Variant report

Variant	rs187271618
Chromosome Location	chr19:38720956-38720957
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:38720140-38721150	IMR90	lung:	n/a	n/a
2	SIX5	chr19:38720201-38721029	A549	lung:	n/a	n/a
3	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
4	FOSL2	chr19:38720547-38720956	A549	lung:	n/a	n/a
5	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556
6	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
7	ATF3	chr19:38720409-38721016	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38711348..38714655-chr19:38718716..38721513,3	MCF-7	breast:
2	chr19:38720504..38722100-chr19:38877148..38880133,2	K562	blood:
3	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
4	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
5	chr19:38720388..38721001-chr19:38825841..38826415,2	K562	blood:
6	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
7	chr19:38713393..38715847-chr19:38720638..38723523,2	K562	blood:
8	chr19:38720592..38722293-chr19:38724613..38726835,2	MCF-7	breast:
9	chr19:38720868..38723162-chr19:38725359..38727589,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000167644	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3405182	chr19:38719137-38721685	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38718400-38721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:38718800-38721000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:38718800-38721000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr19:38718800-38721200	Active TSS	Brain Germinal Matrix	brain
5	chr19:38718800-38721200	Active TSS	Fetal Brain Female	brain
6	chr19:38719200-38721000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:38719200-38721000	Active TSS	Brain Cingulate Gyrus	brain
8	chr19:38719400-38721000	Active TSS	Brain Anterior Caudate	brain
9	chr19:38720000-38721000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:38720000-38724600	Weak transcription	Fetal Heart	heart
11	chr19:38720600-38721000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:38720600-38721000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:38720600-38721000	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr19:38720600-38740400	Weak transcription	Right Atrium	heart
15	chr19:38720800-38721000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:38720800-38721000	Enhancers	Brain Hippocampus Middle	brain
17	chr19:38720800-38721000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr19:38720800-38721000	Flanking Active TSS	Fetal Brain Male	brain
19	chr19:38720800-38724600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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