Variant report

Variant	rs60213885
Chromosome Location	chr19:37212429-37212430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1035777	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10402182	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10403456	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10407919	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11084861	0.86[ASN][1000 genomes]
rs11666769	0.95[ASN][1000 genomes]
rs11667894	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668432	0.92[ASN][1000 genomes]
rs11668689	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11669816	0.88[ASN][1000 genomes]
rs11670914	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671382	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12608459	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608512	0.85[ASN][1000 genomes]
rs12610555	0.89[ASN][1000 genomes]
rs12610572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357879	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464830	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464831	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1525133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673082	0.94[ASN][1000 genomes]
rs17272386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1985980	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052728	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2162296	0.83[ASN][1000 genomes]
rs2194976	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912399	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912412	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912440	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2912442	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2912443	0.82[ASN][1000 genomes]
rs2912444	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2912446	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2945964	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967427	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2967429	0.83[ASN][1000 genomes]
rs2967437	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967439	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967440	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967442	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967459	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2967464	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3096620	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3096637	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108593	0.86[EUR][1000 genomes]
rs3108605	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35299345	0.91[ASN][1000 genomes]
rs4806338	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4806339	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806348	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4806349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55940011	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55965207	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60297398	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61457535	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61628442	0.95[ASN][1000 genomes]
rs6510551	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66717711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66783290	0.88[ASN][1000 genomes]
rs67258954	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67995015	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68012004	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246216	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7251805	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73609113	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7507224	0.86[ASN][1000 genomes]
rs8100381	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8108985	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826987	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911649	chr19:37203249-37257192	ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
15	esv3508979	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
16	esv3508980	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60213885	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37213400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr19:37194400-37214400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:37194400-37214600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:37194400-37215600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37194400-37219400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37194400-37221400	ZNF genes & repeats	Dnd41	blood
8	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37194600-37213000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
10	chr19:37194600-37214400	ZNF genes & repeats	A549	lung
11	chr19:37194600-37214600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr19:37194600-37214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:37194600-37215000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:37194600-37215200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
18	chr19:37194800-37214600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:37196200-37214600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr19:37196400-37212600	ZNF genes & repeats	Fetal Lung	lung
21	chr19:37196400-37214200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:37196400-37214400	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr19:37196600-37214600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:37196800-37214600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:37197000-37212600	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr19:37197000-37215000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:37199000-37214400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr19:37199000-37215000	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr19:37200400-37214400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:37200600-37214200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:37200600-37214600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:37200600-37214800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:37201200-37214400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr19:37201200-37214400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr19:37201200-37215600	ZNF genes & repeats	Fetal Brain Female	brain
37	chr19:37201400-37212600	ZNF genes & repeats	Colonic Mucosa	Colon
38	chr19:37201400-37214000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr19:37201400-37214400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
40	chr19:37201400-37214800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr19:37202000-37214800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr19:37202200-37214400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:37205200-37213200	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr19:37205400-37212600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:37205400-37213200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr19:37205600-37212600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
47	chr19:37206600-37217800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
48	chr19:37206800-37214600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
49	chr19:37207200-37214400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr19:37208000-37212800	Strong transcription	Placenta	Placenta

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