Variant report

Variant	rs556655608
Chromosome Location	chr19:38718559-38718560
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	YY1	chr19:38718557-38718898	H1-hESC	embryonic stem cell:	n/a	chr19:38718702-38718712 chr19:38718701-38718713 chr19:38718705-38718713 chr19:38718702-38718724
2	MAX	chr19:38718543-38719486	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
4	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556
5	ZBTB7A	chr19:38718439-38719034	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr19:38718413-38719021	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOS	chr19:38718359-38718566	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr19:38718387-38719440	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr19:38718309-38720711	H1-hESC	embryonic stem cell:	n/a	chr19:38718770-38718781
10	FOS	chr19:38718335-38718583	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
12	SP1	chr19:38718527-38719013	H1-hESC	embryonic stem cell:	n/a	chr19:38718998-38719012 chr19:38718996-38719006

No.	Distal block	Cell Line	Cell type
1	chr19:38717093..38718677-chr19:38724126..38726976,2	K562	blood:
2	chr19:38718052..38720655-chr19:38755234..38758069,2	MCF-7	breast:
3	chr19:38715204..38718579-chr19:38826351..38828588,3	K562	blood:
4	chr19:38713729..38715323-chr19:38716058..38719030,2	K562	blood:
5	chr19:38716917..38718796-chr19:38722935..38725683,2	MCF-7	breast:
6	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
7	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
8	chr19:38713729..38715404-chr19:38717530..38720413,2	K562	blood:
9	chr19:38717810..38720228-chr19:38876711..38878921,2	K562	blood:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000179168	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000167642	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3437908	chr19:38717937-38720485	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3440033	chr19:38718162-38720160	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38715200-38719000	Weak transcription	Right Atrium	heart
2	chr19:38715200-38719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr19:38715200-38719200	Weak transcription	Pancreas	Pancrea
4	chr19:38715400-38718600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:38715400-38719000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:38715400-38719200	Weak transcription	NH-A	brain
7	chr19:38715400-38719200	Weak transcription	NHDF-Ad	bronchial
8	chr19:38715600-38719400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
10	chr19:38716600-38718600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:38716600-38719200	Enhancers	A549	lung
12	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr19:38716800-38718600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:38716800-38719200	Enhancers	Fetal Brain Male	brain
15	chr19:38717000-38718800	Flanking Active TSS	Fetal Brain Female	brain
16	chr19:38717200-38718600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr19:38717400-38718600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr19:38717400-38718600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:38717400-38719200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:38717600-38719400	Weak transcription	K562	blood
21	chr19:38718000-38718600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:38718000-38718800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr19:38718000-38718800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr19:38718000-38719000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:38718000-38719000	Enhancers	NHEK	skin
26	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:38718200-38718600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:38718200-38718800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:38718200-38718800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr19:38718200-38718800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:38718200-38718800	Bivalent Enhancer	Liver	Liver
32	chr19:38718200-38719000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:38718200-38720000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr19:38718400-38718600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:38718400-38718600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr19:38718400-38718600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr19:38718400-38718600	Enhancers	Fetal Heart	heart
38	chr19:38718400-38718800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr19:38718400-38718800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr19:38718400-38718800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr19:38718400-38719000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr19:38718400-38719000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:38718400-38719600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr19:38718400-38719600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:38718400-38720600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr19:38718400-38721000	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links