Variant report

Variant	rs28902200
Chromosome Location	chr2:234886513-234886514
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	REST	chr2:234885882-234886539	ECC-1	luminal epithelium:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297
2	FOSL2	chr2:234886118-234886551	A549	lung:	n/a	n/a
3	REST	chr2:234885275-234886644	A549	lung:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297 chr2:234885595-234885605
4	EP300	chr2:234885269-234886532	A549	lung:	n/a	chr2:234885274-234885288 chr2:234885639-234885653 chr2:234885939-234885953 chr2:234886150-234886166 chr2:234885519-234885533
5	SMC3	chr2:234884896-234886581	SK-N-SH	brain:	n/a	n/a
6	REST	chr2:234885883-234886560	PANC-1	pancreas:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297
7	REST	chr2:234885980-234886513	HCT-116	colon:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297
8	REST	chr2:234885927-234886641	ECC-1	luminal epithelium:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297
9	REST	chr2:234885981-234886531	PANC-1	pancreas:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297
10	REST	chr2:234886029-234886513	HL-60	blood:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297
11	REST	chr2:234886102-234886524	MCF-7	breast:	n/a	chr2:234886186-234886199 chr2:234886288-234886297 chr2:234886278-234886296 chr2:234886277-234886297

Variant related genes	Relation type
TRPM8	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28901636	1.00[YRI][hapmap]
rs28902175	1.00[YRI][hapmap]
rs28902214	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234881800-234886600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:234881800-234890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:234882200-234886600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:234882400-234892200	Enhancers	NHLF	lung
5	chr2:234883800-234886800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:234884200-234887600	Weak transcription	HSMM	muscle
7	chr2:234884200-234888000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:234884200-234888000	Weak transcription	Osteobl	bone
9	chr2:234884200-234888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:234884200-234888400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:234884200-234889400	Weak transcription	HSMMtube	muscle
12	chr2:234885200-234887600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:234885200-234888000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:234885400-234887600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:234885400-234887600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:234885400-234887800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:234885600-234886600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:234885600-234886600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:234885600-234886600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:234885800-234887000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:234885800-234890000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:234886000-234886600	Flanking Active TSS	Liver	Liver
23	chr2:234886000-234887600	Weak transcription	NHDF-Ad	bronchial
24	chr2:234886000-234888200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:234886000-234888200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:234886000-234889800	Weak transcription	NH-A	brain
27	chr2:234886200-234887200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:234886200-234887400	Enhancers	HepG2	liver
29	chr2:234886200-234890000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:234886200-234891600	Weak transcription	Fetal Brain Male	brain
31	chr2:234886200-234898000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:234886200-234898200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:234886400-234886800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:234886400-234887400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:234886400-234887400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:234886400-234887800	Weak transcription	HMEC	breast
37	chr2:234886400-234888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:234886400-234888000	Enhancers	A549	lung
39	chr2:234886400-234888200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:234886400-234888200	Weak transcription	NHEK	skin
41	chr2:234886400-234888400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:234886400-234890800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:234886400-234892400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:234886400-234901200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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