Variant report

Variant	rs2272060
Chromosome Location	chr2:169746079-169746080
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	E2F4	chr2:169745245-169748180	MCF10A-Er-Src	breast:	n/a	chr2:169746952-169746964 chr2:169746990-169746999 chr2:169746951-169746962
2	TEAD4	chr2:169746049-169747643	K562	blood:	n/a	n/a
3	POLR2A	chr2:169745915-169747127	K562	blood:	n/a	n/a

Variant related genes	Relation type
SPC25	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13017628	1.00[JPT][hapmap]
rs1522018	0.98[ASN][1000 genomes]
rs2272061	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2272062	1.00[ASN][1000 genomes]
rs3814384	1.00[ASN][1000 genomes]
rs6749007	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3417763	chr2:169744606-169746654	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169715400-169746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:169717000-169746400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:169731600-169746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:169731800-169746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:169734000-169746200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:169739400-169746400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:169742800-169746200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:169744200-169746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:169744400-169746200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:169744800-169746200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:169744800-169746400	Weak transcription	Pancreas	Pancrea
12	chr2:169744800-169746400	Weak transcription	Spleen	Spleen
13	chr2:169745000-169746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:169745000-169746200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:169745600-169746400	Flanking Active TSS	Dnd41	blood
16	chr2:169745600-169746400	Transcr. at gene 5' and 3'	K562	blood
17	chr2:169745800-169746200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:169745800-169746200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:169745800-169746200	Active TSS	Fetal Brain Female	brain
20	chr2:169745800-169746200	Active TSS	Fetal Thymus	thymus
21	chr2:169745800-169746200	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:169745800-169746200	Flanking Active TSS	HepG2	liver
23	chr2:169745800-169746200	Active TSS	NH-A	brain
24	chr2:169745800-169746200	Enhancers	Osteobl	bone
25	chr2:169745800-169746400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:169745800-169746400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:169745800-169746400	Flanking Active TSS	Thymus	Thymus
28	chr2:169745800-169746400	Flanking Active TSS	Hela-S3	cervix
29	chr2:169745800-169746400	Flanking Active TSS	HMEC	breast
30	chr2:169745800-169746600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:169745800-169746600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:169745800-169746600	Flanking Active TSS	Fetal Heart	heart
33	chr2:169745800-169746600	Flanking Active TSS	NHEK	skin
34	chr2:169745800-169746800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:169745800-169746800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr2:169745800-169746800	Flanking Active TSS	HUVEC	blood vessel
37	chr2:169745800-169747200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:169745800-169747200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr2:169745800-169747200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:169745800-169747200	Active TSS	HSMM	muscle
41	chr2:169745800-169747400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:169745800-169747400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:169745800-169747400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:169745800-169747400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:169745800-169747400	Active TSS	Fetal Kidney	kidney
46	chr2:169745800-169747600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:169745800-169747600	Active TSS	A549	lung
48	chr2:169746000-169746200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:169746000-169746200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:169746000-169746200	Active TSS	Brain Germinal Matrix	brain

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