Variant report

Variant	rs892593
Chromosome Location	chr19:44905282-44905283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10425040	1.00[ASN][1000 genomes]
rs11881044	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12151055	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12151056	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12151064	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12971572	0.85[AMR][1000 genomes]
rs12973197	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12973212	0.96[ASN][1000 genomes]
rs1816464	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1816465	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1816466	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1816467	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2164114	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2437013	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2437014	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2437022	0.95[ASN][1000 genomes]
rs2466414	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2466415	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2571121	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2571122	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2571123	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2571124	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2571125	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2571126	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2571127	0.98[ASN][1000 genomes]
rs2571128	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2571129	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2571130	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2571131	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571132	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2571134	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571136	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2571141	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571143	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2571144	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2571145	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2571147	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571148	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571149	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571150	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2571151	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571152	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571153	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571155	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2722646	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2722647	0.87[ASN][1000 genomes]
rs2722650	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2722652	0.92[ASN][1000 genomes]
rs2722653	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2722658	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722659	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2722660	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722661	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722662	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722664	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722665	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2722667	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2722669	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28696788	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35650732	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4268861	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8102685	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1062330	chr19:44863939-44938277	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv960889	chr19:44877441-44913480	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2763206	chr19:44885379-44941728	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv960852	chr19:44890187-44921203	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3318557	chr19:44892181-44938875	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3318558	chr19:44892356-44938748	Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv15098	chr19:44892380-44913200	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv9734	chr19:44892761-44940023	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv2756827	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv2758764	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1065783	chr19:44894164-44930803	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1055278	chr19:44896386-44907795	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1063780	chr19:44896386-44930803	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1059267	chr19:44896386-44938277	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1055870	chr19:44896386-44938779	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv2421963	chr19:44896398-44938791	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv442465	chr19:44896398-44938791	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv1058295	chr19:44896888-44938779	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv1065703	chr19:44898759-44938779	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv2754816	chr19:44899473-44930803	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1065424	chr19:44899546-44938779	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv817849	chr19:44903015-44935019	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs892593	ZNF285	cis	Artery Tibial	GTEx
rs892593	ZNF285	cis	Artery Aorta	GTEx
rs892593	ZNF285	cis	Esophagus Mucosa	GTEx
rs892593	ZNF285	cis	Nerve Tibial	GTEx
rs892593	ZNF285	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44904600-44906200	Active TSS	Fetal Brain Female	brain
2	chr19:44904800-44906200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44904800-44906200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:44904800-44906200	Active TSS	Brain Germinal Matrix	brain
5	chr19:44904800-44906200	Active TSS	Colon Smooth Muscle	Colon
6	chr19:44904800-44906400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:44904800-44906400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:44904800-44906400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:44904800-44906400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:44904800-44906800	Active TSS	HSMMtube	muscle
11	chr19:44905000-44905400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr19:44905000-44905400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:44905000-44905400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr19:44905000-44905400	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr19:44905000-44905600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:44905000-44905600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:44905000-44905600	Flanking Active TSS	HMEC	breast
18	chr19:44905000-44905800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:44905000-44905800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:44905000-44905800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr19:44905000-44906000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:44905000-44906000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:44905000-44906000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:44905000-44906000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr19:44905000-44906000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr19:44905000-44906000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr19:44905000-44906000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr19:44905000-44906000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:44905000-44906000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:44905000-44906000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:44905000-44906000	Active TSS	A549	lung
32	chr19:44905000-44906000	Active TSS	NH-A	brain
33	chr19:44905000-44906200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:44905000-44906200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr19:44905000-44906200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:44905000-44906200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:44905000-44906200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr19:44905000-44906200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:44905000-44906200	Active TSS	Primary hematopoietic stem cells	blood
40	chr19:44905000-44906200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:44905000-44906200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr19:44905000-44906200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:44905000-44906200	Active TSS	Fetal Intestine Large	intestine
44	chr19:44905000-44906200	Active TSS	Fetal Intestine Small	intestine
45	chr19:44905000-44906200	Active TSS	Fetal Kidney	kidney
46	chr19:44905000-44906200	Active TSS	Fetal Stomach	stomach
47	chr19:44905000-44906200	Active TSS	Right Ventricle	heart
48	chr19:44905000-44906200	Active TSS	NHEK	skin
49	chr19:44905000-44906400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:44905000-44906400	Active TSS	HUES6 Cell Line	embryonic stem cell

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