Variant report

Variant	rs72727718
Chromosome Location	chr1:185537417-185537418
allele	C/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	NFIC	chr1:185537285-185537688	GM12878	blood:	n/a	n/a
2	RUNX3	chr1:185537225-185538182	GM12878	blood:	n/a	n/a
3	MEF2A	chr1:185537335-185537657	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228309	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11578907	1.00[AFR][1000 genomes]
rs11586605	1.00[AFR][1000 genomes]
rs72727728	1.00[AFR][1000 genomes]
rs72727749	1.00[AFR][1000 genomes]

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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185528600-185539800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:185529400-185543000	Weak transcription	Pancreas	Pancrea
3	chr1:185530800-185544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185531800-185540400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:185532800-185538800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185533000-185538800	Enhancers	HMEC	breast
7	chr1:185533000-185540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:185533000-185540800	Enhancers	NHEK	skin
9	chr1:185533400-185539000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:185534200-185537800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:185534200-185540000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:185534400-185538800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:185534600-185538600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:185534600-185540200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:185534800-185539200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:185534800-185543000	Weak transcription	A549	lung
17	chr1:185535000-185543400	Weak transcription	HSMMtube	muscle
18	chr1:185535200-185538200	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:185535800-185539000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:185536000-185538600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:185536200-185539000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:185536200-185539400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:185536200-185542000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:185536600-185538200	Enhancers	Primary B cells from cord blood	blood
25	chr1:185536800-185538400	Weak transcription	Fetal Kidney	kidney
26	chr1:185536800-185538800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:185536800-185539000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:185536800-185539400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:185536800-185539400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:185536800-185539600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:185536800-185540600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:185537000-185538000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:185537000-185540400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:185537000-185540400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:185537000-185540600	Enhancers	Primary T cells from cord blood	blood
36	chr1:185537000-185540600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:185537200-185537600	Weak transcription	Osteobl	bone
38	chr1:185537200-185538200	Weak transcription	Fetal Heart	heart
39	chr1:185537200-185539000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:185537200-185539200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:185537200-185540000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:185537200-185540000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:185537200-185543000	Weak transcription	Small Intestine	intestine
44	chr1:185537400-185537600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr1:185537400-185537800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:185537400-185537800	Weak transcription	Thymus	Thymus
47	chr1:185537400-185538000	Weak transcription	Fetal Intestine Large	intestine
48	chr1:185537400-185538400	Weak transcription	Fetal Intestine Small	intestine

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