Variant report

Variant	rs377301840
Chromosome Location	chr2:190650856-190650857
allele	-/AAAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:190650835-190650931	K562	blood:	n/a	n/a
2	POLR2A	chr2:190648136-190651362	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190615675..190618614-chr2:190648414..190651811,3	K562	blood:
2	chr2:190649682..190653858-chr2:190657943..190661151,4	K562	blood:
3	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
4	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
5	chr2:190523468..190528374-chr2:190647262..190651485,5	K562	blood:
6	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
7	chr2:190626375..190630628-chr2:190647839..190651386,6	MCF-7	breast:

No data

Variant related genes	Relation type
ORMDL1	TF binding region
ENSG00000273240	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000138381	Chromatin interaction
ENSG00000223249	Chromatin interaction
ENSG00000253559	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875616	chr2:190650460-190656614	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190647400-190651200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:190647600-190651000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:190649000-190651000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:190649600-190656200	Weak transcription	Spleen	Spleen
5	chr2:190649600-190658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:190649800-190651000	Flanking Active TSS	Dnd41	blood
7	chr2:190649800-190657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:190649800-190658600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:190649800-190662200	Weak transcription	Aorta	Aorta
10	chr2:190649800-190662200	Weak transcription	Left Ventricle	heart
11	chr2:190649800-190662800	Weak transcription	Lung	lung
12	chr2:190649800-190667200	Weak transcription	Pancreas	Pancrea
13	chr2:190649800-190675200	Weak transcription	Esophagus	oesophagus
14	chr2:190649800-190713400	Weak transcription	Gastric	stomach
15	chr2:190650000-190651000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:190650000-190651000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:190650000-190656000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:190650000-190657000	Weak transcription	Placenta	Placenta
19	chr2:190650000-190688200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:190650200-190651000	Enhancers	Primary B cells from cord blood	blood
21	chr2:190650200-190651000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:190650200-190651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:190650200-190651200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:190650200-190656400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:190650200-190656800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:190650200-190657600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:190650200-190658600	Weak transcription	Ovary	ovary
28	chr2:190650200-190662800	Weak transcription	Psoas Muscle	Psoas
29	chr2:190650200-190668200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:190650200-190669200	Weak transcription	Right Ventricle	heart
31	chr2:190650200-190673000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:190650200-190673200	Weak transcription	Small Intestine	intestine
33	chr2:190650400-190651000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:190650400-190651000	Genic enhancers	Fetal Muscle Leg	muscle
35	chr2:190650400-190651200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:190650400-190651200	Enhancers	Brain Germinal Matrix	brain
37	chr2:190650400-190651400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:190650400-190651400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:190650400-190651800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:190650400-190652000	Weak transcription	NH-A	brain
41	chr2:190650400-190652200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:190650400-190652400	Weak transcription	NHDF-Ad	bronchial
43	chr2:190650400-190652600	Weak transcription	Liver	Liver
44	chr2:190650400-190652800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:190650400-190653400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:190650400-190656200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:190650400-190656400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:190650400-190656400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:190650400-190656400	Weak transcription	Brain Anterior Caudate	brain
50	chr2:190650400-190656400	Weak transcription	Fetal Intestine Large	intestine

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