Variant report

Variant	rs561527302
Chromosome Location	chr2:190650774-190650775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:190650362-190650776	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:190648136-190651362	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:190650732-190650845	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:190650129-190650820	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
2	chr2:190615675..190618614-chr2:190648414..190651811,3	K562	blood:
3	chr2:190649682..190653858-chr2:190657943..190661151,4	K562	blood:
4	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
5	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
6	chr2:190523468..190528374-chr2:190647262..190651485,5	K562	blood:
7	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
8	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
9	chr2:190626375..190630628-chr2:190647839..190651386,6	MCF-7	breast:

No data

Variant related genes	Relation type
ORMDL1	TF binding region
ENSG00000253559	Chromatin interaction
ENSG00000223249	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000138381	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:123 , 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	chr2:190647800-190650800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:190649000-190651000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:190649600-190650800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:190649600-190656200	Weak transcription	Spleen	Spleen
7	chr2:190649600-190658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:190649800-190651000	Flanking Active TSS	Dnd41	blood
9	chr2:190649800-190657600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:190649800-190658600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:190649800-190662200	Weak transcription	Aorta	Aorta
12	chr2:190649800-190662200	Weak transcription	Left Ventricle	heart
13	chr2:190649800-190662800	Weak transcription	Lung	lung
14	chr2:190649800-190667200	Weak transcription	Pancreas	Pancrea
15	chr2:190649800-190675200	Weak transcription	Esophagus	oesophagus
16	chr2:190649800-190713400	Weak transcription	Gastric	stomach
17	chr2:190650000-190650800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:190650000-190650800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:190650000-190650800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:190650000-190650800	Flanking Active TSS	HepG2	liver
21	chr2:190650000-190651000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:190650000-190651000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:190650000-190656000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:190650000-190657000	Weak transcription	Placenta	Placenta
25	chr2:190650000-190688200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:190650200-190650800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:190650200-190650800	Enhancers	Fetal Thymus	thymus
28	chr2:190650200-190651000	Enhancers	Primary B cells from cord blood	blood
29	chr2:190650200-190651000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:190650200-190651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:190650200-190651200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:190650200-190656400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:190650200-190656800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:190650200-190657600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:190650200-190658600	Weak transcription	Ovary	ovary
36	chr2:190650200-190662800	Weak transcription	Psoas Muscle	Psoas
37	chr2:190650200-190668200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:190650200-190669200	Weak transcription	Right Ventricle	heart
39	chr2:190650200-190673000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:190650200-190673200	Weak transcription	Small Intestine	intestine
41	chr2:190650400-190650800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:190650400-190651000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:190650400-190651000	Genic enhancers	Fetal Muscle Leg	muscle
44	chr2:190650400-190651200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:190650400-190651200	Enhancers	Brain Germinal Matrix	brain
46	chr2:190650400-190651400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:190650400-190651400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:190650400-190651800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:190650400-190652000	Weak transcription	NH-A	brain
50	chr2:190650400-190652200	Weak transcription	Primary hematopoietic stem cells	blood

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