A	chr19:18707363-18707916	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr19:18707550-18707966	Hela-S3	cervix:	n/a	n/a
32	BHLHE40	chr19:18707424-18708081	K562	blood:	n/a	n/a
33	MAX	chr19:18707604-18707901	K562	blood:	n/a	n/a
34	TEAD4	chr19:18707296-18707983	K562	blood:	n/a	n/a
35	TAF1	chr19:18707561-18707915	K562	blood:	n/a	n/a
36	MYC	chr19:18707591-18708003	K562	blood:	n/a	n/a
37	E2F6	chr19:18707522-18707985	K562	blood:	n/a	n/a
38	ZBTB7A	chr19:18707581-18708003	K562	blood:	n/a	n/a
39	POLR2A	chr19:18707343-18708696	HepG2	liver:	n/a	n/a
40	EP300	chr19:18707473-18707909	K562	blood:	n/a	n/a
41	GTF2F1	chr19:18707739-18707903	K562	blood:	n/a	n/a
42	CTCF	chr19:18707665-18707887	Hela-S3	cervix:	n/a	n/a
43	MYC	chr19:18707501-18707982	K562	blood:	n/a	n/a
44	SMC3	chr19:18707547-18707943	Hela-S3	cervix:	n/a	n/a
45	NFYA	chr19:18707730-18707921	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr19:18707360-18707964	K562	blood:	n/a	n/a
47	ELK1	chr19:18707848-18708021	K562	blood:	n/a	n/a
48	CTCF	chr19:18707618-18707960	K562	blood:	n/a	n/a
49	RCOR1	chr19:18707495-18707886	K562	blood:	n/a	n/a
50	POLR2A	chr19:18707411-18707964	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18707257..18708113-chr19:18717405..18718259,2	K562	blood:
2	chr19:18703681..18707981-chr19:18746387..18750076,5	K562	blood:
3	chr19:18705236..18708147-chr19:18708992..18711198,3	K562	blood:
4	chr19:18631279..18634372-chr19:18705678..18709198,3	K562	blood:

No data

Variant related genes	Relation type
CRLF1	TF binding region
ENSG00000105656	Chromatin interaction
ENSG00000105696	Chromatin interaction
ENSG00000167487	Chromatin interaction
ENSG00000006016	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10409392	0.82[ASN][1000 genomes]
rs11086120	0.88[AMR][1000 genomes]
rs8106957	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv911287	chr19:18699333-18727913	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
9	nsv911288	chr19:18700047-18739497	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv911290	chr19:18701499-18720981	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
12	nsv911291	chr19:18701499-18726856	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
13	nsv911292	chr19:18701499-18731658	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18701200-18713600	Weak transcription	HSMMtube	muscle
2	chr19:18705800-18708000	Enhancers	Right Ventricle	heart
3	chr19:18705800-18714200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:18706000-18709400	Weak transcription	Esophagus	oesophagus
5	chr19:18706000-18712600	Weak transcription	HSMM	muscle
6	chr19:18706000-18713600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr19:18706000-18714000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:18706200-18708200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:18706200-18714400	Weak transcription	Right Atrium	heart
10	chr19:18706400-18716200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:18706800-18709400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr19:18706800-18710600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:18707200-18708000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr19:18707200-18708000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:18707200-18708000	Enhancers	Pancreas	Pancrea
16	chr19:18707200-18710600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr19:18707400-18708000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr19:18707400-18708000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:18707400-18708000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:18707400-18708000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr19:18707400-18708000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:18707400-18708000	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr19:18707400-18708000	Enhancers	Ovary	ovary
24	chr19:18707400-18708000	Enhancers	Spleen	Spleen
25	chr19:18707400-18708200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr19:18707400-18708200	Bivalent Enhancer	Placenta	Placenta
27	chr19:18707400-18708400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:18707400-18709600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:18707600-18708000	Enhancers	Primary B cells from peripheral blood	blood
30	chr19:18707600-18708000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:18707600-18708000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr19:18707600-18708000	Enhancers	Gastric	stomach
33	chr19:18707600-18708200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr19:18707600-18708200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:18707600-18708200	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr19:18707600-18708200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr19:18707800-18708000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr19:18707800-18708000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:18707800-18708000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr19:18707800-18708000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:18707800-18708000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr19:18707800-18708000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr19:18707800-18708000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:18707800-18708000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:18707800-18708000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr19:18707800-18708000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:18707800-18708000	Bivalent Enhancer	Brain Hippocampus Middle	brain
48	chr19:18707800-18708000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr19:18707800-18708000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr19:18707800-18708000	Bivalent Enhancer	Fetal Heart	heart

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