Variant report

Variant	rs549699565
Chromosome Location	chr19:19007268-19007269
allele	A/T
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	ZBTB7A	chr19:19005463-19007546	ECC-1	luminal epithelium:	n/a	chr19:19006272-19006280 chr19:19007191-19007200 chr19:19006426-19006435 chr19:19006346-19006354 chr19:19005781-19005790 chr19:19007143-19007151
2	ZBTB7A	chr19:19005601-19007569	ECC-1	luminal epithelium:	n/a	chr19:19006272-19006280 chr19:19007191-19007200 chr19:19006426-19006435 chr19:19006346-19006354 chr19:19005781-19005790 chr19:19007143-19007151
3	ZBTB7A	chr19:19007197-19007378	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
2	chr19:18958703..18961204-chr19:19005451..19007447,2	MCF-7	breast:
3	chr19:19005129..19007826-chr19:19028734..19032982,4	MCF-7	breast:
4	chr19:19004982..19008022-chr19:19042434..19045091,3	K562	blood:
5	chr19:19005183..19007690-chr19:19050687..19053273,2	MCF-7	breast:
6	chr19:18990686..18992579-chr19:19006938..19009413,2	K562	blood:
7	chr19:19006298..19008038-chr19:19034237..19036261,2	K562	blood:
8	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:

Variant related genes	Relation type
GDF1	TF binding region
CERS1	TF binding region
ENSG00000051128	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000269019	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv3340381	chr19:19005752-19008350	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1823390	chr19:19006569-19017777	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19004800-19007800	Active TSS	Brain Substantia Nigra	brain
2	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
3	chr19:19005000-19007400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:19005000-19007400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr19:19005000-19007600	Active TSS	Brain Angular Gyrus	brain
6	chr19:19005600-19007400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:19005600-19007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:19005600-19007600	Enhancers	Pancreas	Pancrea
9	chr19:19005800-19007400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:19005800-19007400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:19005800-19007400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:19005800-19007400	Enhancers	Liver	Liver
13	chr19:19005800-19007600	Enhancers	Lung	lung
14	chr19:19006000-19007400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:19006000-19007400	Active TSS	A549	lung
16	chr19:19006000-19007400	Active TSS	HepG2	liver
17	chr19:19006000-19007400	Active TSS	NH-A	brain
18	chr19:19006000-19007600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:19006000-19007600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:19006000-19007600	Active TSS	HSMM	muscle
21	chr19:19006000-19008000	Active TSS	Fetal Brain Female	brain
22	chr19:19006200-19007400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:19006200-19007400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:19006200-19007400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:19006200-19007400	Weak transcription	Fetal Brain Male	brain
26	chr19:19006200-19007600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:19006200-19008200	Bivalent Enhancer	Spleen	Spleen
28	chr19:19006400-19007400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:19006400-19011000	Weak transcription	Fetal Lung	lung
30	chr19:19006600-19007400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:19006600-19007400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:19006600-19007400	Active TSS	Brain Germinal Matrix	brain
33	chr19:19006600-19007600	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr19:19006600-19010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:19006600-19010000	Weak transcription	Gastric	stomach
36	chr19:19006600-19016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:19006600-19027800	Weak transcription	NHDF-Ad	bronchial
38	chr19:19006600-19029000	Weak transcription	Fetal Kidney	kidney
39	chr19:19006800-19007400	Active TSS	Primary hematopoietic stem cells	blood
40	chr19:19006800-19007400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:19006800-19007400	Active TSS	HMEC	breast
42	chr19:19006800-19007600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:19006800-19008400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr19:19006800-19008800	Weak transcription	K562	blood
45	chr19:19006800-19009200	Weak transcription	Hela-S3	cervix
46	chr19:19006800-19009400	Weak transcription	HSMMtube	muscle
47	chr19:19006800-19010000	Weak transcription	Left Ventricle	heart
48	chr19:19006800-19011200	Weak transcription	Primary B cells from cord blood	blood
49	chr19:19006800-19017800	Weak transcription	HUVEC	blood vessel
50	chr19:19007000-19007400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links