Variant report

Variant	rs2722661
Chromosome Location	chr19:44906472-44906473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr19:44905255-44906576	A549	lung:	n/a	n/a

Variant related genes	Relation type
ZNF285	TF binding region
ENSG00000267173	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10425040	0.98[ASN][1000 genomes]
rs11881044	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12151055	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12151056	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12151064	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12971572	0.87[AMR][1000 genomes]
rs12973197	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12973212	0.96[ASN][1000 genomes]
rs1816464	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1816465	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1816466	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1816467	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2164114	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2437013	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2437014	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2437022	0.95[ASN][1000 genomes]
rs2466414	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2466415	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2571121	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2571122	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2571123	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2571124	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2571125	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2571126	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571127	0.98[ASN][1000 genomes]
rs2571128	0.98[ASN][1000 genomes]
rs2571129	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571130	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571131	0.97[ASN][1000 genomes]
rs2571132	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2571134	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2571136	0.98[ASN][1000 genomes]
rs2571141	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571143	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2571144	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2571145	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2571147	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571148	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571149	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571150	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571151	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571152	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2571153	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2571155	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2722646	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2722647	0.87[ASN][1000 genomes]
rs2722650	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2722652	0.92[ASN][1000 genomes]
rs2722653	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2722658	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722659	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2722660	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722662	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722664	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2722665	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2722667	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2722669	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28696788	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35650732	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4268861	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55949136	0.81[ASN][1000 genomes]
rs8102685	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs892593	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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
rs2722661	ZNF285	cis	Skin Sun Exposed Lower leg	GTEx
rs2722661	ZNF285	cis	Artery Aorta	GTEx
rs2722661	ZNF285	cis	Artery Tibial	GTEx
rs2722661	ZNF285	cis	Nerve Tibial	GTEx
rs2722661	ZNF285	cis	Esophagus Mucosa	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44904800-44906800	Active TSS	HSMMtube	muscle
2	chr19:44905000-44906800	Active TSS	Brain Cingulate Gyrus	brain
3	chr19:44905000-44907200	ZNF genes & repeats	Liver	Liver
4	chr19:44905200-44906600	Active TSS	Brain Hippocampus Middle	brain
5	chr19:44905200-44906600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr19:44905200-44906600	Active TSS	Fetal Brain Male	brain
7	chr19:44905200-44906600	Active TSS	Ovary	ovary
8	chr19:44905200-44906800	ZNF genes & repeats	Gastric	stomach
9	chr19:44905200-44906800	ZNF genes & repeats	Pancreas	Pancrea
10	chr19:44905200-44907200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:44905600-44906600	Active TSS	Duodenum Mucosa	Duodenum
12	chr19:44905800-44906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44905800-44907200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:44906000-44906600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr19:44906000-44906800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:44906000-44906800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:44906000-44907000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr19:44906000-44915200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:44906200-44906600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
20	chr19:44906200-44906600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
21	chr19:44906200-44906600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:44906200-44906800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:44906200-44906800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
24	chr19:44906200-44906800	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr19:44906200-44906800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:44906400-44906600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:44906400-44906600	Weak transcription	Right Atrium	heart
28	chr19:44906400-44906600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
29	chr19:44906400-44906800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:44906400-44906800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:44906400-44906800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:44906400-44906800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:44906400-44906800	ZNF genes & repeats	Fetal Lung	lung
34	chr19:44906400-44906800	Active TSS	Rectal Smooth Muscle	rectum
35	chr19:44906400-44906800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
36	chr19:44906400-44907000	ZNF genes & repeats	Primary T cells from cord blood	blood

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