Variant report

Variant	rs57719241
Chromosome Location	chr19:41945034-41945035
allele	C/T
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:14)
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	POLR2A	chr19:41945034-41945061	K562	blood:	n/a	n/a
2	GATA3	chr19:41944818-41945054	SH-SY5Y	brain:	n/a	n/a
3	CTCF	chr19:41945030-41946553	SK-N-SH	brain:	n/a	chr19:41945823-41945836
4	REST	chr19:41944925-41946245	H1-neurons	neurons:	n/a	n/a
5	HCFC1	chr19:41944890-41946158	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr19:41944770-41947242	A549	lung:	n/a	chr19:41945823-41945836
7	SIX5	chr19:41944992-41946602	A549	lung:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41944180..41946970-chr7:80547778..80549990,2	MCF-7	breast:
2	chr19:41857565..41861683-chr19:41942530..41947234,4	MCF-7	breast:
3	chr19:41859512..41861303-chr19:41943975..41945825,3	K562	blood:
4	chr19:41944238..41947062-chr19:41948910..41951983,5	K562	blood:
5	chr19:41930070..41932098-chr19:41944342..41947114,3	K562	blood:
6	chr19:41931962..41935414-chr19:41944317..41947167,6	MCF-7	breast:
7	chr19:41868336..41870018-chr19:41944233..41946275,2	K562	blood:
8	chr19:41944280..41946189-chr19:42004239..42006678,2	K562	blood:
9	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
10	chr19:41940773..41942496-chr19:41944318..41947193,2	MCF-7	breast:
11	chr19:41901938..41905441-chr19:41944047..41947443,5	K562	blood:
12	chr19:41868336..41871272-chr19:41944233..41948538,5	K562	blood:
13	chr19:41944614..41946975-chr19:41948804..41950642,2	MCF-7	breast:
14	chr1:226111283..226112258-chr19:41945016..41945997,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ATP5SL	TF binding region
C19orf69	TF binding region
ENSG00000077348	Chromatin interaction
ENSG00000268475	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000075223	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000204978	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000267107	Chromatin interaction

rs_ID	r²[population]
rs2231946	0.88[AFR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41934800-41945400	Weak transcription	Small Intestine	intestine
2	chr19:41938800-41945200	Weak transcription	Right Atrium	heart
3	chr19:41939400-41945200	Weak transcription	Colonic Mucosa	Colon
4	chr19:41939600-41945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:41939600-41945200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:41939600-41945400	Weak transcription	Gastric	stomach
7	chr19:41942400-41945200	Weak transcription	Aorta	Aorta
8	chr19:41942800-41945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:41943000-41945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:41943800-41945200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:41944000-41945200	Weak transcription	Ovary	ovary
12	chr19:41944200-41945200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr19:41944200-41945200	Weak transcription	Placenta	Placenta
14	chr19:41944200-41945200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr19:41944200-41945400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:41944400-41945200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:41944400-41945200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:41944400-41945200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:41944400-41945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:41944400-41945200	Enhancers	Brain Hippocampus Middle	brain
21	chr19:41944400-41945200	Enhancers	Fetal Heart	heart
22	chr19:41944400-41945200	Weak transcription	Left Ventricle	heart
23	chr19:41944400-41945200	Weak transcription	Pancreas	Pancrea
24	chr19:41944400-41945400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:41944400-41945400	Weak transcription	Esophagus	oesophagus
26	chr19:41944400-41945400	Weak transcription	Lung	lung
27	chr19:41944400-41945400	Weak transcription	Spleen	Spleen
28	chr19:41944400-41945400	Flanking Active TSS	Dnd41	blood
29	chr19:41944600-41945200	Flanking Active TSS	A549	lung
30	chr19:41944800-41945200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:41944800-41945200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:41944800-41945200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr19:41944800-41945200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:41944800-41945200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr19:41944800-41945200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr19:41944800-41945200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:41944800-41945200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr19:41944800-41945200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:41944800-41945200	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr19:41944800-41945200	Enhancers	Fetal Lung	lung
41	chr19:41944800-41945200	Enhancers	Fetal Muscle Leg	muscle
42	chr19:41944800-41945200	Enhancers	Fetal Thymus	thymus
43	chr19:41944800-41945200	Flanking Active TSS	HepG2	liver
44	chr19:41944800-41945400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:41944800-41945400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr19:41944800-41945400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:41944800-41945400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr19:41944800-41945400	Flanking Active TSS	Hela-S3	cervix
49	chr19:41944800-41945400	Flanking Active TSS	NHEK	skin
50	chr19:41944800-41945600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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