Variant report

Variant	rs548697923
Chromosome Location	chr19:39410110-39410111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39409584-39410335	K562	blood:	n/a	n/a
2	POLR2A	chr19:39409939-39410148	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:39409823-39410689	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:39410035-39410387	A549	lung:	n/a	n/a
5	POLR2A	chr19:39410097-39410573	HL-60	blood:	n/a	n/a
6	POLR2A	chr19:39410066-39410195	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:39409944-39410117	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr19:39409899-39410470	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:39409896-39410560	K562	blood:	n/a	n/a
10	POLR2A	chr19:39402657-39410674	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr19:39409866-39410261	PFSK-1	brain:	n/a	n/a
12	BCL3	chr19:39409840-39410477	A549	lung:	n/a	n/a
13	POLR2A	chr19:39410022-39410161	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:39399024-39410741	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr19:39410031-39410378	K562	blood:	n/a	n/a
16	POLR2A	chr19:39409885-39410854	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:39388836..39392687-chr19:39409083..39412619,5	K562	blood:
2	chr19:39339873..39342860-chr19:39409643..39412054,2	MCF-7	breast:
3	chr19:39390485..39392144-chr19:39409724..39411734,2	MCF-7	breast:

No data

Variant related genes	Relation type
SARS2	TF binding region
ENSG00000104825	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000068903	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3378202	chr19:39409312-39413510	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
2	chr19:39391600-39414800	Weak transcription	HMEC	breast
3	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
4	chr19:39391800-39412200	Weak transcription	Osteobl	bone
5	chr19:39392400-39414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:39392600-39414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:39392600-39418800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:39395600-39414800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:39395600-39415000	Weak transcription	Hela-S3	cervix
10	chr19:39396800-39412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:39397000-39412200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:39398000-39412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:39398000-39420600	Weak transcription	Psoas Muscle	Psoas
14	chr19:39398200-39412200	Weak transcription	Brain Angular Gyrus	brain
15	chr19:39398400-39411600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:39398600-39410200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:39398600-39415000	Weak transcription	Brain Substantia Nigra	brain
18	chr19:39398800-39411600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:39398800-39412000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:39398800-39412200	Weak transcription	NHEK	skin
21	chr19:39398800-39412400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:39398800-39415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:39399000-39412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:39399800-39412200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:39399800-39412200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr19:39399800-39414800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr19:39399800-39414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:39400000-39412000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr19:39400000-39412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr19:39400000-39412200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:39400000-39412200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:39400000-39412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:39400000-39414200	Weak transcription	Left Ventricle	heart
34	chr19:39400200-39412000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:39400200-39412000	Weak transcription	Aorta	Aorta
36	chr19:39400200-39412600	Weak transcription	Primary B cells from cord blood	blood
37	chr19:39400200-39412800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:39401000-39412000	Weak transcription	Gastric	stomach
39	chr19:39402400-39412200	Weak transcription	Right Ventricle	heart
40	chr19:39402800-39420200	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:39403000-39412000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:39403000-39412000	Weak transcription	NHLF	lung
43	chr19:39403000-39412400	Weak transcription	Fetal Thymus	thymus
44	chr19:39403000-39415000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:39403400-39412000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:39403400-39412200	Weak transcription	Brain Anterior Caudate	brain
47	chr19:39403400-39412400	Weak transcription	Fetal Brain Female	brain
48	chr19:39403600-39412400	Weak transcription	Fetal Lung	lung
49	chr19:39403600-39412400	Weak transcription	GM12878-XiMat	blood
50	chr19:39403600-39420400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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