Variant report

Variant	rs372527012
Chromosome Location	chr19:40005981-40005982
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr19:40005278-40006947	H1-hESC	embryonic stem cell:	n/a	chr19:40006693-40006706
2	SP4	chr19:40005733-40006236	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr19:40005816-40006047	HepG2	liver:	n/a	n/a
4	JUND	chr19:40005923-40006112	HepG2	liver:	n/a	n/a
5	JUND	chr19:40005719-40006377	H1-hESC	embryonic stem cell:	n/a	chr19:40005806-40005815
6	TEAD4	chr19:40005576-40006298	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUN	chr19:40005641-40006237	H1-hESC	embryonic stem cell:	n/a	chr19:40005806-40005815
8	RAD21	chr19:40005543-40006198	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZBTB7A	chr19:40005568-40006068	K562	blood:	n/a	n/a
10	MYC	chr19:40005527-40006265	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr19:40003820-40007253	PANC-1	pancreas:	n/a	chr19:40006697-40006706
12	TAF1	chr19:40005796-40006496	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr19:40005681-40006736	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr19:40005623-40006251	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr19:40005353-40006395	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr19:40005428-40006261	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr19:40005565-40006762	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr19:40005515-40006511	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr19:40005460-40006565	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr19:40005477-40006309	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr19:40005751-40006206	H1-hESC	embryonic stem cell:	n/a	n/a
22	RFX5	chr19:40005753-40006303	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr19:40005606-40006459	H1-hESC	embryonic stem cell:	n/a	chr19:40005662-40005671
24	RAD21	chr19:40005286-40006191	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr19:40005663-40006396	A549	lung:	n/a	n/a
26	SIN3AK20	chr19:40002596-40007321	PANC-1	pancreas:	n/a	n/a
27	CTBP2	chr19:40005508-40006510	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr19:40005761-40006172	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF12	chr19:40005881-40006231	H1-hESC	embryonic stem cell:	n/a	n/a
30	BCL3	chr19:40005105-40006369	A549	lung:	n/a	n/a
31	TCF12	chr19:40005273-40006380	A549	lung:	n/a	chr19:40005712-40005722
32	SP1	chr19:40005426-40006462	H1-hESC	embryonic stem cell:	n/a	chr19:40005662-40005671
33	E2F6	chr19:40005428-40006313	H1-hESC	embryonic stem cell:	n/a	chr19:40005662-40005674
34	CHD2	chr19:40005678-40006212	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr19:40005810-40006504	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr19:40005446-40007191	H1-hESC	embryonic stem cell:	n/a	n/a
37	SP1	chr19:40005764-40006329	A549	lung:	n/a	n/a
38	GABPA	chr19:40005660-40006515	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:40005913-40006219	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr19:40005653-40006485	H1-hESC	embryonic stem cell:	n/a	chr19:40005806-40005815
41	YY1	chr19:40005726-40006256	H1-hESC	embryonic stem cell:	n/a	n/a
42	GTF2F1	chr19:40005444-40006226	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZBTB7A	chr19:40005906-40006028	HepG2	liver:	n/a	n/a
44	POLR2A	chr19:40005935-40006462	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr19:40005538-40006261	H1-hESC	embryonic stem cell:	n/a	n/a
46	TBP	chr19:40005612-40006944	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP4	chr19:40005395-40006428	H1-hESC	embryonic stem cell:	n/a	chr19:40005657-40005673
48	JUND	chr19:40005622-40006420	A549	lung:	n/a	chr19:40005806-40005815
49	POLR2A	chr19:40005673-40006658	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAF7	chr19:40005744-40006536	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39987217..39989716-chr19:40005337..40006880,2	MCF-7	breast:
2	chr19:39926370..39927938-chr19:40004340..40006529,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186838	TF binding region
ENSG00000196235	Chromatin interaction
ENSG00000090932	Chromatin interaction
ENSG00000105193	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	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv3374976	chr19:39998161-40023263	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv522811	chr19:40004640-40008220	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40005200-40006000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
2	chr19:40005200-40006600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr19:40005200-40007200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:40005200-40007400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:40005200-40007800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:40005400-40006000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:40005400-40006000	Bivalent Enhancer	Primary B cells from cord blood	blood
8	chr19:40005400-40006000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:40005400-40006000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:40005400-40006000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:40005400-40006000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr19:40005400-40006000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:40005400-40006000	Bivalent Enhancer	Fetal Thymus	thymus
14	chr19:40005400-40006000	Bivalent Enhancer	Left Ventricle	heart
15	chr19:40005400-40006000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr19:40005400-40006200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
17	chr19:40005400-40006200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:40005400-40006200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:40005400-40006200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr19:40005400-40006400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
21	chr19:40005400-40006600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:40005400-40006600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:40005400-40006600	Bivalent Enhancer	Fetal Lung	lung
24	chr19:40005400-40006600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr19:40005400-40006600	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr19:40005400-40006800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
27	chr19:40005400-40006800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr19:40005400-40006800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:40005400-40006800	Flanking Active TSS	Right Ventricle	heart
30	chr19:40005400-40006800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr19:40005400-40007000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr19:40005400-40007000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr19:40005400-40007200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:40005400-40007200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:40005400-40007200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr19:40005400-40007200	Active TSS	Fetal Kidney	kidney
37	chr19:40005600-40006000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:40005600-40006000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:40005600-40006000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
40	chr19:40005600-40006000	Bivalent/Poised TSS	Colonic Mucosa	Colon
41	chr19:40005600-40006000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr19:40005600-40006000	Enhancers	Gastric	stomach
43	chr19:40005600-40006200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr19:40005600-40006200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr19:40005600-40006200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr19:40005600-40006200	Active TSS	Right Atrium	heart
47	chr19:40005600-40006200	Bivalent/Poised TSS	A549	lung
48	chr19:40005600-40006200	Bivalent/Poised TSS	HSMM	muscle
49	chr19:40005600-40006200	Bivalent Enhancer	NH-A	brain
50	chr19:40005600-40006400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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