Variant report

Variant	rs2571144
Chromosome Location	chr19:44903896-44903897
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10425040	0.93[ASN][1000 genomes]
rs11881044	0.93[ASN][1000 genomes]
rs12151055	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12151056	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12151064	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12973197	0.90[ASN][1000 genomes]
rs12973212	0.91[ASN][1000 genomes]
rs1816464	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1816465	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1816466	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1816467	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2164114	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2437013	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2437014	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2437022	0.90[ASN][1000 genomes]
rs2466414	0.91[ASN][1000 genomes]
rs2466415	0.91[ASN][1000 genomes]
rs2571121	0.91[ASN][1000 genomes]
rs2571122	0.88[ASN][1000 genomes]
rs2571123	0.91[ASN][1000 genomes]
rs2571124	0.93[ASN][1000 genomes]
rs2571125	0.93[ASN][1000 genomes]
rs2571126	0.92[ASN][1000 genomes]
rs2571127	0.93[ASN][1000 genomes]
rs2571128	0.93[ASN][1000 genomes]
rs2571129	0.92[ASN][1000 genomes]
rs2571130	0.92[ASN][1000 genomes]
rs2571131	0.92[ASN][1000 genomes]
rs2571132	0.92[ASN][1000 genomes]
rs2571134	0.90[ASN][1000 genomes]
rs2571136	0.93[ASN][1000 genomes]
rs2571141	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2571145	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571147	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2571148	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2571149	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2571150	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2571151	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2571152	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2571153	0.94[ASN][1000 genomes]
rs2571155	0.87[ASN][1000 genomes]
rs2722646	0.91[ASN][1000 genomes]
rs2722647	0.81[ASN][1000 genomes]
rs2722650	0.92[ASN][1000 genomes]
rs2722652	0.89[ASN][1000 genomes]
rs2722653	0.82[ASN][1000 genomes]
rs2722658	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2722659	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722660	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2722661	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2722662	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2722664	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2722665	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2722667	0.90[ASN][1000 genomes]
rs2722669	0.90[ASN][1000 genomes]
rs28696788	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35650732	0.90[ASN][1000 genomes]
rs4268861	0.92[ASN][1000 genomes]
rs8102685	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs892593	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[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
rs2571144	ZNF285	cis	Esophagus Mucosa	GTEx
rs2571144	ZNF285	cis	Artery Tibial	GTEx
rs2571144	ZNF285	cis	Nerve Tibial	GTEx
rs2571144	ZNF285	cis	Skin Sun Exposed Lower leg	GTEx
rs2571144	ZNF285	cis	Artery Aorta	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44888200-44904800	Weak transcription	Fetal Brain Male	brain
2	chr19:44889000-44905000	Weak transcription	Right Ventricle	heart
3	chr19:44889800-44904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:44890200-44904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44890200-44904800	Weak transcription	HSMMtube	muscle
6	chr19:44890600-44905000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:44891400-44905200	Weak transcription	Gastric	stomach
8	chr19:44892200-44905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:44892400-44905000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:44893200-44905000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:44893600-44905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:44893800-44905200	Weak transcription	Thymus	Thymus
13	chr19:44894600-44905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:44895000-44905000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:44895200-44904800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:44896000-44905000	Weak transcription	Osteobl	bone
17	chr19:44896400-44905200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:44897200-44905000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:44897600-44905200	Weak transcription	HUVEC	blood vessel
20	chr19:44899600-44905200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:44900200-44905000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:44900200-44905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:44900200-44905000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:44900200-44905000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:44900200-44905200	Weak transcription	Aorta	Aorta
26	chr19:44900200-44905200	Weak transcription	Pancreas	Pancrea
27	chr19:44900200-44905200	Weak transcription	Psoas Muscle	Psoas
28	chr19:44900400-44905000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:44900400-44905000	Weak transcription	Fetal Intestine Large	intestine
30	chr19:44900400-44905000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:44900800-44905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:44901000-44904800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:44901200-44904800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44901200-44904800	Weak transcription	Brain Germinal Matrix	brain
35	chr19:44901200-44905000	Weak transcription	Primary T cells from cord blood	blood
36	chr19:44901200-44905000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:44901200-44905000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr19:44901200-44905000	Weak transcription	Fetal Muscle Leg	muscle
39	chr19:44901200-44905000	Weak transcription	Fetal Stomach	stomach
40	chr19:44901200-44905000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:44901200-44905200	Weak transcription	Left Ventricle	heart
42	chr19:44901400-44905000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr19:44901400-44905000	Weak transcription	Brain Anterior Caudate	brain
44	chr19:44901600-44905000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:44901600-44905000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:44901600-44905000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:44901600-44905000	Weak transcription	A549	lung
48	chr19:44901800-44904800	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:44901800-44904800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr19:44901800-44905000	Weak transcription	Primary B cells from cord blood	blood

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