Variant report

Variant	rs554185640
Chromosome Location	chr2:128174734-128174735
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	POLR2A	chr2:128174564-128175723	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:128050076..128053017-chr2:128173952..128176764,3	MCF-7	breast:
2	chr2:128167645..128171047-chr2:128172725..128175521,4	MCF-7	breast:
3	chr2:128171833..128175442-chr2:128179888..128182308,3	MCF-7	breast:

Variant related genes	Relation type
PROC	TF binding region
ENSG00000163161	Chromatin interaction
ENSG00000115718	Chromatin interaction
ENSG00000264075	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	nsv583036	chr2:128173819-128183914	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128172400-128174800	Enhancers	Spleen	Spleen
2	chr2:128172800-128176800	Weak transcription	NHDF-Ad	bronchial
3	chr2:128173000-128174800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr2:128173200-128174800	Flanking Active TSS	Liver	Liver
5	chr2:128173400-128175200	Flanking Active TSS	Dnd41	blood
6	chr2:128174000-128174800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:128174000-128174800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:128174000-128174800	Enhancers	HSMM	muscle
9	chr2:128174000-128175000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:128174000-128175800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:128174000-128177800	Enhancers	A549	lung
12	chr2:128174000-128180600	Weak transcription	Right Atrium	heart
13	chr2:128174200-128174800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:128174200-128174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:128174200-128174800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:128174200-128174800	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:128174200-128174800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:128174200-128174800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:128174200-128174800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:128174200-128174800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:128174200-128174800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr2:128174200-128174800	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr2:128174200-128174800	Enhancers	HMEC	breast
24	chr2:128174200-128175000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:128174200-128175600	Enhancers	Fetal Thymus	thymus
26	chr2:128174200-128175800	Weak transcription	Gastric	stomach
27	chr2:128174400-128174800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr2:128174400-128174800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr2:128174400-128174800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr2:128174400-128174800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:128174400-128174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:128174400-128174800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:128174400-128174800	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr2:128174400-128175000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:128174400-128175000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:128174400-128175200	Enhancers	HepG2	liver
37	chr2:128174400-128175800	Weak transcription	Pancreas	Pancrea
38	chr2:128174400-128176800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:128174600-128174800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr2:128174600-128174800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:128174600-128174800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:128174600-128175000	Enhancers	Primary B cells from cord blood	blood
43	chr2:128174600-128175000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:128174600-128175200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:128174600-128175200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:128174600-128175200	Enhancers	Thymus	Thymus

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