Variant report

Variant	rs17107637
Chromosome Location	chr14:70495371-70495372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70284942..70286124-chr14:70494176..70496165,29	MCF-7	breast:
2	chr14:70495096..70497706-chr14:70500490..70502321,2	MCF-7	breast:
3	chr14:70284953..70286076-chr14:70493863..70495399,6	K562	blood:
4	chr14:70233736..70235237-chr14:70494701..70496831,2	MCF-7	breast:
5	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:
6	chr14:70314565..70316766-chr14:70494055..70496568,2	MCF-7	breast:
7	chr14:70482647..70484897-chr14:70494365..70496259,2	MCF-7	breast:
8	chr14:70494747..70496910-chr14:70498282..70501125,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1005543	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1156443	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1156446	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12436175	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17107635	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17107651	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1998334	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs227402	0.87[CHD][hapmap]
rs227405	0.80[CHD][hapmap]
rs2281663	0.86[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs3742912	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55784307	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56029860	0.99[ASN][1000 genomes]
rs59662605	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60011612	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72728002	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72729803	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72729808	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010305	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs8015491	0.81[CEU][hapmap]
rs8016522	0.86[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv817638	chr14:70489680-70500973	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17107637	KIAA0247	cis	cerebellum	SCAN
rs17107637	ARG2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
4	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
5	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
7	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
8	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:70487800-70498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:70488000-70498600	Weak transcription	Gastric	stomach
12	chr14:70489000-70499200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:70490200-70499200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:70490600-70498600	Weak transcription	NHEK	skin
15	chr14:70491400-70498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:70492200-70499400	Weak transcription	Brain Germinal Matrix	brain
17	chr14:70492400-70496600	Weak transcription	Fetal Brain Female	brain
18	chr14:70493200-70495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:70493200-70496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:70493400-70495400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:70493800-70499000	Weak transcription	HepG2	liver
22	chr14:70494200-70499600	Weak transcription	Spleen	Spleen
23	chr14:70494200-70499800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:70494400-70497800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70494400-70500200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:70494400-70500400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:70494600-70496600	Weak transcription	Brain Substantia Nigra	brain
28	chr14:70494600-70498600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:70494600-70498800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:70494800-70497200	Enhancers	Liver	Liver

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