Variant report

Variant	rs2540981
Chromosome Location	chr2:37460041-37460042
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:37456226-37460228	SK-N-SH	brain:	n/a	n/a
2	SIN3A	chr2:37457701-37460089	H1-hESC	embryonic stem cell:	n/a	chr2:37458253-37458267
3	MXI1	chr2:37457475-37460225	IMR90	lung:	n/a	n/a
4	POLR2A	chr2:37457736-37460395	HepG2	liver:	n/a	n/a
5	REST	chr2:37457959-37460076	H1-neurons	neurons:	n/a	n/a
6	MAX	chr2:37459595-37460083	K562	blood:	n/a	chr2:37459879-37459890 chr2:37459880-37459890

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
2	chr2:37457149..37460328-chr2:37469330..37472927,4	MCF-7	breast:
3	chr2:37458143..37460778-chr2:37473170..37474857,2	MCF-7	breast:
4	chr2:37438602..37441837-chr2:37456700..37460160,3	K562	blood:
5	chr2:37458068..37462101-chr2:37468406..37471417,5	K562	blood:
6	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
7	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
8	chr2:37413518..37417531-chr2:37457528..37460316,5	MCF-7	breast:
9	chr2:37456368..37460350-chr2:37466636..37472512,8	MCF-7	breast:

No data

Variant related genes	Relation type
CEBPZ	TF binding region
ENSG00000003509	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000218739	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000233159	Chromatin interaction

rs_ID	r²[population]
rs2430491	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs2430492	0.85[AFR][1000 genomes]
rs2465492	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540978	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2714471	0.92[AFR][1000 genomes]
rs2714472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37456600-37460400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:37456800-37460600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:37457000-37460200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37457000-37461000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:37457200-37460400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:37457200-37461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:37457600-37460400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:37457800-37460200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:37459200-37460200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr2:37459200-37460200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:37459200-37460400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr2:37459400-37460200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:37459400-37460200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:37459400-37460200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr2:37459400-37460200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:37459400-37460200	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr2:37459400-37460200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr2:37459400-37460200	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr2:37459400-37460200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr2:37459400-37460200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr2:37459400-37460200	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr2:37459400-37460200	Flanking Active TSS	Fetal Brain Female	brain
23	chr2:37459400-37460200	Flanking Active TSS	GM12878-XiMat	blood
24	chr2:37459400-37460400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:37459400-37460400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr2:37459400-37460400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:37459400-37460400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:37459400-37460400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:37459400-37460400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:37459400-37460400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:37459400-37460400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:37459400-37460400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:37459400-37460400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:37459400-37460400	Flanking Active TSS	Dnd41	blood
35	chr2:37459400-37460400	Flanking Active TSS	Hela-S3	cervix
36	chr2:37459400-37460400	Flanking Active TSS	NHEK	skin
37	chr2:37459600-37460200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:37459600-37460200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:37459600-37460200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:37459600-37460200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr2:37459600-37460200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:37459600-37460200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:37459600-37460200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:37459600-37460200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:37459600-37460200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr2:37459600-37460200	Flanking Active TSS	A549	lung
47	chr2:37459600-37460200	Flanking Active TSS	HMEC	breast
48	chr2:37459600-37460200	Flanking Active TSS	HSMMtube	muscle
49	chr2:37459600-37460200	Flanking Active TSS	K562	blood
50	chr2:37459600-37460200	Flanking Active TSS	Osteobl	bone

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