Variant report

Variant	rs2385803
Chromosome Location	chr19:36891365-36891366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36891345-36891395	BJ	skin:	n/a
2	chr19:36891345-36891395	HPAEpiC	pulmonary alveolar:	n/a
3	chr19:36891345-36891395	CMK	blood:	n/a
4	chr19:36891345-36891395	GM06990	blood:	n/a
5	chr19:36891345-36891395	NH-A	brain:	n/a
6	chr19:36891345-36891395	SK-N-SH	brain:	n/a
7	chr19:36891345-36891395	U87	brain:	n/a
8	chr19:36891345-36891395	GM12878	blood:	n/a
9	chr19:36891345-36891395	HEK293	kidney:	embryo
10	chr19:36891345-36891395	AG04449	skin:	fetal
11	chr19:36891345-36891395	ovcar-3	ovarian:	n/a
12	chr19:36891345-36891395	NT2-D1	testis:	n/a
13	chr19:36891345-36891395	HCPEpiC	choroid plexus:	n/a
14	chr19:36891345-36891395	PrEC	prostate:	n/a
15	chr19:36891345-36891395	GM19239	blood:	n/a
16	chr19:36891345-36891395	Jurkat	blood:	n/a
17	chr19:36891345-36891395	HMEC	breast:	n/a
18	chr19:36891345-36891395	HEEpiC	esophagus:	n/a
19	chr19:36891345-36891395	HL-60	blood:	n/a
20	chr19:36891345-36891395	K562	blood:	n/a
21	chr19:36891345-36891395	ECC-1	luminal epithelium:	n/a
22	chr19:36891345-36891395	SAEC	small airway:	n/a
23	chr19:36891345-36891395	AG09319	gingival:	n/a
24	chr19:36891345-36891395	HCF	heart:	n/a
25	chr19:36891345-36891395	HRE	kidney:	n/a
26	chr19:36891345-36891395	Hepatocyte	liver:	n/a
27	chr19:36891345-36891395	Caco-2	colon:	n/a
28	chr19:36891345-36891395	SK-N-SH_RA	brain:	n/a
29	chr19:36891345-36891395	AoSMC	blood vessel:	n/a
30	chr19:36891345-36891395	A549	lung:	n/a
31	chr19:36891345-36891395	GM12891	blood:	n/a
32	chr19:36891345-36891395	HRPEpiC	eye:	n/a
33	chr19:36891345-36891395	HCM	heart:	n/a
34	chr19:36891345-36891395	HepG2	liver:	n/a
35	chr19:36891345-36891395	T-47D	breast:	n/a
36	chr19:36891345-36891395	HIPEpiC	eye:	n/a
37	chr19:36891345-36891395	AG10803	skin:	n/a
38	chr19:36891345-36891395	PANC-1	pancreas:	n/a
39	chr19:36891345-36891395	HUVEC	blood vessel:	n/a
40	chr19:36891345-36891395	IMR90	lung:	fetal
41	chr19:36891345-36891395	ProgFib	skin:	n/a
42	chr19:36891345-36891395	Hela-S3	cervix:	n/a
43	chr19:36891345-36891395	LNCaP	prostate:	n/a
44	chr19:36891345-36891395	NHBE	bronchial:	n/a
45	chr19:36891345-36891395	H1-hESC	embryonic stem cell:	embryo
46	chr19:36891345-36891395	PFSK-1	brain:	n/a
47	chr19:36891345-36891395	GM12892	blood:	n/a
48	chr19:36891345-36891395	BE2_C	brain:	n/a
49	chr19:36891345-36891395	AG04450	lung:	fetal
50	chr19:36891345-36891395	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
ZFP82	CpG island

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10402405	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10404574	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10409091	0.91[CHB][hapmap]
rs10414054	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10418510	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10420610	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10426014	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10439091	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12459465	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12971694	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12976881	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070132	0.86[CHB][hapmap]
rs2271844	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385799	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385801	1.00[CEU][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2385804	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2385805	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2432039	0.86[CHB][hapmap]
rs2432045	0.86[CHB][hapmap]
rs2432049	0.86[CHB][hapmap]
rs2432054	0.86[CHB][hapmap]
rs2438514	0.86[CHB][hapmap]
rs2438517	0.86[CHB][hapmap]
rs2918349	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945945	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945948	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2945949	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945950	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945951	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945957	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945961	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945963	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945971	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945972	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945985	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs2945992	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945993	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2945994	0.89[ASN][1000 genomes]
rs2945995	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967484	0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2967493	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2967496	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2967501	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2967504	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]
rs2967506	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2967509	0.95[ASN][1000 genomes]
rs2967510	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967512	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2967515	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967517	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967518	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967521	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967523	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967524	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967526	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2967543	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2972633	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239585	0.86[CHB][hapmap]
rs4806321	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5021030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58703752	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62112565	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6417185	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6510541	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6510542	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246106	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7251979	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7255260	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7255403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8106095	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8109320	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8109333	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8112312	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8182628	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2385803	LOC284412	N/A	lymphoblastoid	RTeQTL
rs2385803	LINC00665	cis	Muscle Skeletal	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36880400-36892800	ZNF genes & repeats	Liver	Liver
2	chr19:36880400-36893200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:36880400-36904600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:36880600-36893000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
5	chr19:36880600-36893200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:36881400-36892800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:36882000-36891800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr19:36882200-36892800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:36882200-36908800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:36882400-36892000	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:36882400-36892800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:36882400-36896600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:36882400-36907600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:36882600-36893600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr19:36882600-36904200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:36882800-36893000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:36883000-36892800	ZNF genes & repeats	Ovary	ovary
18	chr19:36883000-36893000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:36883000-36893400	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr19:36883000-36905200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
21	chr19:36883200-36892800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:36883600-36893800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr19:36885600-36908000	Weak transcription	K562	blood
24	chr19:36886200-36893800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:36886400-36901000	Weak transcription	Stomach Mucosa	stomach
26	chr19:36886600-36891400	Weak transcription	Brain Anterior Caudate	brain
27	chr19:36886600-36891400	Weak transcription	Fetal Kidney	kidney
28	chr19:36886600-36891400	Weak transcription	NHLF	lung
29	chr19:36886600-36891600	Weak transcription	Fetal Heart	heart
30	chr19:36886600-36891600	Weak transcription	HUVEC	blood vessel
31	chr19:36886600-36895200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:36886600-36895200	Weak transcription	Right Ventricle	heart
33	chr19:36886600-36898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:36886800-36895000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:36887400-36891400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:36887400-36892400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:36887600-36891600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr19:36887800-36892000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36888400-36891600	Strong transcription	HSMM	muscle
40	chr19:36888400-36892800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr19:36888400-36893600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:36888400-36893800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr19:36888400-36901200	Strong transcription	Brain Hippocampus Middle	brain
44	chr19:36888600-36891400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:36888800-36892800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr19:36888800-36893000	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr19:36888800-36893200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:36888800-36893600	Strong transcription	Thymus	Thymus
49	chr19:36888800-36893600	Strong transcription	Osteobl	bone
50	chr19:36888800-36895000	Weak transcription	Fetal Thymus	thymus

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