Variant report

Variant	rs7842443
Chromosome Location	chr8:10230044-10230045
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11249992	0.85[CHD][hapmap]
rs11249993	0.92[ASN][1000 genomes]
rs11249994	0.84[JPT][hapmap]
rs11249999	0.81[CHD][hapmap]
rs11783514	0.87[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11989029	0.83[JPT][hapmap]
rs12544727	0.87[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs13272232	0.81[ASN][1000 genomes]
rs13273009	0.87[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.89[MKK][hapmap];0.96[ASN][1000 genomes]
rs17151824	0.83[MEX][hapmap]
rs17151892	0.82[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs17151898	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs17151899	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs17151903	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1986677	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[ASN][1000 genomes]
rs2001338	0.81[CHD][hapmap]
rs2001365	0.82[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3088186	0.89[CHD][hapmap]
rs6601447	0.93[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.91[ASN][1000 genomes]
rs7840461	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs9657539	0.80[CHB][hapmap];0.82[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7842443	MFHAS1	cis	cerebellum	SCAN
rs7842443	DEFB134	cis	cerebellum	SCAN

Chromatin state (count:35 , 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	chr8:10221000-10235200	Weak transcription	Right Ventricle	heart
4	chr8:10223600-10231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:10223800-10235400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:10224000-10255800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:10224200-10231000	Weak transcription	Spleen	Spleen
8	chr8:10224400-10235200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10225800-10233600	Weak transcription	Primary B cells from cord blood	blood
10	chr8:10226200-10233000	Weak transcription	Fetal Brain Female	brain
11	chr8:10227600-10230400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:10227800-10234400	Weak transcription	Fetal Intestine Large	intestine
13	chr8:10228200-10233000	Weak transcription	NHDF-Ad	bronchial
14	chr8:10228600-10247800	Weak transcription	Liver	Liver
15	chr8:10229000-10232200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:10229000-10239400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:10229400-10230400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:10229400-10230400	Enhancers	Fetal Brain Male	brain
19	chr8:10229400-10231000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:10229400-10233200	Weak transcription	HSMMtube	muscle
21	chr8:10229400-10233600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:10229400-10233600	Weak transcription	Right Atrium	heart
23	chr8:10229400-10233600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:10229400-10235200	Weak transcription	Psoas Muscle	Psoas
25	chr8:10229600-10232800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:10229800-10233000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:10229800-10233400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:10229800-10233600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:10229800-10233800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:10229800-10234600	Weak transcription	Left Ventricle	heart
31	chr8:10230000-10230400	Enhancers	Primary T cells from cord blood	blood
32	chr8:10230000-10233000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:10230000-10233400	Weak transcription	Brain Anterior Caudate	brain
34	chr8:10230000-10233800	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:10230000-10234000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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