Variant report

Variant	rs563497342
Chromosome Location	chr19:39336029-39336030
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39335998-39337235	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:39335891-39336480	HepG2	liver:	n/a	n/a
3	HEY1	chr19:39335973-39337296	K562	blood:	n/a	n/a
4	POLR2A	chr19:39332423-39344383	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:39335979-39336318	K562	blood:	n/a	n/a
6	POLR2A	chr19:39324470-39344503	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr19:39325226-39343915	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:39335867-39336359	K562	blood:	n/a	n/a
9	POLR2A	chr19:39336002-39336404	HL-60	blood:	n/a	n/a
10	POLR2A	chr19:39313168-39344379	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr19:39335876-39337362	GM12892	blood:	n/a	n/a
12	POLR2A	chr19:39335967-39336463	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:39335962-39337280	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:39335949-39337194	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:39336003-39337053	U87	brain:	n/a	n/a
16	POLR2A	chr19:39335961-39337017	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr19:39336020-39336291	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:39335831-39337394	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:39335986-39337267	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:39336005-39336338	HCT-116	colon:	n/a	n/a
21	POLR2A	chr19:39335870-39337320	GM12892	blood:	n/a	n/a
22	POLR2A	chr19:39335969-39337245	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr19:39331012-39342704	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:39335875-39337250	GM12891	blood:	n/a	n/a
25	POLR2A	chr19:39332839-39343744	K562	blood:	n/a	n/a
26	POLR2A	chr19:39336013-39337258	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:39335989-39337284	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr19:39336003-39336391	U87	brain:	n/a	n/a
29	POLR2A	chr19:39335989-39337257	A549	lung:	n/a	n/a
30	POLR2A	chr19:39335982-39337303	GM12891	blood:	n/a	n/a
31	POLR2A	chr19:39335856-39337411	GM12892	blood:	n/a	n/a
32	POLR2A	chr19:39331050-39337334	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr19:39324475-39337293	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr19:39335982-39336555	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39233896..39236050-chr19:39333989..39336048,2	K562	blood:
2	chr19:39306612..39310061-chr19:39334754..39339038,4	K562	blood:
3	chr19:39335285..39337048-chr21:46290079..46292955,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ECH1-5	chr19:39335853-39336139	ENSG00000269688.1

No data

Variant related genes	Relation type
HNRNPL	TF binding region
ENSG00000104823	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1792915	chr19:39335274-39341182	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	n/a
4	esv1794032	chr19:39335274-39341182	Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	n/a
5	nsv911673	chr19:39335274-39365401	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 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	chr19:39324600-39338000	Strong transcription	Fetal Brain Female	brain
2	chr19:39325400-39336800	Strong transcription	Brain Substantia Nigra	brain
3	chr19:39325400-39337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:39325400-39337800	Strong transcription	Brain Cingulate Gyrus	brain
5	chr19:39325400-39338000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:39325400-39338200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:39325400-39338200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:39325600-39338000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:39326000-39336200	Strong transcription	Brain Hippocampus Middle	brain
10	chr19:39326000-39336600	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:39326000-39337000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr19:39326000-39337800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:39326000-39338000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:39326000-39338000	Strong transcription	Brain Anterior Caudate	brain
15	chr19:39326000-39338000	Strong transcription	HSMM	muscle
16	chr19:39326000-39338200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:39326000-39338200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:39326000-39338200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:39326000-39338200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr19:39326000-39338200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:39326000-39338400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:39326000-39338400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:39326000-39338600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr19:39326200-39337000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr19:39326200-39337600	Strong transcription	Ovary	ovary
26	chr19:39326200-39337800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:39326200-39337800	Strong transcription	Right Ventricle	heart
28	chr19:39326200-39337800	Strong transcription	HUVEC	blood vessel
29	chr19:39326200-39337800	Strong transcription	K562	blood
30	chr19:39326200-39338000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:39326200-39338000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr19:39326200-39338200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr19:39326200-39338400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr19:39326200-39338400	Strong transcription	Fetal Kidney	kidney
35	chr19:39326200-39338800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:39326400-39338200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:39326400-39338400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:39326600-39336800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr19:39326600-39337800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:39326600-39338200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:39326800-39336200	Strong transcription	Colon Smooth Muscle	Colon
42	chr19:39326800-39337800	Strong transcription	NH-A	brain
43	chr19:39326800-39338000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:39326800-39338000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:39327000-39337000	Strong transcription	HSMMtube	muscle
46	chr19:39327000-39337800	Strong transcription	Rectal Smooth Muscle	rectum
47	chr19:39327000-39338400	Strong transcription	NHDF-Ad	bronchial
48	chr19:39327600-39337800	Genic enhancers	HepG2	liver
49	chr19:39327600-39338400	Strong transcription	Osteobl	bone
50	chr19:39327800-39338800	Genic enhancers	Liver	Liver

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