Variant report

Variant	rs8010305
Chromosome Location	chr14:70487739-70487740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1005543	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10134291	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs10134965	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs11158827	0.84[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.84[MEX][hapmap]
rs12436175	0.91[ASN][1000 genomes]
rs12885068	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs12885683	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs1459704	0.82[CHB][hapmap]
rs1471243	0.84[MEX][hapmap]
rs17107610	0.82[CHB][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap]
rs17107635	0.82[CHB][hapmap];0.91[CHD][hapmap]
rs17107637	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs17107651	0.86[CHB][hapmap]
rs227405	0.91[CEU][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2281663	1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs3742912	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs3825739	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs59662605	0.91[ASN][1000 genomes]
rs7151788	0.84[MEX][hapmap]
rs7157226	0.82[CHB][hapmap]
rs7160726	0.82[CHB][hapmap]
rs72728002	0.91[ASN][1000 genomes]
rs72729803	0.91[ASN][1000 genomes]
rs72729808	0.89[ASN][1000 genomes]
rs8008125	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8012912	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs8016522	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs8019103	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8010305	FAM71D	cis	cerebellum	SCAN
rs8010305	MPP5	cis	cerebellum	SCAN
rs8010305	SMOC1	cis	Artery Tibial	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
3	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70481600-70488200	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70482200-70488200	Weak transcription	HepG2	liver
6	chr14:70483600-70488800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:70484800-70488400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:70485600-70491600	Weak transcription	Fetal Brain Female	brain
10	chr14:70485800-70489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:70485800-70493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
13	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
14	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:70486000-70487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:70486000-70487800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:70486000-70488600	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:70486000-70488800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:70486000-70488800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
21	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
22	chr14:70486200-70488000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:70486200-70488800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:70486200-70488800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:70486200-70489000	Weak transcription	NHEK	skin
26	chr14:70486400-70489000	Weak transcription	HMEC	breast
27	chr14:70486400-70490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:70486400-70491600	Weak transcription	Spleen	Spleen
29	chr14:70486400-70491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:70487000-70488200	Enhancers	Brain Substantia Nigra	brain
33	chr14:70487000-70488400	Enhancers	Placenta	Placenta
34	chr14:70487000-70494400	Strong transcription	Liver	Liver
35	chr14:70487200-70487800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:70487200-70488000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr14:70487200-70488000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:70487200-70488000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:70487200-70488000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:70487200-70488000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:70487200-70488000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:70487200-70488000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:70487200-70488000	Enhancers	Fetal Muscle Leg	muscle
44	chr14:70487200-70488200	Enhancers	Brain Anterior Caudate	brain
45	chr14:70487200-70488200	Enhancers	Brain Hippocampus Middle	brain
46	chr14:70487200-70488400	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:70487200-70488400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr14:70487200-70488600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:70487400-70487800	Weak transcription	Gastric	stomach
50	chr14:70487400-70488000	Enhancers	Fetal Muscle Trunk	muscle

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