Variant report

Variant	rs2251205
Chromosome Location	chr15:73551250-73551251
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	CUX1	chr15:73551107-73551347	GM12878	blood:	n/a	n/a
2	BHLHE40	chr15:73551230-73551429	GM12878	blood:	n/a	n/a
3	NFYB	chr15:73551013-73551253	GM12878	blood:	n/a	n/a
4	WRNIP1	chr15:73551139-73551259	GM12878	blood:	n/a	n/a
5	EBF1	chr15:73550674-73551354	GM12878	blood:	n/a	chr15:73550856-73550867
6	EP300	chr15:73551030-73551428	GM12878	blood:	n/a	n/a
7	BATF	chr15:73551092-73551440	GM12878	blood:	n/a	chr15:73551268-73551278 chr15:73551267-73551278
8	BATF	chr15:73551158-73551413	GM12878	blood:	n/a	chr15:73551268-73551278 chr15:73551267-73551278

Variant related genes	Relation type
ENSG00000259528	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10048053	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1023924	0.86[CHD][hapmap]
rs10438294	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10467949	0.93[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap];0.82[ASN][1000 genomes]
rs11072406	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11072409	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1131854	0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11633469	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11636241	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11639213	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12050774	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs12050848	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12708506	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899246	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs12902768	0.88[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12907139	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12916928	0.83[EUR][1000 genomes]
rs1479337	0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1479338	0.82[JPT][hapmap]
rs1479339	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1479340	0.89[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1564345	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs17762516	0.88[ASN][1000 genomes]
rs17762600	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs17829830	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs17829836	0.90[ASN][1000 genomes]
rs17829957	0.82[JPT][hapmap]
rs1871385	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2010793	0.82[ASN][1000 genomes]
rs2046017	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2127277	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2194924	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2415147	0.88[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2415148	0.82[JPT][hapmap]
rs2660821	0.81[TSI][hapmap]
rs2899784	0.88[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs34013312	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35450875	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3736510	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3743489	0.87[CEU][hapmap];0.88[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3784793	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784796	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4132535	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap]
rs4132536	0.83[CHD][hapmap]
rs4381562	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4776630	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4777582	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs4777583	0.82[EUR][1000 genomes]
rs4777589	0.94[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs4777590	0.86[CHD][hapmap]
rs4777591	0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs56157337	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58060856	0.87[ASN][1000 genomes]
rs62017779	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495047	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs7164894	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs7169083	0.89[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs7172021	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7172396	0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7175329	0.94[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs747872	0.88[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs747873	0.84[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8024575	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8026579	0.94[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs8027588	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8029106	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8035063	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8035925	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8040516	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8042700	0.88[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs922516	0.94[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap]
rs9672588	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9806496	0.91[ASN][1000 genomes]
rs9920186	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap]
rs9972523	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][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	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active 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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73520400-73562400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:73520600-73579600	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:73523000-73572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:73527000-73579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:73527400-73551600	Weak transcription	Small Intestine	intestine
6	chr15:73527600-73562400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:73529000-73552600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:73535200-73588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:73536200-73602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:73536400-73559200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr15:73536400-73566600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:73536800-73562400	Weak transcription	A549	lung
13	chr15:73537600-73572200	Weak transcription	Fetal Heart	heart
14	chr15:73538000-73593400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:73538200-73562600	Strong transcription	Fetal Intestine Large	intestine
16	chr15:73540000-73552000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:73540000-73565400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:73540000-73584800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:73540800-73562400	Weak transcription	HepG2	liver
20	chr15:73543000-73567400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr15:73543400-73552200	Strong transcription	Fetal Intestine Small	intestine
22	chr15:73543400-73562800	Weak transcription	Stomach Mucosa	stomach
23	chr15:73543600-73553600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:73543800-73555400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:73544000-73557800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:73544200-73555400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:73544400-73583000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:73544600-73555400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:73544800-73555400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:73545600-73555600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:73546000-73554000	Strong transcription	Brain Hippocampus Middle	brain
32	chr15:73546000-73555000	Strong transcription	Liver	Liver
33	chr15:73546200-73556600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr15:73546400-73552200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:73546400-73552200	Strong transcription	Fetal Stomach	stomach
36	chr15:73546800-73553600	Strong transcription	Fetal Lung	lung
37	chr15:73546800-73555400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:73546800-73555400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr15:73546800-73563000	Weak transcription	Right Ventricle	heart
40	chr15:73546800-73583000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:73546800-73588600	Weak transcription	Spleen	Spleen
42	chr15:73547000-73553000	Strong transcription	Ovary	ovary
43	chr15:73547000-73553600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:73547000-73555400	Strong transcription	Fetal Kidney	kidney
45	chr15:73547000-73559600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:73547200-73552800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:73547600-73552200	Strong transcription	Rectal Smooth Muscle	rectum
48	chr15:73547600-73554400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr15:73547600-73576600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr15:73547800-73584600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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