Variant report

Variant	rs28902201
Chromosome Location	chr2:234890432-234890433
allele	A/G
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	ARID3A	chr2:234890386-234891321	HepG2	liver:	n/a	n/a
2	EP300	chr2:234890419-234890931	HepG2	liver:	n/a	n/a
3	TEAD4	chr2:234890147-234891415	HepG2	liver:	n/a	n/a
4	REST	chr2:234890344-234891136	A549	lung:	n/a	n/a
5	FOXA1	chr2:234890368-234890963	HepG2	liver:	n/a	n/a
6	SP1	chr2:234890337-234890952	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:234890388-234891522	A549	lung:	n/a	chr2:234890656-234890667
8	HNF4A	chr2:234890397-234890747	HepG2	liver:	n/a	n/a
9	TCF12	chr2:234890204-234891506	A549	lung:	n/a	n/a
10	MAFK	chr2:234890334-234890909	HepG2	liver:	n/a	chr2:234890580-234890594 chr2:234890581-234890592 chr2:234890581-234890592
11	EP300	chr2:234890400-234891472	A549	lung:	n/a	n/a
12	MAFK	chr2:234890294-234890985	HepG2	liver:	n/a	chr2:234890580-234890594 chr2:234890581-234890592 chr2:234890581-234890592
13	NFIC	chr2:234890407-234891005	HepG2	liver:	n/a	n/a
14	FOSL2	chr2:234890254-234891476	A549	lung:	n/a	n/a
15	EP300	chr2:234890361-234891275	HepG2	liver:	n/a	chr2:234890393-234890407
16	TCF12	chr2:234890105-234891977	SK-N-SH	brain:	n/a	n/a
17	TCF7L2	chr2:234890374-234891236	HepG2	liver:	n/a	chr2:234890680-234890694 chr2:234890679-234890695 chr2:234890683-234890692 chr2:234890679-234890695
18	FOXA1	chr2:234890359-234891009	HepG2	liver:	n/a	n/a
19	EP300	chr2:234890290-234891518	A549	lung:	n/a	chr2:234890393-234890407
20	SP1	chr2:234890372-234891405	A549	lung:	n/a	n/a
21	GATA3	chr2:234890298-234891605	A549	lung:	n/a	n/a
22	MAFF	chr2:234890385-234890884	HepG2	liver:	n/a	n/a
23	JUND	chr2:234890431-234891341	HepG2	liver:	n/a	n/a
24	SP1	chr2:234890371-234891434	A549	lung:	n/a	n/a
25	MBD4	chr2:234890425-234891148	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TRPM8	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11562957	1.00[AMR][1000 genomes]
rs11563254	1.00[AMR][1000 genomes]
rs28901870	1.00[AMR][1000 genomes]
rs28901872	1.00[AMR][1000 genomes]
rs28902185	1.00[AMR][1000 genomes]
rs28902233	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234881800-234890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:234882400-234892200	Enhancers	NHLF	lung
3	chr2:234886200-234891600	Weak transcription	Fetal Brain Male	brain
4	chr2:234886200-234898000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:234886200-234898200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:234886400-234890800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:234886400-234892400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:234886400-234901200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:234887000-234890800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:234887800-234890800	Enhancers	HMEC	breast
11	chr2:234887800-234891800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:234887800-234892600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:234888200-234892800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:234888600-234892800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:234888800-234891400	Enhancers	NHDF-Ad	bronchial
16	chr2:234889200-234892600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:234889400-234890800	Enhancers	HSMMtube	muscle
18	chr2:234889600-234890800	Enhancers	Osteobl	bone
19	chr2:234889600-234892200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:234889600-234892200	Enhancers	HSMM	muscle
21	chr2:234889600-234892200	Enhancers	NHEK	skin
22	chr2:234889800-234891000	Enhancers	Fetal Intestine Large	intestine
23	chr2:234889800-234891200	Enhancers	NH-A	brain
24	chr2:234889800-234891600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:234890000-234890600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:234890000-234890800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:234890000-234891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:234890000-234892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:234890000-234892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:234890000-234892600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:234890200-234890600	Flanking Active TSS	Liver	Liver
32	chr2:234890200-234890600	Flanking Active TSS	A549	lung
33	chr2:234890400-234890600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:234890400-234890600	Flanking Active TSS	HepG2	liver

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