Variant report

Variant	rs7151785
Chromosome Location	chr14:25510923-25510924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11626133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11626436	0.94[JPT][hapmap]
rs11627702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17185453	0.88[JPT][hapmap]
rs17257668	0.88[JPT][hapmap]
rs17257780	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1886055	0.88[JPT][hapmap]
rs1952494	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1952495	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1958384	0.89[ASN][1000 genomes]
rs1958386	0.89[ASN][1000 genomes]
rs2332464	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142942	0.89[ASN][1000 genomes]
rs7151656	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs726519	1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8007052	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8020392	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

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	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	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7151785	STXBP6	cis	parietal	SCAN
rs7151785	AP1G2	cis	cerebellum	SCAN
rs7151785	RPPH1	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
2	chr14:25497200-25515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:25503800-25515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:25504000-25511000	Weak transcription	Small Intestine	intestine
5	chr14:25506600-25511400	Weak transcription	Right Atrium	heart
6	chr14:25506800-25511200	Weak transcription	Brain Angular Gyrus	brain
7	chr14:25507000-25511000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:25507000-25511200	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:25507000-25511400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:25507000-25512000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:25507200-25511000	Weak transcription	Fetal Heart	heart
12	chr14:25507200-25511400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:25507600-25511600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:25508600-25512200	Enhancers	Stomach Mucosa	stomach
15	chr14:25508800-25511200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:25508800-25511600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:25509000-25511400	Weak transcription	Brain Anterior Caudate	brain
18	chr14:25509000-25513600	Weak transcription	Lung	lung
19	chr14:25509400-25511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:25509400-25513000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:25509600-25511000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:25510000-25515800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:25510400-25511400	Enhancers	Fetal Intestine Small	intestine
24	chr14:25510400-25512000	Enhancers	Fetal Intestine Large	intestine
25	chr14:25510600-25512600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:25510600-25512600	Enhancers	HepG2	liver
27	chr14:25510800-25511000	Flanking Active TSS	Fetal Lung	lung
28	chr14:25510800-25511000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr14:25510800-25511000	Enhancers	HSMMtube	muscle
30	chr14:25510800-25511200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr14:25510800-25511600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr14:25510800-25511800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr14:25510800-25511800	Strong transcription	HSMM	muscle
34	chr14:25510800-25512000	Enhancers	Pancreas	Pancrea
35	chr14:25510800-25512000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:25510800-25512000	Enhancers	Right Ventricle	heart
37	chr14:25510800-25512200	Enhancers	Liver	Liver
38	chr14:25510800-25512200	Enhancers	Left Ventricle	heart
39	chr14:25510800-25514200	Enhancers	Brain Hippocampus Middle	brain
40	chr14:25510800-25514400	Enhancers	Brain Substantia Nigra	brain

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