Variant report

Variant	rs8019575
Chromosome Location	chr14:25319866-25319867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11158959	0.87[MEX][hapmap]
rs12432022	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1461642	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200659	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17200666	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17795604	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1957760	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2199394	0.83[AMR][1000 genomes]
rs2199395	0.83[AMR][1000 genomes]
rs4983023	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4983024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61976829	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61976831	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs725230	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs854314	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs965383	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8019575	RNASE7	cis	parietal	SCAN
rs8019575	SLC7A8	cis	cerebellum	SCAN
rs8019575	METTL3	cis	parietal	SCAN
rs8019575	OR10G2	cis	cerebellum	SCAN
rs8019575	REM2	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25288600-25322800	Weak transcription	Placenta	Placenta
2	chr14:25306600-25321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:25309000-25328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:25309800-25323000	Weak transcription	Pancreas	Pancrea
5	chr14:25309800-25324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:25310000-25321000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:25310200-25320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:25313800-25320800	Weak transcription	Left Ventricle	heart
9	chr14:25313800-25323400	Weak transcription	Small Intestine	intestine
10	chr14:25314600-25333600	Weak transcription	Lung	lung
11	chr14:25315400-25320800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:25315600-25320800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:25315600-25321000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:25315600-25321400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:25315600-25330400	Weak transcription	Brain Angular Gyrus	brain
16	chr14:25315800-25320200	Weak transcription	Fetal Intestine Large	intestine
17	chr14:25315800-25320800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:25315800-25320800	Weak transcription	HepG2	liver
19	chr14:25315800-25324200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:25316000-25320800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:25316000-25330400	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:25316600-25320800	Weak transcription	Fetal Intestine Small	intestine
23	chr14:25316800-25320200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:25317000-25320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:25317800-25323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:25317800-25344000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:25318000-25321200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:25318000-25328400	Weak transcription	Right Ventricle	heart
29	chr14:25318200-25320000	Enhancers	HSMMtube	muscle
30	chr14:25318200-25330200	Weak transcription	Fetal Heart	heart
31	chr14:25318400-25321200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:25318400-25321400	Weak transcription	Osteobl	bone
33	chr14:25319000-25320000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:25319000-25320800	Weak transcription	NH-A	brain
35	chr14:25319000-25330400	Weak transcription	Adipose Nuclei	Adipose
36	chr14:25319200-25320000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:25319200-25320800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:25319200-25321400	Weak transcription	HSMM	muscle
39	chr14:25319400-25321600	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:25319600-25320200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:25319600-25320400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:25319600-25320800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:25319600-25320800	Weak transcription	Brain Anterior Caudate	brain
44	chr14:25319600-25321200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:25319600-25321800	Strong transcription	Fetal Lung	lung
46	chr14:25319600-25322200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr14:25319600-25344600	Weak transcription	NHDF-Ad	bronchial
48	chr14:25319800-25320000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:25319800-25320600	Enhancers	HUES48 Cell Line	embryonic stem cell

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