Variant report

Variant	rs372394219
Chromosome Location	chr11:73017711-73017712
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:73017544-73019354	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
2	SMC3	chr11:73016942-73021131	SK-N-SH	brain:	n/a	chr11:73018484-73018498 chr11:73017587-73017594 chr11:73019010-73019017
3	CTCF	chr11:73017619-73020165	SK-N-SH	brain:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505 chr11:73019470-73019483
4	POLR2A	chr11:73017434-73017819	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:73017345-73017868	ECC-1	luminal epithelium:	n/a	n/a
6	RCOR1	chr11:73017408-73021448	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73017499..73019012-chr11:73106974..73109687,2	MCF-7	breast:
2	chr11:73012187..73014199-chr11:73016875..73018746,2	K562	blood:
3	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
4	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
5	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
6	chr11:73000325..73002595-chr11:73016904..73019297,2	MCF-7	breast:
7	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:
8	chr11:73017077..73020076-chr11:73086849..73089366,3	K562	blood:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000054967	Chromatin interaction
ENSG00000256928	Chromatin interaction
ENSG00000171631	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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3440775	chr11:73017529-73020077	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
2	chr11:73006600-73018000	Weak transcription	Right Atrium	heart
3	chr11:73007000-73017800	Weak transcription	Osteobl	bone
4	chr11:73008200-73017800	Weak transcription	Right Ventricle	heart
5	chr11:73012400-73017800	Weak transcription	HSMMtube	muscle
6	chr11:73016600-73018000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:73016600-73018000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:73016800-73018200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:73017000-73017800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr11:73017000-73018000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:73017000-73018000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr11:73017000-73018000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73017000-73018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:73017000-73018800	Enhancers	Spleen	Spleen
15	chr11:73017200-73017800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr11:73017200-73017800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:73017200-73017800	Enhancers	HepG2	liver
18	chr11:73017200-73018000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:73017200-73018000	Enhancers	Primary B cells from cord blood	blood
20	chr11:73017200-73018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:73017200-73018000	Enhancers	Colon Smooth Muscle	Colon
22	chr11:73017200-73018200	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:73017200-73018800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:73017400-73017800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr11:73017400-73018000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:73017400-73018000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:73017400-73018000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:73017400-73018000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr11:73017400-73018000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:73017400-73018000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:73017400-73018000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr11:73017400-73018000	Enhancers	Fetal Intestine Large	intestine
33	chr11:73017400-73018000	Enhancers	Fetal Intestine Small	intestine
34	chr11:73017400-73018000	Enhancers	Fetal Muscle Leg	muscle
35	chr11:73017400-73018000	Enhancers	A549	lung
36	chr11:73017400-73018000	Enhancers	HMEC	breast
37	chr11:73017400-73018000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr11:73017400-73018200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:73017400-73018200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:73017400-73018200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:73017400-73018200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr11:73017400-73018200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:73017400-73018200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:73017400-73018200	Enhancers	Fetal Muscle Trunk	muscle
45	chr11:73017400-73018200	Enhancers	Placenta	Placenta
46	chr11:73017400-73018200	Enhancers	Fetal Thymus	thymus
47	chr11:73017400-73018400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:73017600-73017800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:73017600-73017800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr11:73017600-73017800	Enhancers	Hela-S3	cervix

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