Variant report

Variant	rs374330488
Chromosome Location	chr19:38719497-38719498
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	REST	chr19:38719009-38719841	H1-neurons	neurons:	n/a	chr19:38719471-38719484
2	TAF1	chr19:38719054-38719672	H1-neurons	neurons:	n/a	n/a
3	CTCF	chr19:38719420-38719570	HRE	kidney:	n/a	chr19:38719523-38719541
4	ZNF263	chr19:38719255-38719581	HEK293-T-REx	kidney:	n/a	chr19:38719371-38719392
5	TCF7L2	chr19:38719064-38719881	HCT-116	colon:	n/a	n/a
6	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
7	MAX	chr19:38718603-38719545	H1-hESC	embryonic stem cell:	n/a	n/a
8	NR3C1	chr19:38718917-38719662	A549	lung:	n/a	chr19:38719588-38719601
9	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556
10	CTCF	chr19:38719400-38719550	HCPEpiC	choroid plexus:	n/a	chr19:38719523-38719541
11	POLR2A	chr19:38718631-38720930	H1-neurons	neurons:	n/a	n/a
12	ELF1	chr19:38719200-38719537	K562	blood:	n/a	n/a
13	CREB1	chr19:38719389-38719778	A549	lung:	n/a	n/a
14	ZBTB7A	chr19:38719286-38720226	ECC-1	luminal epithelium:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
15	SIN3AK20	chr19:38719065-38719699	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr19:38718309-38720711	H1-hESC	embryonic stem cell:	n/a	chr19:38718770-38718781
17	TCF12	chr19:38719112-38719958	A549	lung:	n/a	n/a
18	E2F6	chr19:38718577-38719554	H1-hESC	embryonic stem cell:	n/a	chr19:38719223-38719235
19	TCF7L2	chr19:38719323-38719883	PANC-1	pancreas:	n/a	n/a
20	SIN3AK20	chr19:38719047-38720071	PANC-1	pancreas:	n/a	n/a
21	ZBTB7A	chr19:38719477-38720252	ECC-1	luminal epithelium:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
22	CTBP2	chr19:38719154-38720005	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAZ	chr19:38719093-38720928	IMR90	lung:	n/a	chr19:38720133-38720143 chr19:38719671-38719681
24	ZNF143	chr19:38719235-38719503	H1-hESC	embryonic stem cell:	n/a	chr19:38719290-38719308
25	SIN3AK20	chr19:38719200-38719509	PANC-1	pancreas:	n/a	n/a
26	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr19:38719460-38719610	HUVEC	blood vessel:	n/a	chr19:38719523-38719541
28	MAX	chr19:38719096-38719651	A549	lung:	n/a	n/a
29	MAX	chr19:38719096-38719783	A549	lung:	n/a	chr19:38719671-38719681
30	TAF1	chr19:38719045-38720842	H1-neurons	neurons:	n/a	n/a
31	ELF1	chr19:38719207-38719558	K562	blood:	n/a	n/a
32	ELF1	chr19:38719187-38719735	GM12878	blood:	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
ENSG00000167644	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000011332	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
2	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:38718200-38720000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr19:38718400-38719600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr19:38718400-38719600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:38718400-38720600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr19:38718400-38721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:38718600-38719800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr19:38718600-38719800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr19:38718600-38720000	Bivalent Enhancer	Primary T cells from cord blood	blood
12	chr19:38718600-38720200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:38718600-38720600	Active TSS	Brain Angular Gyrus	brain
14	chr19:38718600-38720600	Active TSS	Right Ventricle	heart
15	chr19:38718600-38720800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr19:38718800-38719800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:38718800-38720000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr19:38718800-38720200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:38718800-38720600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:38718800-38720600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:38718800-38720800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:38718800-38720800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:38718800-38720800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:38718800-38721000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:38718800-38721000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr19:38718800-38721200	Active TSS	Brain Germinal Matrix	brain
27	chr19:38718800-38721200	Active TSS	Fetal Brain Female	brain
28	chr19:38719000-38719800	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr19:38719000-38719800	Bivalent Enhancer	Small Intestine	intestine
30	chr19:38719000-38720000	Enhancers	Fetal Heart	heart
31	chr19:38719000-38720600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr19:38719000-38720600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:38719000-38720600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:38719000-38720600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:38719000-38720600	Active TSS	Right Atrium	heart
36	chr19:38719200-38719600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:38719200-38719600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr19:38719200-38719600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:38719200-38719600	Active TSS	Brain Substantia Nigra	brain
40	chr19:38719200-38719600	Enhancers	Pancreas	Pancrea
41	chr19:38719200-38719600	Flanking Active TSS	A549	lung
42	chr19:38719200-38719800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:38719200-38719800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr19:38719200-38719800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:38719200-38719800	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr19:38719200-38719800	Enhancers	Lung	lung
47	chr19:38719200-38719800	Bivalent/Poised TSS	Thymus	Thymus
48	chr19:38719200-38719800	Bivalent Enhancer	Spleen	Spleen
49	chr19:38719200-38720000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr19:38719200-38720000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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