Variant report

Variant	rs8031045
Chromosome Location	chr15:52144304-52144305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52141984..52144818-chr15:52148015..52151363,3	MCF-7	breast:
2	chr15:52139382..52141080-chr15:52142666..52144648,2	MCF-7	breast:
3	chr15:52144062..52148072-chr15:52151395..52154827,4	K562	blood:
4	chr15:52127762..52132113-chr15:52143780..52145866,4	K562	blood:
5	chr15:52122119..52124469-chr15:52144206..52147275,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259632	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10444823	0.81[CHB][hapmap]
rs11070865	0.85[CHB][hapmap];0.86[CHD][hapmap]
rs1133883	0.80[CHB][hapmap]
rs1135871	0.83[ASN][1000 genomes]
rs17705732	0.82[CHB][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap]
rs2006772	0.93[ASN][1000 genomes]
rs2006773	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2014638	0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs2052705	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2052706	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2252831	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2433222	0.93[ASN][1000 genomes]
rs2436657	0.90[ASN][1000 genomes]
rs2436662	0.99[ASN][1000 genomes]
rs2554315	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs2554322	0.92[ASN][1000 genomes]
rs2554327	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2554328	0.98[ASN][1000 genomes]
rs2554332	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2554348	0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2554353	0.98[ASN][1000 genomes]
rs2570224	0.85[CHB][hapmap];0.97[CHD][hapmap];0.86[ASN][1000 genomes]
rs2570235	0.93[ASN][1000 genomes]
rs2570236	0.90[ASN][1000 genomes]
rs2570239	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2570240	0.98[ASN][1000 genomes]
rs2570241	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2570248	0.99[ASN][1000 genomes]
rs2570251	0.91[ASN][1000 genomes]
rs2570252	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2570253	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2593168	0.90[ASN][1000 genomes]
rs2593170	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2593177	0.89[ASN][1000 genomes]
rs2593182	0.92[ASN][1000 genomes]
rs2593188	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2593199	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2623243	0.87[ASN][1000 genomes]
rs2623244	0.88[ASN][1000 genomes]
rs2623255	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2623259	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs2623266	0.93[ASN][1000 genomes]
rs2623271	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2623282	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2623284	0.91[ASN][1000 genomes]
rs2623285	0.92[ASN][1000 genomes]
rs690638	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs8035173	0.80[CHB][hapmap];0.86[CHD][hapmap]
rs8040991	0.99[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	nsv569409	chr15:52028914-52268144	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830255	chr15:52133914-52274863	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8031045	EID1	cis	cerebellum	SCAN
rs8031045	CPT2	trans	cerebellum	SCAN
rs8031045	GNB5	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52130000-52155000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:52130800-52155200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:52133000-52146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:52135800-52146200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:52135800-52155000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:52136000-52145800	Weak transcription	Liver	Liver
7	chr15:52136000-52155200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:52136200-52155000	Weak transcription	Aorta	Aorta
9	chr15:52136600-52153400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:52137400-52147400	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:52137600-52145600	Weak transcription	HepG2	liver
12	chr15:52137800-52155000	Weak transcription	Fetal Intestine Large	intestine
13	chr15:52138000-52153400	Weak transcription	Esophagus	oesophagus
14	chr15:52138000-52155000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:52138600-52155000	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:52139000-52146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:52139000-52153400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:52139200-52147600	Weak transcription	Brain Anterior Caudate	brain
19	chr15:52139200-52156200	Weak transcription	Fetal Intestine Small	intestine
20	chr15:52139400-52144800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:52139400-52145000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:52139400-52145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:52139400-52147200	Weak transcription	GM12878-XiMat	blood
24	chr15:52139400-52147400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr15:52139400-52148200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:52139400-52151600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:52139400-52152000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:52139400-52156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:52139600-52145400	Enhancers	Hela-S3	cervix
30	chr15:52139600-52151600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:52139600-52151600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:52139600-52152000	Weak transcription	Primary B cells from cord blood	blood
33	chr15:52139600-52154800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:52139800-52153400	Weak transcription	Fetal Thymus	thymus
35	chr15:52139800-52153600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:52140000-52145000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr15:52140000-52146200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:52140000-52151600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:52140000-52155000	Weak transcription	NH-A	brain
40	chr15:52140200-52148800	Weak transcription	Primary T cells from cord blood	blood
41	chr15:52140200-52155400	Weak transcription	HSMMtube	muscle
42	chr15:52140400-52155000	Weak transcription	HSMM	muscle
43	chr15:52140600-52155400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:52141200-52146200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:52141200-52148000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:52141400-52147400	Weak transcription	Ovary	ovary
47	chr15:52141400-52149200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:52141400-52155400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:52141600-52145600	Weak transcription	HMEC	breast
50	chr15:52141600-52145800	Enhancers	Small Intestine	intestine

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