Variant report

Variant	rs2562509
Chromosome Location	chr19:55659237-55659238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55657243-55659733	K562	blood:	n/a	n/a
2	ZNF263	chr19:55658068-55659731	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr19:55658990-55659285	HCT-116	colon:	n/a	n/a
4	ZBTB7A	chr19:55658782-55659370	K562	blood:	n/a	n/a
5	ZBTB7A	chr19:55658968-55659562	K562	blood:	n/a	chr19:55659541-55659555

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:55657471..55659943-chr19:55683212..55685599,2	K562	blood:
2	chr19:55627599..55630640-chr19:55656141..55660358,7	K562	blood:
3	chr19:55657720..55659447-chr19:55670409..55672561,2	MCF-7	breast:
4	chr19:55657829..55659690-chr19:55769331..55772164,2	K562	blood:
5	chr19:55658330..55661734-chr19:55662329..55665982,4	MCF-7	breast:
6	chr19:55626891..55629240-chr19:55658482..55660842,2	MCF-7	breast:
7	chr19:55658387..55665037-chr19:55666866..55670836,8	K562	blood:
8	chr19:55627369..55630419-chr19:55655174..55659516,5	K562	blood:
9	chr19:55658103..55660151-chr19:55660469..55663163,2	K562	blood:

No data

Variant related genes	Relation type
TNNT1	TF binding region
ENSG00000267110	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000167646	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12611382	1.00[LWK][hapmap]
rs2301279	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs2560946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv3389006	chr19:55631189-55660347	Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55646400-55662400	Weak transcription	Right Atrium	heart
2	chr19:55655800-55660400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr19:55656800-55659600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:55657000-55659600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:55657200-55659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:55657200-55661400	Active TSS	Psoas Muscle	Psoas
7	chr19:55657400-55659400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:55657600-55661600	Enhancers	Fetal Heart	heart
9	chr19:55658000-55659600	Bivalent Enhancer	Fetal Stomach	stomach
10	chr19:55658000-55661000	Active TSS	HSMMtube	muscle
11	chr19:55658400-55659800	Bivalent Enhancer	Placenta	Placenta
12	chr19:55658400-55660800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:55658600-55659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:55658600-55659600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr19:55658600-55659800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:55658600-55661600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:55658600-55663000	Weak transcription	Right Ventricle	heart
18	chr19:55658800-55659400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:55658800-55659600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:55658800-55660200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr19:55658800-55660200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:55658800-55660400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:55658800-55660400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:55658800-55660600	Enhancers	Hela-S3	cervix
25	chr19:55658800-55662000	Enhancers	A549	lung
26	chr19:55658800-55662600	Enhancers	K562	blood
27	chr19:55659000-55659400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:55659000-55659400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:55659000-55659800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr19:55659000-55660000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:55659200-55659400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:55659200-55659600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:55659200-55659600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
34	chr19:55659200-55659800	Flanking Active TSS	HSMM	muscle
35	chr19:55659200-55661400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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