Variant report

Variant	rs545523872
Chromosome Location	chr19:38719807-38719808
allele	G/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	REST	chr19:38719009-38719841	H1-neurons	neurons:	n/a	chr19:38719471-38719484
2	SIN3AK20	chr19:38719650-38720100	PANC-1	pancreas:	n/a	n/a
3	TCF7L2	chr19:38719064-38719881	HCT-116	colon:	n/a	n/a
4	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
5	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556
6	POLR2A	chr19:38718631-38720930	H1-neurons	neurons:	n/a	n/a
7	ZBTB7A	chr19:38719286-38720226	ECC-1	luminal epithelium:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
8	SIN3A	chr19:38718309-38720711	H1-hESC	embryonic stem cell:	n/a	chr19:38718770-38718781
9	TCF12	chr19:38719112-38719958	A549	lung:	n/a	n/a
10	TCF7L2	chr19:38719323-38719883	PANC-1	pancreas:	n/a	n/a
11	SIN3AK20	chr19:38719047-38720071	PANC-1	pancreas:	n/a	n/a
12	ZBTB7A	chr19:38719762-38720239	K562	blood:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
13	ZBTB7A	chr19:38719477-38720252	ECC-1	luminal epithelium:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
14	CTBP2	chr19:38719154-38720005	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAZ	chr19:38719093-38720928	IMR90	lung:	n/a	chr19:38720133-38720143 chr19:38719671-38719681
16	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
17	ZBTB7A	chr19:38719756-38720275	K562	blood:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
18	CHD1	chr19:38719662-38719882	H1-hESC	embryonic stem cell:	n/a	chr19:38719767-38719774
19	TAF1	chr19:38719045-38720842	H1-neurons	neurons:	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	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
4	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
5	chr19:38718989..38720789-chr19:38865301..38866855,2	MCF-7	breast:
6	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
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
ENSG00000167645	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3405182	chr19:38719137-38721685	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:38718200-38720000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr19:38718400-38720600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr19:38718400-38721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:38718600-38720000	Bivalent Enhancer	Primary T cells from cord blood	blood
7	chr19:38718600-38720200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:38718600-38720600	Active TSS	Brain Angular Gyrus	brain
9	chr19:38718600-38720600	Active TSS	Right Ventricle	heart
10	chr19:38718600-38720800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:38718800-38720000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:38718800-38720200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:38718800-38720600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:38718800-38720600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:38718800-38720800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr19:38718800-38720800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr19:38718800-38720800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr19:38718800-38721000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:38718800-38721000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:38718800-38721200	Active TSS	Brain Germinal Matrix	brain
21	chr19:38718800-38721200	Active TSS	Fetal Brain Female	brain
22	chr19:38719000-38720000	Enhancers	Fetal Heart	heart
23	chr19:38719000-38720600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr19:38719000-38720600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:38719000-38720600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:38719000-38720600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:38719000-38720600	Active TSS	Right Atrium	heart
28	chr19:38719200-38720000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:38719200-38720000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr19:38719200-38720000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:38719200-38720000	Bivalent Enhancer	Esophagus	oesophagus
32	chr19:38719200-38720000	Enhancers	Fetal Lung	lung
33	chr19:38719200-38720000	Enhancers	Gastric	stomach
34	chr19:38719200-38720000	Bivalent Enhancer	Ovary	ovary
35	chr19:38719200-38720000	Active TSS	NHDF-Ad	bronchial
36	chr19:38719200-38720200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr19:38719200-38720200	Bivalent Enhancer	Placenta	Placenta
44	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
45	chr19:38719200-38720200	Bivalent Enhancer	Left Ventricle	heart
46	chr19:38719200-38720200	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr19:38719200-38720200	Flanking Active TSS	HUVEC	blood vessel
49	chr19:38719200-38720200	Active TSS	NH-A	brain
50	chr19:38719200-38720200	Active TSS	NHLF	lung

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