Variant report

Variant	rs562023814
Chromosome Location	chr19:37743098-37743099
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	GABPA	chr19:37742110-37743271	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr19:37742328-37743109	ProgFib	skin:	n/a	n/a
3	MAZ	chr19:37742163-37743219	IMR90	lung:	n/a	chr19:37742770-37742780
4	POLR2A	chr19:37742058-37743254	PFSK-1	brain:	n/a	n/a
5	YY1	chr19:37742356-37743130	SK-N-SH	brain:	n/a	n/a
6	GABPA	chr19:37742230-37743209	SK-N-SH	brain:	n/a	n/a
7	GABPA	chr19:37742115-37743535	MCF-7	breast:	n/a	n/a
8	GABPA	chr19:37742233-37743248	MCF-7	breast:	n/a	n/a
9	PBX3	chr19:37742115-37743165	SK-N-SH	brain:	n/a	n/a
10	MAX	chr19:37742192-37743129	SK-N-SH	brain:	n/a	chr19:37742770-37742780
11	POLR2A	chr19:37742520-37743115	HUVEC	blood vessel:	n/a	n/a
12	GABPA	chr19:37742156-37743304	HL-60	blood:	n/a	n/a
13	GABPA	chr19:37742262-37743161	HL-60	blood:	n/a	n/a
14	POLR2A	chr19:37742219-37743119	HL-60	blood:	n/a	n/a
15	REST	chr19:37742313-37743183	HL-60	blood:	n/a	chr19:37742545-37742558
16	POLR2A	chr19:37742154-37743155	SK-N-MC	brain:	n/a	n/a
17	KAP1	chr19:37742249-37743110	HEK293	kidney:	n/a	n/a
18	POLR2A	chr19:37742342-37743115	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:37742147-37743098	HL-60	blood:	n/a	n/a
20	POLR2A	chr19:37742178-37743130	PFSK-1	brain:	n/a	n/a
21	MXI1	chr19:37741979-37743794	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37740273..37743128-chr19:37823150..37825762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226686	TF binding region
ENSG00000181666	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv960834	chr19:37742831-37749967	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
2	chr19:37725000-37743600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37741200-37743800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr19:37741200-37744000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37741200-37745600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:37741400-37743200	Active TSS	Brain Germinal Matrix	brain
7	chr19:37741400-37743200	ZNF genes & repeats	Colonic Mucosa	Colon
8	chr19:37741400-37743200	ZNF genes & repeats	GM12878-XiMat	blood
9	chr19:37741400-37743400	Active TSS	Brain Anterior Caudate	brain
10	chr19:37741400-37743400	Active TSS	Brain Cingulate Gyrus	brain
11	chr19:37741400-37743400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:37741400-37743400	Active TSS	Fetal Lung	lung
13	chr19:37741400-37743600	Active TSS	Right Atrium	heart
14	chr19:37741400-37743800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr19:37741400-37743800	Active TSS	Brain Substantia Nigra	brain
16	chr19:37741400-37743800	Active TSS	Fetal Kidney	kidney
17	chr19:37741600-37743400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:37741600-37743600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr19:37741600-37743600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:37741600-37743600	ZNF genes & repeats	HSMMtube	muscle
21	chr19:37741600-37749200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:37741800-37743400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr19:37741800-37743400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:37741800-37743400	Active TSS	Brain Hippocampus Middle	brain
25	chr19:37741800-37743400	Active TSS	Fetal Brain Female	brain
26	chr19:37741800-37743600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:37741800-37743600	Active TSS	NHDF-Ad	bronchial
28	chr19:37741800-37744000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:37742000-37743200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:37742000-37743200	Active TSS	Fetal Brain Male	brain
31	chr19:37742000-37743200	Active TSS	Fetal Muscle Trunk	muscle
32	chr19:37742000-37743200	Active TSS	Stomach Smooth Muscle	stomach
33	chr19:37742000-37743200	ZNF genes & repeats	HSMM	muscle
34	chr19:37742000-37743400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:37742000-37743400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:37742000-37743400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:37742000-37743400	Active TSS	Fetal Muscle Leg	muscle
38	chr19:37742000-37743400	Active TSS	Fetal Stomach	stomach
39	chr19:37742000-37743400	Active TSS	Right Ventricle	heart
40	chr19:37742000-37743600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr19:37742000-37743600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:37742000-37743600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:37742000-37743600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr19:37742000-37743600	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr19:37742000-37743600	ZNF genes & repeats	HMEC	breast
46	chr19:37742000-37743600	Active TSS	NH-A	brain
47	chr19:37742000-37743600	Active TSS	NHLF	lung
48	chr19:37742000-37743600	Active TSS	Osteobl	bone
49	chr19:37742000-37743800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:37742000-37743800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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