Variant report

Variant	rs930817
Chromosome Location	chr8:98944327-98944328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12675146	0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs12675608	0.85[EUR][1000 genomes]
rs16896429	0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16896467	0.88[JPT][hapmap]
rs16896468	0.88[JPT][hapmap]
rs16896471	0.88[JPT][hapmap]
rs16896476	0.88[JPT][hapmap]
rs35407519	0.82[EUR][1000 genomes]
rs4734378	0.81[EUR][1000 genomes]
rs4735508	0.82[CHD][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs4735514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735516	0.88[JPT][hapmap]
rs72675242	0.81[EUR][1000 genomes]
rs72675251	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72675254	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72675259	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72677062	0.82[EUR][1000 genomes]
rs72677068	0.82[EUR][1000 genomes]
rs753800	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs764568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs930817	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98929200-98944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:98930800-98950000	Weak transcription	Right Ventricle	heart
3	chr8:98935200-98944400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:98938200-98944400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
7	chr8:98938600-98944400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:98938800-98944400	Weak transcription	Left Ventricle	heart
9	chr8:98939000-98944400	Weak transcription	Right Atrium	heart
10	chr8:98939000-98944400	Weak transcription	Stomach Mucosa	stomach
11	chr8:98940200-98947400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:98940800-98944600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
14	chr8:98941600-98944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:98941800-98944400	Weak transcription	Fetal Lung	lung
16	chr8:98942000-98944400	Weak transcription	HSMMtube	muscle
17	chr8:98942200-98944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:98942200-98944400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:98942200-98944600	Weak transcription	HSMM	muscle
20	chr8:98942200-98946200	Enhancers	Liver	Liver
21	chr8:98942200-98949200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:98942400-98944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:98942400-98944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:98942400-98944400	Weak transcription	Spleen	Spleen
25	chr8:98942400-98944600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:98942400-98945400	Weak transcription	A549	lung
27	chr8:98942400-98956200	Weak transcription	NHLF	lung
28	chr8:98942600-98944400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:98942600-98944600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:98942600-98945400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:98942800-98944400	Weak transcription	HMEC	breast
32	chr8:98943000-98944800	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr8:98943200-98944600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:98943200-98944800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:98943200-98946200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:98943200-98946600	Genic enhancers	Fetal Muscle Leg	muscle
37	chr8:98943200-98946800	Enhancers	Placenta	Placenta
38	chr8:98943400-98944400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:98943400-98944400	Weak transcription	Fetal Heart	heart
40	chr8:98943400-98944600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:98943400-98944800	Strong transcription	Fetal Intestine Small	intestine
42	chr8:98943400-98945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:98943600-98944400	Strong transcription	Fetal Kidney	kidney
44	chr8:98943600-98944600	Weak transcription	Lung	lung
45	chr8:98943600-98945600	Genic enhancers	Placenta Amnion	Placenta Amnion
46	chr8:98943800-98945600	Enhancers	K562	blood
47	chr8:98943800-98945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:98943800-98946600	Enhancers	NHEK	skin
49	chr8:98943800-98946800	Enhancers	Ovary	ovary
50	chr8:98944000-98944400	Weak transcription	Brain Hippocampus Middle	brain

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