Variant report

Variant	rs552496839
Chromosome Location	chr19:18653223-18653224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr19:18652977-18653488	GM12892	blood:	n/a	chr19:18653270-18653286
2	ZNF143	chr19:18653221-18653334	GM12878	blood:	n/a	n/a
3	YY1	chr19:18653052-18653733	GM12878	blood:	n/a	chr19:18653270-18653286
4	MTA3	chr19:18653095-18653709	GM12878	blood:	n/a	n/a
5	YY1	chr19:18653084-18653450	K562	blood:	n/a	chr19:18653270-18653286
6	YY1	chr19:18653033-18653443	GM12878	blood:	n/a	chr19:18653270-18653286
7	YY1	chr19:18653118-18653404	GM12892	blood:	n/a	chr19:18653270-18653286
8	ZBTB7A	chr19:18653157-18653781	K562	blood:	n/a	n/a
9	POLR2A	chr19:18653035-18653399	K562	blood:	n/a	n/a
10	ZBTB7A	chr19:18653209-18653440	K562	blood:	n/a	n/a
11	YY1	chr19:18653069-18653415	GM12891	blood:	n/a	chr19:18653270-18653286
12	MXI1	chr19:18652812-18654146	SK-N-SH	brain:	n/a	n/a
13	YY1	chr19:18653116-18653316	HCT-116	colon:	n/a	chr19:18653270-18653286
14	MAZ	chr19:18652989-18655214	IMR90	lung:	n/a	n/a
15	YY1	chr19:18653128-18653410	K562	blood:	n/a	chr19:18653270-18653286
16	YY1	chr19:18653103-18653395	SK-N-SH_RA	brain:	n/a	chr19:18653270-18653286
17	POLR2A	chr19:18653092-18653332	K562	blood:	n/a	n/a
18	RUNX3	chr19:18652951-18653383	GM12878	blood:	n/a	n/a
19	MXI1	chr19:18653201-18653331	GM12878	blood:	n/a	n/a
20	RUNX3	chr19:18653013-18653697	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18651038..18656783-chr19:18680897..18685521,14	K562	blood:
2	chr19:18653032..18656930-chr19:18667045..18670995,8	MCF-7	breast:
3	chr19:18651498..18655648-chr19:18680777..18683781,5	MCF-7	breast:
4	chr19:18649378..18653671-chr19:18667425..18670328,5	MCF-7	breast:
5	chr19:18648889..18650815-chr19:18652717..18655388,4	K562	blood:
6	chr19:18640357..18642464-chr19:18650908..18653787,2	MCF-7	breast:
7	chr19:18630875..18635401-chr19:18651200..18655863,9	MCF-7	breast:
8	chr19:18629748..18634724-chr19:18652806..18658264,15	K562	blood:
9	chr19:18642522..18644970-chr19:18651017..18653848,4	K562	blood:
10	chr19:18652388..18655450-chr19:18667016..18670630,4	K562	blood:
11	chr19:18652388..18654838-chr19:18668474..18670630,2	K562	blood:
12	chr19:18629917..18634196-chr19:18652150..18655589,5	MCF-7	breast:
13	chr19:18629959..18634840-chr19:18652830..18656407,13	K562	blood:

No data

Variant related genes	Relation type
FKBP8	TF binding region
ENSG00000221983	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000268938	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000269191	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases
7	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv911285	chr19:18646932-18667472	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv3345432	chr19:18652252-18655950	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv3446773	chr19:18652777-18655825	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
17	esv3395824	chr19:18653052-18655650	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18632800-18654600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18633000-18653400	Weak transcription	Psoas Muscle	Psoas
3	chr19:18633800-18653400	Weak transcription	Fetal Kidney	kidney
4	chr19:18652000-18653600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:18652400-18653400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:18652400-18653600	Enhancers	Fetal Brain Male	brain
7	chr19:18652600-18653600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr19:18652600-18653800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:18652600-18654600	Active TSS	Brain Angular Gyrus	brain
10	chr19:18652800-18653400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:18652800-18653400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:18652800-18653400	Enhancers	Placenta	Placenta
13	chr19:18652800-18653400	Weak transcription	Gastric	stomach
14	chr19:18652800-18653400	Enhancers	Spleen	Spleen
15	chr19:18652800-18653600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:18652800-18653600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr19:18652800-18653600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:18652800-18653600	Enhancers	Fetal Heart	heart
19	chr19:18652800-18653600	Enhancers	Stomach Mucosa	stomach
20	chr19:18652800-18653600	Flanking Active TSS	Dnd41	blood
21	chr19:18652800-18653600	Flanking Active TSS	NHEK	skin
22	chr19:18652800-18653800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:18652800-18653800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr19:18652800-18654800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr19:18652800-18654800	Active TSS	HSMM	muscle
26	chr19:18653000-18653400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr19:18653000-18653400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:18653000-18653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:18653000-18653400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:18653000-18653400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr19:18653000-18653400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr19:18653000-18653400	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr19:18653000-18653400	Flanking Active TSS	Fetal Brain Female	brain
34	chr19:18653000-18653400	Flanking Active TSS	K562	blood
35	chr19:18653000-18653400	Flanking Active TSS	NHLF	lung
36	chr19:18653000-18653600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr19:18653000-18653600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:18653000-18653600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr19:18653000-18653600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr19:18653000-18653600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr19:18653000-18653600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr19:18653000-18653600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr19:18653000-18653600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:18653000-18653600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:18653000-18653600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:18653000-18653600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr19:18653000-18653600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:18653000-18653600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:18653000-18653600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:18653000-18653600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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