Variant report

Variant	rs6984231
Chromosome Location	chr8:10227228-10227229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11249994	0.83[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs11249996	0.81[CHD][hapmap]
rs1133184	0.88[CHB][hapmap];0.91[CHD][hapmap]
rs11989029	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11997177	0.90[ASN][1000 genomes]
rs12543645	0.84[CHD][hapmap]
rs13272232	0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17151824	0.97[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs60937041	0.90[ASN][1000 genomes]
rs6601449	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6997515	0.87[ASN][1000 genomes]
rs7015455	0.94[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7821526	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6984231	MSRA	cis	parietal	SCAN
rs6984231	AGPAT5	cis	cerebellum	SCAN
rs6984231	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
3	chr8:10196800-10228000	Weak transcription	Liver	Liver
4	chr8:10220800-10228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:10221000-10235200	Weak transcription	Right Ventricle	heart
6	chr8:10221200-10228200	Weak transcription	Fetal Intestine Small	intestine
7	chr8:10221200-10229200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:10222200-10230000	Weak transcription	Primary T cells from cord blood	blood
9	chr8:10222600-10227400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:10223600-10228000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:10223600-10231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:10223800-10227600	Weak transcription	NHDF-Ad	bronchial
13	chr8:10223800-10227800	Weak transcription	Right Atrium	heart
14	chr8:10223800-10229400	Enhancers	HSMMtube	muscle
15	chr8:10223800-10235400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:10224000-10228800	Weak transcription	Left Ventricle	heart
17	chr8:10224000-10255800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:10224200-10228000	Weak transcription	Brain Anterior Caudate	brain
19	chr8:10224200-10228800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:10224200-10231000	Weak transcription	Spleen	Spleen
21	chr8:10224400-10227400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:10224400-10235200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:10224600-10229000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:10224600-10229600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:10225800-10233600	Weak transcription	Primary B cells from cord blood	blood
26	chr8:10226200-10228000	Weak transcription	NH-A	brain
27	chr8:10226200-10233000	Weak transcription	Fetal Brain Female	brain
28	chr8:10226400-10228200	Weak transcription	HMEC	breast
29	chr8:10226400-10228800	Weak transcription	Fetal Brain Male	brain
30	chr8:10226400-10229200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:10226600-10227600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:10226600-10227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:10226600-10228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:10226600-10228800	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:10226600-10229400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:10227000-10227400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:10227000-10228000	Weak transcription	HSMM	muscle

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