Variant report

Variant	rs2967504
Chromosome Location	chr19:36906273-36906274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10402405	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10404574	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10414054	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10418510	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10420610	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10426014	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10439091	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12459465	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12971694	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12976881	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070132	0.81[CHB][hapmap]
rs2271844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385799	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385800	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385801	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385803	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385804	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2385805	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2432039	0.82[CHB][hapmap]
rs2432045	0.81[CHB][hapmap]
rs2432049	0.82[CHB][hapmap]
rs2432054	0.81[CHB][hapmap]
rs2438514	0.81[CHB][hapmap]
rs2438517	0.81[CHB][hapmap]
rs2918349	0.85[ASN][1000 genomes]
rs2945945	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2945948	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2945949	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945950	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2945951	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945957	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945961	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945963	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945971	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2945972	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945985	1.00[CEU][hapmap]
rs2945992	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945993	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945994	0.90[ASN][1000 genomes]
rs2945995	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967484	0.83[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2967501	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2967506	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2967509	0.94[ASN][1000 genomes]
rs2967510	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967512	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967515	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967517	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967518	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967521	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967523	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967526	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2967543	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2972633	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4239585	0.86[CHB][hapmap]
rs4806321	0.81[ASN][1000 genomes]
rs5021030	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58703752	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62112565	0.82[ASN][1000 genomes]
rs6417185	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6510541	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6510542	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246106	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7251979	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7255260	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7255403	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8106095	0.93[ASN][1000 genomes]
rs8109320	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8109333	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8112312	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8182628	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2967504	LOC284412	N/A	lymphoblastoid	RTeQTL
rs2967504	ZFP14	cis	Lymphoblastoid	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36882200-36908800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:36882400-36907600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:36885600-36908000	Weak transcription	K562	blood
4	chr19:36889800-36908200	Weak transcription	HepG2	liver
5	chr19:36891800-36908200	Weak transcription	Fetal Heart	heart
6	chr19:36891800-36908200	Weak transcription	Hela-S3	cervix
7	chr19:36895000-36908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:36896600-36908200	Weak transcription	Right Ventricle	heart
9	chr19:36896600-36908400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:36897200-36908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:36898400-36906800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:36898400-36908600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:36899000-36908200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:36899200-36908400	Weak transcription	NH-A	brain
15	chr19:36899800-36908200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:36900000-36908200	Weak transcription	HUVEC	blood vessel
17	chr19:36900400-36908200	Weak transcription	Brain Substantia Nigra	brain
18	chr19:36900400-36908400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:36900600-36908000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:36900800-36908200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:36900800-36908400	Weak transcription	Small Intestine	intestine
22	chr19:36901000-36907400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:36901000-36908000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:36901000-36908000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:36901000-36908400	Weak transcription	Fetal Kidney	kidney
26	chr19:36901000-36908400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:36901000-36908400	Weak transcription	HSMMtube	muscle
28	chr19:36901200-36908000	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:36901200-36908000	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:36901200-36908200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:36901200-36908200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:36901200-36908200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:36901200-36908200	Weak transcription	Thymus	Thymus
34	chr19:36901200-36908400	Weak transcription	Colonic Mucosa	Colon
35	chr19:36901200-36908400	Weak transcription	Pancreas	Pancrea
36	chr19:36901200-36908400	Weak transcription	NHDF-Ad	bronchial
37	chr19:36901400-36908200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:36901400-36908200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:36901400-36908400	Weak transcription	Placenta	Placenta
40	chr19:36901800-36908400	Weak transcription	Left Ventricle	heart
41	chr19:36902000-36907600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:36903200-36907400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr19:36903400-36907400	ZNF genes & repeats	Fetal Brain Female	brain
44	chr19:36903600-36906600	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr19:36903800-36908000	Weak transcription	Adipose Nuclei	Adipose
46	chr19:36903800-36908200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:36903800-36908600	Weak transcription	Aorta	Aorta
48	chr19:36904000-36906400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:36904000-36908000	Weak transcription	Brain Anterior Caudate	brain
50	chr19:36904000-36908000	Weak transcription	Duodenum Mucosa	Duodenum

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