Variant report

Variant	rs995976
Chromosome Location	chr5:146827720-146827721
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10056132	1.00[CEU][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10064194	0.82[CHB][hapmap];0.88[CHD][hapmap];0.84[YRI][hapmap]
rs10079318	0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs1432842	0.83[ASN][1000 genomes]
rs4705171	0.96[CEU][hapmap];0.93[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs4705172	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7713047	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7725771	0.93[ASW][hapmap];0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7732327	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7734086	0.84[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs995976	DPYSL3	cis	cerebellum	SCAN
rs995976	ABLIM3	cis	parietal	SCAN
rs995976	PRELID2	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
3	chr5:146813200-146828200	Weak transcription	NHLF	lung
4	chr5:146817200-146829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:146817200-146830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
7	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
9	chr5:146822200-146828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:146823200-146831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:146823600-146828600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:146824600-146830800	Enhancers	Ovary	ovary
13	chr5:146825000-146828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:146825800-146828400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:146826000-146828800	Weak transcription	Placenta	Placenta
16	chr5:146826400-146828200	Weak transcription	Brain Anterior Caudate	brain
17	chr5:146826400-146828400	Weak transcription	HSMMtube	muscle
18	chr5:146826600-146827800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:146826600-146828200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:146826600-146828200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:146826600-146828200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:146826600-146828200	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:146826600-146828200	Weak transcription	Fetal Stomach	stomach
24	chr5:146826600-146828600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:146826600-146828600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:146826600-146829000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:146826600-146829200	Enhancers	Fetal Brain Male	brain
28	chr5:146826600-146830000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:146826600-146830800	Weak transcription	Aorta	Aorta
30	chr5:146826600-146830800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:146826600-146830800	Weak transcription	Left Ventricle	heart
32	chr5:146826600-146830800	Weak transcription	Right Atrium	heart
33	chr5:146826600-146830800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:146826600-146831000	Weak transcription	Adipose Nuclei	Adipose
35	chr5:146826600-146831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:146826600-146831800	Weak transcription	Lung	lung
37	chr5:146826600-146832000	Weak transcription	Fetal Heart	heart
38	chr5:146826600-146832000	Weak transcription	Psoas Muscle	Psoas
39	chr5:146826800-146827800	Enhancers	Fetal Brain Female	brain
40	chr5:146826800-146828200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:146826800-146828400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:146826800-146830800	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:146827000-146828000	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:146827000-146828000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:146827000-146828000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:146827000-146828200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:146827000-146828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:146827000-146828200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:146827000-146828200	Active TSS	Brain Germinal Matrix	brain
50	chr5:146827000-146828200	Weak transcription	NH-A	brain

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