Variant report

Variant	rs529295835
Chromosome Location	chr19:38718828-38718829
allele	C/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	MXI1	chr19:38718685-38718858	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr19:38718807-38719471	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr19:38718650-38718932	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr19:38718557-38718898	H1-hESC	embryonic stem cell:	n/a	chr19:38718702-38718712 chr19:38718701-38718713 chr19:38718705-38718713 chr19:38718702-38718724
5	MAX	chr19:38718543-38719486	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr19:38718700-38718959	K562	blood:	n/a	n/a
7	ZBTB7A	chr19:38718749-38719238	K562	blood:	n/a	n/a
8	E2F6	chr19:38718611-38719178	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
10	MAX	chr19:38718603-38719545	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:38718670-38718850	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556
13	POLR2A	chr19:38718631-38720930	H1-neurons	neurons:	n/a	n/a
14	ZBTB7A	chr19:38718439-38719034	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr19:38718413-38719021	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr19:38718387-38719440	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr19:38718309-38720711	H1-hESC	embryonic stem cell:	n/a	chr19:38718770-38718781
18	E2F6	chr19:38718577-38719554	H1-hESC	embryonic stem cell:	n/a	chr19:38719223-38719235
19	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
20	MAX	chr19:38718706-38718992	K562	blood:	n/a	n/a
21	SP1	chr19:38718527-38719013	H1-hESC	embryonic stem cell:	n/a	chr19:38718998-38719012 chr19:38718996-38719006
22	TBP	chr19:38718688-38718876	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr19:38718739-38718888	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr19:38718597-38718911	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38718052..38720655-chr19:38755234..38758069,2	MCF-7	breast:
2	chr19:38711348..38714655-chr19:38718716..38721513,3	MCF-7	breast:
3	chr19:38713729..38715323-chr19:38716058..38719030,2	K562	blood:
4	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
5	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
6	chr19:38713729..38715404-chr19:38717530..38720413,2	K562	blood:
7	chr19:38717810..38720228-chr19:38876711..38878921,2	K562	blood:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3419802	chr19:38718712-38720860	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

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	chr19:38715400-38719000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:38715400-38719200	Weak transcription	NH-A	brain
6	chr19:38715400-38719200	Weak transcription	NHDF-Ad	bronchial
7	chr19:38715600-38719400	Weak transcription	Brain Anterior Caudate	brain
8	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
9	chr19:38716600-38719200	Enhancers	A549	lung
10	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr19:38716800-38719200	Enhancers	Fetal Brain Male	brain
12	chr19:38717400-38719200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:38717600-38719400	Weak transcription	K562	blood
14	chr19:38718000-38719000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:38718000-38719000	Enhancers	NHEK	skin
16	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:38718200-38719000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:38718200-38720000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr19:38718400-38719000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:38718400-38719000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:38718400-38719600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr19:38718400-38719600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:38718400-38720600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr19:38718400-38721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:38718600-38719000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:38718600-38719000	Weak transcription	Fetal Heart	heart
27	chr19:38718600-38719200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:38718600-38719200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:38718600-38719200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr19:38718600-38719200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr19:38718600-38719200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr19:38718600-38719200	Bivalent Enhancer	Fetal Stomach	stomach
33	chr19:38718600-38719400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr19:38718600-38719400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:38718600-38719400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr19:38718600-38719400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:38718600-38719800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
38	chr19:38718600-38719800	Bivalent Enhancer	Fetal Thymus	thymus
39	chr19:38718600-38720000	Bivalent Enhancer	Primary T cells from cord blood	blood
40	chr19:38718600-38720200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:38718600-38720600	Active TSS	Brain Angular Gyrus	brain
42	chr19:38718600-38720600	Active TSS	Right Ventricle	heart
43	chr19:38718600-38720800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr19:38718800-38719000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:38718800-38719200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr19:38718800-38719200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:38718800-38719400	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:38718800-38719800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr19:38718800-38720000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr19:38718800-38720200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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