Variant report

Variant	rs2278139
Chromosome Location	chr2:47748292-47748293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47747881..47749492-chr2:47759888..47761695,2	MCF-7	breast:
2	chr2:47748070..47748585-chr2:47797916..47798629,2	MCF-7	breast:
3	chr2:47748123..47749357-chr2:47994786..47995698,3	MCF-7	breast:
4	chr2:47742968..47745561-chr2:47746454..47749350,4	MCF-7	breast:
5	chr2:47740431..47742098-chr2:47747533..47749204,2	MCF-7	breast:
6	chr2:47746690..47748585-chr2:47750437..47753356,2	MCF-7	breast:
7	chr2:47743998..47746424-chr2:47747321..47749054,2	K562	blood:

Variant related genes	Relation type
ENSG00000184261	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10197011	0.86[ASN][1000 genomes]
rs10495945	0.85[ASN][1000 genomes]
rs2303424	0.80[ASN][1000 genomes]
rs6722911	0.84[EUR][1000 genomes]
rs876936	0.82[ASN][1000 genomes]
rs876937	0.82[ASN][1000 genomes]
rs879722	0.80[ASN][1000 genomes]
rs9784092	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47742800-47748400	Enhancers	Fetal Brain Male	brain
2	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:47744800-47752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:47745200-47749400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:47747200-47749000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
6	chr2:47747400-47748400	Bivalent Enhancer	Fetal Lung	lung
7	chr2:47747400-47748800	Enhancers	Fetal Heart	heart
8	chr2:47747400-47749000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:47747600-47748400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:47747600-47748800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:47747600-47749000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:47747600-47749000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:47747600-47749000	Enhancers	Placenta	Placenta
14	chr2:47747600-47749000	Active TSS	A549	lung
15	chr2:47747600-47749000	Active TSS	HSMM	muscle
16	chr2:47747600-47749200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:47747800-47748400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:47747800-47748400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:47747800-47748400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:47747800-47748400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:47747800-47748400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:47747800-47748400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:47747800-47748400	Flanking Active TSS	Psoas Muscle	Psoas
24	chr2:47747800-47748400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr2:47747800-47748400	Active TSS	Right Atrium	heart
26	chr2:47747800-47748400	Active TSS	GM12878-XiMat	blood
27	chr2:47747800-47748600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:47747800-47748600	Active TSS	Brain Germinal Matrix	brain
29	chr2:47747800-47748800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:47747800-47748800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:47747800-47748800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr2:47747800-47748800	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr2:47747800-47748800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr2:47747800-47748800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:47747800-47748800	Flanking Active TSS	Liver	Liver
36	chr2:47747800-47748800	Active TSS	Brain Substantia Nigra	brain
37	chr2:47747800-47748800	Flanking Active TSS	Right Ventricle	heart
38	chr2:47747800-47748800	Flanking Active TSS	HMEC	breast
39	chr2:47747800-47748800	Bivalent/Poised TSS	HSMMtube	muscle
40	chr2:47747800-47748800	Bivalent/Poised TSS	NHEK	skin
41	chr2:47747800-47749000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:47747800-47749000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr2:47747800-47749000	Active TSS	Primary T cells from cord blood	blood
44	chr2:47747800-47749000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:47747800-47749000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:47747800-47749000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:47747800-47749000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr2:47747800-47749000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:47747800-47749000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:47747800-47749000	Active TSS	Brain Angular Gyrus	brain

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