Variant report

Variant	rs553474373
Chromosome Location	chr19:40337808-40337809
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	chr19:40335834-40337911	A549	lung:	n/a	chr19:40337343-40337363 chr19:40337343-40337363
2	POLR2A	chr19:40336042-40338044	SK-N-MC	brain:	n/a	n/a
3	PML	chr19:40337545-40337992	K562	blood:	n/a	n/a
4	POLR2A	chr19:40336375-40338177	HepG2	liver:	n/a	n/a
5	TEAD4	chr19:40336777-40338097	K562	blood:	n/a	n/a
6	ZMIZ1	chr19:40337624-40337813	K562	blood:	n/a	n/a
7	GABPA	chr19:40337553-40337877	K562	blood:	n/a	n/a
8	PML	chr19:40336704-40337871	K562	blood:	n/a	n/a
9	HCFC1	chr19:40336735-40337870	K562	blood:	n/a	n/a
10	RCOR1	chr19:40337155-40338022	K562	blood:	n/a	n/a
11	POLR2A	chr19:40336294-40337877	K562	blood:	n/a	n/a
12	MAX	chr19:40334506-40337825	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
13	POLR2A	chr19:40337566-40337901	K562	blood:	n/a	n/a
14	MXI1	chr19:40336790-40337905	K562	blood:	n/a	n/a
15	MYC	chr19:40334790-40338257	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
16	TBL1XR1	chr19:40336948-40337893	K562	blood:	n/a	n/a
17	POLR2A	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a
18	NR2F2	chr19:40336195-40338018	K562	blood:	n/a	n/a
19	UBTF	chr19:40337626-40337943	K562	blood:	n/a	n/a
20	CEBPD	chr19:40336651-40338130	K562	blood:	n/a	n/a
21	E2F6	chr19:40336116-40337933	H1-hESC	embryonic stem cell:	n/a	chr19:40336371-40336378 chr19:40336371-40336378 chr19:40336367-40336379 chr19:40337100-40337109 chr19:40336368-40336379 chr19:40337021-40337030 chr19:40336371-40336378
22	EP300	chr19:40337190-40337978	K562	blood:	n/a	n/a
23	BCL3	chr19:40335911-40337944	A549	lung:	n/a	chr19:40337140-40337153 chr19:40337204-40337213
24	MAZ	chr19:40337601-40337962	K562	blood:	n/a	n/a
25	IRF1	chr19:40336786-40337955	K562	blood:	n/a	chr19:40337204-40337224 chr19:40337206-40337220 chr19:40336845-40336859 chr19:40337275-40337292 chr19:40337061-40337075
26	SIN3AK20	chr19:40332892-40340524	PANC-1	pancreas:	n/a	n/a
27	UBTF	chr19:40336839-40337911	K562	blood:	n/a	n/a
28	GATA2	chr19:40337555-40337985	K562	blood:	n/a	n/a
29	TBP	chr19:40336656-40337943	K562	blood:	n/a	n/a
30	MYC	chr19:40336192-40338009	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
31	GATA2	chr19:40337460-40338016	K562	blood:	n/a	n/a
32	MYC	chr19:40336050-40337953	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
33	CTCF	chr19:40334289-40338535	A549	lung:	n/a	chr19:40336774-40336782 chr19:40336634-40336647
34	HCFC1	chr19:40336050-40338190	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr19:40336833-40337999	K562	blood:	n/a	n/a
36	NRF1	chr19:40336689-40337865	SK-N-SH	brain:	n/a	chr19:40337020-40337034 chr19:40337096-40337110 chr19:40337020-40337031 chr19:40337020-40337031 chr19:40337099-40337113 chr19:40337099-40337110 chr19:40337027-40337036
37	REST	chr19:40337575-40337915	K562	blood:	n/a	n/a
38	TRIM28	chr19:40337425-40338006	K562	blood:	n/a	n/a
39	HDAC2	chr19:40337606-40337930	K562	blood:	n/a	n/a
40	MAX	chr19:40337600-40337883	K562	blood:	n/a	n/a
41	SIX5	chr19:40336100-40337891	A549	lung:	n/a	n/a
42	MYC	chr19:40336277-40338032	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
43	SIN3AK20	chr19:40334304-40340581	PANC-1	pancreas:	n/a	n/a
44	MYC	chr19:40336360-40337904	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
45	POLR2A	chr19:40336785-40337907	HCT-116	colon:	n/a	n/a
46	TBL1XR1	chr19:40337204-40338090	K562	blood:	n/a	n/a
47	POLR2A	chr19:40337609-40338066	ECC-1	luminal epithelium:	n/a	n/a
48	MAFK	chr19:40337082-40337921	K562	blood:	n/a	n/a
49	MXI1	chr19:40335904-40338023	SK-N-SH	brain:	n/a	n/a
50	TEAD4	chr19:40337467-40338002	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40337132..40339013-chr19:40340235..40342919,2	MCF-7	breast:
2	chr19:40330455..40332873-chr19:40336316..40338752,3	MCF-7	breast:
3	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
4	chr19:40337506..40339114-chr19:40356435..40358897,2	MCF-7	breast:
5	chr19:40322842..40325581-chr19:40335629..40338491,6	MCF-7	breast:
6	chr19:40337126..40339206-chr19:40352976..40355937,2	K562	blood:
7	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
