Variant report

Variant	rs368612543
Chromosome Location	chr19:45253838-45253839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45253710-45255003	GM12878	blood:	n/a	n/a
2	EBF1	chr19:45253730-45254163	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:45253836-45254929	U87	brain:	n/a	n/a
4	RUNX3	chr19:45253747-45254322	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:45253791-45254909	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:45253724-45254828	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:45253836-45254892	U87	brain:	n/a	n/a
8	POLR2A	chr19:45253546-45253858	HepG2	liver:	n/a	n/a
9	PAX5	chr19:45253785-45254229	GM12878	blood:	n/a	chr19:45254068-45254077
10	PAX5	chr19:45253764-45254348	GM12878	blood:	n/a	chr19:45254068-45254077

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:45150946..45153817-chr19:45251773..45254167,2	MCF-7	breast:
2	chr19:45251797..45254336-chr19:45349633..45353327,3	K562	blood:
3	chr19:45175686..45178014-chr19:45252899..45254725,2	MCF-7	breast:
4	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
5	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
6	chr19:45252053..45254233-chr19:45351379..45354120,2	MCF-7	breast:
7	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
8	chr19:45198197..45200350-chr19:45252403..45254162,3	K562	blood:
9	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:

No data

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000186567	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000187244	Chromatin interaction
ENSG00000252200	Chromatin interaction
ENSG00000073008	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	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv2506	chr19:45253263-45297811	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr19:45251600-45254800	Active TSS	Brain Hippocampus Middle	brain
3	chr19:45252000-45254200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr19:45252200-45255000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr19:45252400-45254000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr19:45252400-45254200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:45252600-45254000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:45252600-45254000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:45252800-45254000	Flanking Active TSS	Colonic Mucosa	Colon
10	chr19:45252800-45254200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:45252800-45254400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr19:45252800-45254800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
13	chr19:45252800-45256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:45253000-45254200	Flanking Active TSS	Right Ventricle	heart
15	chr19:45253000-45254600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:45253000-45254800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:45253000-45255200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
18	chr19:45253000-45256000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr19:45253000-45256000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:45253000-45256200	Weak transcription	Brain Substantia Nigra	brain
21	chr19:45253000-45256600	Transcr. at gene 5' and 3'	A549	lung
22	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
24	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
25	chr19:45253000-45257200	Weak transcription	Aorta	Aorta
26	chr19:45253200-45254200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:45253200-45254200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:45253200-45254200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr19:45253200-45254600	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Esophagus	oesophagus
33	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
34	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Placenta	Placenta
35	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Gastric	stomach
36	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Left Ventricle	heart
37	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
38	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Spleen	Spleen
39	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Osteobl	bone
40	chr19:45253200-45255000	Transcr. at gene 5' and 3'	Pancreas	Pancrea
41	chr19:45253200-45255200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
42	chr19:45253200-45255200	Transcr. at gene 5' and 3'	NHLF	lung
43	chr19:45253200-45255800	Weak transcription	K562	blood
44	chr19:45253200-45256000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr19:45253200-45256000	Weak transcription	Brain Angular Gyrus	brain
46	chr19:45253200-45256000	Strong transcription	Fetal Stomach	stomach
47	chr19:45253200-45256200	Weak transcription	Fetal Kidney	kidney
48	chr19:45253200-45256600	Transcr. at gene 5' and 3'	Liver	Liver
49	chr19:45253400-45254000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:45253400-45254000	Active TSS	Stomach Smooth Muscle	stomach

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