Variant report

Variant	rs7158239
Chromosome Location	chr14:65520616-65520617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10143198	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10151162	0.85[CHB][hapmap];0.88[YRI][hapmap]
rs1124751	0.93[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs1124752	0.93[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs1256417	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1270074	0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.82[ASN][1000 genomes]
rs1271582	0.93[ASW][hapmap];0.86[CHB][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs1953232	0.86[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap]
rs1957948	0.93[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1957949	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1998688	0.93[ASW][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.82[LWK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2151755	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs2296316	0.85[CEU][hapmap]
rs2781373	0.93[ASW][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs2781374	0.82[AFR][1000 genomes]
rs2781375	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34459643	0.80[EUR][1000 genomes]
rs35410051	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35520739	0.82[EUR][1000 genomes]
rs4902357	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902359	0.93[ASW][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902360	0.93[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4902361	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7145112	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7150646	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152277	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7159443	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8005829	0.82[EUR][1000 genomes]
rs8008095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010213	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8011585	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8015921	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs942626	0.93[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942628	1.00[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942629	0.93[ASW][hapmap];0.80[CEU][hapmap];0.87[GIH][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs998247	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7158239	MAX	cis	cerebellum	SCAN
rs7158239	ATP6V1D	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:65493000-65521400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:65496800-65521200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:65501800-65543200	Weak transcription	Fetal Brain Male	brain
8	chr14:65502000-65521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:65502400-65523400	Weak transcription	Right Atrium	heart
10	chr14:65508200-65530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:65508400-65521200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:65508400-65527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:65508400-65527800	Weak transcription	Colonic Mucosa	Colon
14	chr14:65508400-65528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:65508600-65530800	Weak transcription	NHDF-Ad	bronchial
16	chr14:65508600-65542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:65508800-65521400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:65509400-65521000	Weak transcription	NHLF	lung
19	chr14:65509600-65528000	Weak transcription	Fetal Kidney	kidney
20	chr14:65510000-65521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:65510200-65521000	Weak transcription	A549	lung
22	chr14:65510200-65527800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:65511400-65521000	Weak transcription	HSMMtube	muscle
24	chr14:65511400-65521200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:65511600-65521200	Weak transcription	Brain Substantia Nigra	brain
26	chr14:65511600-65521200	Weak transcription	Pancreas	Pancrea
27	chr14:65511600-65521400	Weak transcription	Osteobl	bone
28	chr14:65511600-65528600	Weak transcription	NH-A	brain
29	chr14:65511800-65527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65512000-65521000	Weak transcription	Spleen	Spleen
31	chr14:65512000-65521200	Weak transcription	Primary B cells from cord blood	blood
32	chr14:65512000-65521200	Weak transcription	Brain Anterior Caudate	brain
33	chr14:65512000-65521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:65512600-65521000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:65512600-65521200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:65512800-65520800	Weak transcription	Brain Germinal Matrix	brain
37	chr14:65512800-65521000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:65514200-65521200	Weak transcription	Liver	Liver
39	chr14:65514400-65521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:65514400-65521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:65514400-65521200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:65514400-65521400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:65514600-65521200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:65514600-65521200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:65514600-65521200	Weak transcription	HSMM	muscle
46	chr14:65514600-65523200	Weak transcription	K562	blood
47	chr14:65514600-65527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:65514600-65527600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:65514600-65527600	Weak transcription	GM12878-XiMat	blood
50	chr14:65514800-65520800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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