8	chr19:40294943..40296744-chr19:40337305..40340033,2	MCF-7	breast:
9	chr19:39925314..39927864-chr19:40336547..40338108,2	K562	blood:
10	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
11	chr19:39926041..39928299-chr19:40334872..40337810,2	MCF-7	breast:

Variant related genes	Relation type
FBL	TF binding region
ENSG00000105193	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000105204	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000013275	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	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1008734	chr19:40337724-40338205	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40335800-40338000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr19:40336600-40338400	Active TSS	Stomach Mucosa	stomach
3	chr19:40337200-40338000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:40337200-40338000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:40337200-40338000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:40337200-40338000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr19:40337200-40338000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr19:40337200-40338000	Flanking Active TSS	HepG2	liver
9	chr19:40337200-40338000	Flanking Active TSS	NHEK	skin
10	chr19:40337200-40338200	Flanking Active TSS	K562	blood
11	chr19:40337200-40338400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:40337400-40338000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:40337400-40338000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:40337400-40338000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:40337400-40338000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:40337400-40338000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:40337400-40338000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:40337400-40338000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:40337400-40338000	Enhancers	Spleen	Spleen
20	chr19:40337400-40338000	Enhancers	NHLF	lung
21	chr19:40337400-40338200	Enhancers	Gastric	stomach
22	chr19:40337400-40338400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr19:40337400-40338600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:40337600-40338000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:40337600-40338000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:40337600-40338000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:40337600-40338000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:40337600-40338000	Enhancers	Primary B cells from cord blood	blood
29	chr19:40337600-40338000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr19:40337600-40338000	Enhancers	Primary hematopoietic stem cells	blood
31	chr19:40337600-40338000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr19:40337600-40338000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr19:40337600-40338000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:40337600-40338000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr19:40337600-40338000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:40337600-40338000	Enhancers	Liver	Liver
37	chr19:40337600-40338000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr19:40337600-40338000	Enhancers	Fetal Thymus	thymus
39	chr19:40337600-40338000	Enhancers	Left Ventricle	heart
40	chr19:40337600-40338000	Enhancers	Pancreas	Pancrea
41	chr19:40337600-40338000	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr19:40337600-40338000	Enhancers	Right Ventricle	heart
43	chr19:40337600-40338000	Enhancers	HMEC	breast
44	chr19:40337600-40338000	Enhancers	NHDF-Ad	bronchial
45	chr19:40337600-40338200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr19:40337600-40338200	Enhancers	Primary T cells from cord blood	blood
47	chr19:40337600-40338200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr19:40337600-40338200	Enhancers	Colon Smooth Muscle	Colon
49	chr19:40337600-40338400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:40337600-40338400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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