Variant report

Variant	rs744309
Chromosome Location	chr19:56630092-56630093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:56629557..56632352-chr19:56654228..56656025,2	K562	blood:
2	chr19:56603070..56605963-chr19:56628065..56630329,2	K562	blood:
3	chr19:56629872..56632038-chr19:56819906..56821500,2	MCF-7	breast:
4	chr19:56629808..56631953-chr19:56643126..56645330,2	K562	blood:
5	chr19:56627257..56634581-chr19:56650310..56656612,28	MCF-7	breast:
6	chr19:56629593..56636020-chr19:56650029..56654099,17	K562	blood:
7	chr19:56629946..56632652-chr19:56657182..56659175,2	K562	blood:
8	chr19:56629593..56635165-chr19:56650391..56656450,20	K562	blood:
9	chr19:56629015..56635457-chr19:56649954..56657591,25	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6509983	0.90[AMR][1000 genomes]
rs7253923	0.84[AMR][1000 genomes]
rs7254130	0.81[AMR][1000 genomes]
rs7254265	0.83[AMR][1000 genomes]
rs7260339	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv912512	chr19:56592286-56636759	Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912514	chr19:56596815-56636759	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
15	esv1809307	chr19:56604027-56633623	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	esv1811581	chr19:56609313-56631618	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
17	esv1824038	chr19:56610449-56636632	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:56620400-56631000	Enhancers	Pancreas	Pancrea
3	chr19:56620800-56630400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr19:56620800-56631000	Weak transcription	Aorta	Aorta
5	chr19:56622600-56630400	Weak transcription	Osteobl	bone
6	chr19:56622800-56630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:56622800-56630400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:56623000-56631400	Genic enhancers	Spleen	Spleen
9	chr19:56623600-56630200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:56623600-56630400	Weak transcription	HMEC	breast
11	chr19:56623600-56630600	Weak transcription	HSMMtube	muscle
12	chr19:56624200-56631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr19:56624600-56631200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:56624800-56630200	Weak transcription	Fetal Brain Male	brain
15	chr19:56624800-56630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:56625000-56630400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:56625000-56630400	Weak transcription	HSMM	muscle
18	chr19:56625000-56631000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:56625000-56631000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:56625000-56631000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:56625400-56631000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:56625400-56631200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:56625600-56630800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:56626200-56630800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr19:56626400-56630200	Weak transcription	Fetal Lung	lung
26	chr19:56626400-56630400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:56626400-56630400	Genic enhancers	Right Ventricle	heart
28	chr19:56626400-56630600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:56626400-56631000	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr19:56626600-56630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:56626600-56630800	Weak transcription	Primary T cells from cord blood	blood
32	chr19:56626600-56631000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:56627000-56630400	Genic enhancers	Liver	Liver
34	chr19:56627200-56630400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:56627400-56630400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr19:56627400-56630800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:56627400-56630800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:56627400-56631000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:56627800-56631000	Enhancers	Brain Angular Gyrus	brain
40	chr19:56628000-56630200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:56628000-56630200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr19:56628000-56630600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:56628000-56630600	Genic enhancers	Fetal Intestine Small	intestine
44	chr19:56628000-56630800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr19:56628000-56631000	Genic enhancers	Fetal Intestine Large	intestine
46	chr19:56628000-56631200	Genic enhancers	Fetal Stomach	stomach
47	chr19:56628000-56631600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr19:56628200-56630200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:56628200-56630200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:56628200-56631000	Enhancers	Left Ventricle	heart

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