Variant report

Variant	rs4735508
Chromosome Location	chr8:98917811-98917812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98915826..98918784-chr8:98939816..98941350,2	MCF-7	breast:
2	chr8:98917300..98918803-chr8:99024235..99026797,2	MCF-7	breast:
3	chr8:98915906..98918719-chr8:98923046..98924586,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16896467	0.83[TSI][hapmap]
rs16896468	0.83[TSI][hapmap]
rs16896476	0.83[TSI][hapmap]
rs16896503	0.83[TSI][hapmap]
rs16896518	0.83[TSI][hapmap]
rs1869607	0.83[TSI][hapmap]
rs2061053	0.82[TSI][hapmap]
rs4734378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735516	0.83[TSI][hapmap]
rs72675237	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72675238	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72675240	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72675242	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675251	0.91[EUR][1000 genomes]
rs72675254	0.91[EUR][1000 genomes]
rs72675259	0.85[EUR][1000 genomes]
rs753800	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs764568	0.80[EUR][1000 genomes]
rs930817	0.82[CHD][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4735508	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98892000-98918800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:98894000-98918600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:98903400-98918200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:98903600-98918400	Weak transcription	Brain Substantia Nigra	brain
5	chr8:98903600-98924200	Weak transcription	Fetal Kidney	kidney
6	chr8:98904000-98927600	Weak transcription	Esophagus	oesophagus
7	chr8:98905400-98918400	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:98910000-98921200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:98913400-98923200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:98914000-98924200	Weak transcription	Fetal Lung	lung
11	chr8:98914400-98918400	Weak transcription	Fetal Stomach	stomach
12	chr8:98915000-98923400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:98915400-98918400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:98915400-98921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:98915600-98919000	Enhancers	Liver	Liver
16	chr8:98915800-98918000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:98916000-98918600	Weak transcription	Ovary	ovary
18	chr8:98916200-98921800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:98916800-98918800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:98916800-98924000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:98917000-98921400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:98917400-98918200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:98917600-98918000	Enhancers	HepG2	liver
24	chr8:98917600-98919200	Enhancers	Adipose Nuclei	Adipose
25	chr8:98917800-98919200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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