Variant report

Variant	rs12442211
Chromosome Location	chr15:74245675-74245676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74221858..74224522-chr15:74243431..74247187,3	MCF-7	breast:
2	chr15:74245232..74249723-chr15:74250188..74253151,4	MCF-7	breast:
3	chr15:74227809..74230483-chr15:74244545..74246597,2	MCF-7	breast:
4	chr15:74234935..74236699-chr15:74244847..74247930,3	K562	blood:
5	chr15:74238012..74239922-chr15:74245063..74247153,2	MCF-7	breast:
6	chr15:74243548..74247023-chr15:74247125..74250024,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129038	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10162627	0.83[MEX][hapmap]
rs1052242	0.80[GIH][hapmap]
rs10851866	0.80[ASN][1000 genomes]
rs10851868	0.82[CHB][hapmap];0.80[GIH][hapmap]
rs11072458	0.82[JPT][hapmap]
rs11072462	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11072463	0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap]
rs11072464	0.83[MEX][hapmap]
rs11636016	0.83[MEX][hapmap]
rs11636065	0.82[CHB][hapmap];0.80[GIH][hapmap]
rs12442139	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899085	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12902857	0.82[CHB][hapmap];0.80[GIH][hapmap]
rs2277599	0.82[CHB][hapmap];0.80[GIH][hapmap]
rs2304716	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs2415206	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3784562	0.86[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]
rs4287518	0.84[JPT][hapmap]
rs4547288	0.84[ASN][1000 genomes]
rs4886820	0.81[ASN][1000 genomes]
rs7175324	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs734854	0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap]
rs752004	0.82[CHB][hapmap]
rs8027327	0.85[CHB][hapmap]
rs8027447	0.88[CHB][hapmap]
rs9479	0.81[CHB][hapmap]

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	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12442211	UBL7	cis	parietal	SCAN
rs12442211	STOML1	cis	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74234800-74249400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:74237200-74247800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:74240600-74245800	Genic enhancers	HSMM	muscle
4	chr15:74241200-74246400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:74242000-74246600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:74242200-74246000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:74242600-74246200	Genic enhancers	NHLF	lung
8	chr15:74242600-74248400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:74242800-74245800	Genic enhancers	Muscle Satellite Cultured Cells	--
10	chr15:74242800-74245800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:74242800-74248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:74242800-74251200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:74243000-74245800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:74243000-74246200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:74243000-74246600	Genic enhancers	Fetal Stomach	stomach
16	chr15:74243000-74249000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:74243200-74245800	Enhancers	Fetal Heart	heart
18	chr15:74243200-74245800	Enhancers	Right Atrium	heart
19	chr15:74243200-74246200	Enhancers	Placenta	Placenta
20	chr15:74243400-74246000	Enhancers	Ovary	ovary
21	chr15:74243400-74246600	Enhancers	Fetal Brain Male	brain
22	chr15:74243400-74247000	Enhancers	Fetal Thymus	thymus
23	chr15:74243600-74246000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:74244000-74249800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr15:74244000-74250800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:74244000-74251000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr15:74244200-74247000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:74244200-74249000	Weak transcription	Esophagus	oesophagus
29	chr15:74244400-74245800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:74244400-74245800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:74244400-74246000	Genic enhancers	Stomach Smooth Muscle	stomach
32	chr15:74244400-74246400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:74244400-74246400	Genic enhancers	HSMMtube	muscle
34	chr15:74244400-74247800	Weak transcription	HMEC	breast
35	chr15:74244400-74248200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:74244400-74248200	Weak transcription	HUVEC	blood vessel
37	chr15:74244400-74248800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr15:74244400-74250200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:74244600-74248400	Weak transcription	Thymus	Thymus
40	chr15:74244800-74245800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:74244800-74245800	Strong transcription	NHDF-Ad	bronchial
42	chr15:74244800-74246000	Strong transcription	Aorta	Aorta
43	chr15:74244800-74246000	Strong transcription	Osteobl	bone
44	chr15:74244800-74246200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:74245000-74245800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:74245000-74245800	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:74245000-74245800	Weak transcription	Left Ventricle	heart
48	chr15:74245000-74245800	Genic enhancers	Right Ventricle	heart
49	chr15:74245000-74246000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:74245000-74246000	Weak transcription	Stomach Mucosa	stomach

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