Variant report

Variant	rs549638248
Chromosome Location	chr2:128174312-128174313
allele	-/GTCTC
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	MYC	chr2:128174027-128174379	NB4	blood:	n/a	n/a
2	TCF7L2	chr2:128174276-128174633	PANC-1	pancreas:	n/a	n/a
3	MAX	chr2:128174030-128174357	NB4	blood:	n/a	n/a
4	HA-E2F1	chr2:128173322-128174329	MCF-7	breast:	n/a	chr2:128174076-128174085 chr2:128174070-128174087 chr2:128174077-128174084
5	RAD21	chr2:128173232-128174455	SK-N-SH	brain:	n/a	chr2:128174120-128174132 chr2:128173818-128173828 chr2:128173625-128173638 chr2:128174120-128174130
6	RUNX3	chr2:128173968-128174328	GM12878	blood:	n/a	n/a
7	CTCF	chr2:128173034-128174370	SK-N-SH	brain:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
8	MTA3	chr2:128173229-128174384	GM12878	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
ENSG00000115718	Chromatin interaction
ENSG00000163161	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:83 , 50 per page) page: 1 2

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	chr2:128173200-128174400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:128173200-128174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:128173200-128174400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:128173200-128174400	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr2:128173200-128174600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr2:128173200-128174600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr2:128173200-128174600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:128173200-128174800	Flanking Active TSS	Liver	Liver
12	chr2:128173400-128174400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:128173400-128174400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr2:128173400-128174400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr2:128173400-128174400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:128173400-128174600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr2:128173400-128174600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr2:128173400-128174600	Bivalent Enhancer	Fetal Brain Male	brain
19	chr2:128173400-128175200	Flanking Active TSS	Dnd41	blood
20	chr2:128173600-128174400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr2:128173800-128174400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr2:128173800-128174600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:128174000-128174400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:128174000-128174400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:128174000-128174400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr2:128174000-128174400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr2:128174000-128174400	Active TSS	Primary hematopoietic stem cells	blood
28	chr2:128174000-128174400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr2:128174000-128174400	Enhancers	Fetal Heart	heart
30	chr2:128174000-128174400	Bivalent Enhancer	Osteobl	bone
31	chr2:128174000-128174600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:128174000-128174600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:128174000-128174600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:128174000-128174600	Enhancers	Placenta	Placenta
35	chr2:128174000-128174600	Flanking Active TSS	Thymus	Thymus
36	chr2:128174000-128174800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:128174000-128174800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:128174000-128174800	Enhancers	HSMM	muscle
39	chr2:128174000-128175000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:128174000-128175800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:128174000-128177800	Enhancers	A549	lung
42	chr2:128174000-128180600	Weak transcription	Right Atrium	heart
43	chr2:128174200-128174400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:128174200-128174400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr2:128174200-128174400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:128174200-128174400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr2:128174200-128174400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:128174200-128174400	Enhancers	Adipose Nuclei	Adipose
49	chr2:128174200-128174400	Active TSS	Brain Anterior Caudate	brain
50	chr2:128174200-128174400	Bivalent Enhancer	Brain Cingulate Gyrus	brain

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