Variant report

Variant	rs1108135
Chromosome Location	chr15:83428193-83428194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83425519..83427195-chr15:83427630..83430055,2	MCF-7	breast:
2	chr15:83425158..83429162-chr15:83434771..83437129,3	K562	blood:
3	chr15:83417439..83419471-chr15:83427262..83430015,3	MCF-7	breast:
4	chr15:83428179..83430469-chr15:83435765..83438520,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1107116	0.86[ASN][1000 genomes]
rs11856878	0.87[CHB][hapmap]
rs12592976	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1533135	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17158194	0.84[MKK][hapmap]
rs17158253	0.81[EUR][1000 genomes]
rs17158257	0.81[EUR][1000 genomes]
rs17158267	0.80[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs17158366	0.84[GIH][hapmap];0.93[MEX][hapmap]
rs17841165	0.80[CEU][hapmap];0.82[LWK][hapmap];0.95[MKK][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs17841176	0.86[MEX][hapmap]
rs2137053	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2379991	0.88[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs28534460	0.99[ASN][1000 genomes]
rs28615391	0.83[AMR][1000 genomes]
rs28698473	0.81[EUR][1000 genomes]
rs55994896	0.81[EUR][1000 genomes]
rs57612574	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58229275	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66978683	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73443061	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033726	0.94[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs8036185	0.86[ASN][1000 genomes]
rs8036227	0.92[GIH][hapmap];0.93[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	esv3346074	chr15:83422947-83456222	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1108135	UBE2Q2P1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83420200-83433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:83420400-83436400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:83420600-83429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:83420800-83431400	Weak transcription	Stomach Mucosa	stomach
5	chr15:83421000-83428200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:83421000-83428400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:83421000-83428400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:83421000-83428600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:83421000-83429400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:83421200-83428200	Strong transcription	Fetal Thymus	thymus
11	chr15:83421200-83430000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr15:83421200-83431200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:83421200-83431200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:83421200-83431600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr15:83421200-83432000	Strong transcription	A549	lung
16	chr15:83421400-83428200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:83421400-83428200	Strong transcription	HUVEC	blood vessel
18	chr15:83421400-83428400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr15:83421400-83431400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:83421400-83431600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:83421600-83428200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:83421600-83431200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:83421600-83431600	Strong transcription	Adipose Nuclei	Adipose
24	chr15:83421600-83432800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr15:83422000-83428200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:83422000-83430600	Weak transcription	Small Intestine	intestine
27	chr15:83422000-83431400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:83422000-83431600	Strong transcription	Liver	Liver
29	chr15:83422200-83429800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:83422200-83431200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:83422200-83431600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:83422200-83435200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:83422400-83428400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:83422400-83436800	Strong transcription	Primary T cells from cord blood	blood
35	chr15:83422600-83428200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:83422800-83428200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:83422800-83428200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:83422800-83430000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr15:83422800-83430000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:83422800-83430400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:83423000-83428200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:83423200-83428400	Strong transcription	Placenta	Placenta
43	chr15:83423200-83429600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:83423200-83431600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:83423400-83428200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:83423400-83428200	Strong transcription	NHEK	skin
47	chr15:83423400-83428400	Strong transcription	Brain Cingulate Gyrus	brain
48	chr15:83423400-83428400	Strong transcription	HepG2	liver
49	chr15:83423600-83429600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:83424000-83428400	Strong transcription	Hela-S3	cervix

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