Variant report

Variant	rs2912442
Chromosome Location	chr19:37033508-37033509
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37026011..37027946-chr19:37031327..37033771,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1035777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10402182	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10403456	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10407919	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11084861	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11667894	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11668432	0.81[ASN][1000 genomes]
rs11668689	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11669816	0.85[ASN][1000 genomes]
rs11670914	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11671382	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11672098	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12608459	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12608512	0.82[ASN][1000 genomes]
rs12610555	0.80[ASN][1000 genomes]
rs12610572	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1357879	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs1464830	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1464831	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1525133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17272386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1985980	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162296	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2194976	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912399	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912400	0.91[ASN][1000 genomes]
rs2912404	0.89[ASN][1000 genomes]
rs2912408	0.94[ASN][1000 genomes]
rs2912412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912440	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912443	0.99[ASN][1000 genomes]
rs2912444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945964	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945978	0.83[ASN][1000 genomes]
rs2967427	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967429	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2967436	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2967437	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2967438	0.94[ASN][1000 genomes]
rs2967439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2967459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967461	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967463	0.95[ASN][1000 genomes]
rs2967464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967473	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2967545	0.83[ASN][1000 genomes]
rs3096620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3096637	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108593	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35299345	0.81[ASN][1000 genomes]
rs4806338	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4806339	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806349	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55940011	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60213885	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60297398	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61457535	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6510551	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66717711	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66783290	0.85[ASN][1000 genomes]
rs67258954	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67995015	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68012004	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7246216	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7251805	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73609113	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7507224	1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs8100381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8108985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs826987	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	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
9	nsv1056134	chr19:37022039-37056943	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2912442	ZNF567	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37020400-37034600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
3	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37023200-37048400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:37023400-37048800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:37023400-37060000	ZNF genes & repeats	Fetal Lung	lung
10	chr19:37023400-37062000	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:37023400-37063000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:37023600-37061000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr19:37023800-37057800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:37023800-37058200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:37023800-37058200	ZNF genes & repeats	Dnd41	blood
16	chr19:37023800-37061600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:37025400-37052400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr19:37025600-37049000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr19:37025600-37053000	ZNF genes & repeats	Brain Anterior Caudate	brain
20	chr19:37025600-37061000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:37025600-37062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:37025800-37048000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37025800-37048400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr19:37025800-37060200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr19:37027400-37054400	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr19:37027600-37049200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
27	chr19:37028200-37045800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:37028600-37035000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:37028600-37035000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:37028600-37050800	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr19:37028600-37055000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:37028600-37061800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr19:37028800-37035000	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr19:37028800-37048800	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr19:37028800-37054400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
36	chr19:37029000-37035000	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr19:37029000-37060000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr19:37029800-37034800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:37030600-37035000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:37030600-37048600	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr19:37031200-37034400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:37031400-37034800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:37031400-37035200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr19:37031400-37036600	ZNF genes & repeats	Placenta	Placenta
45	chr19:37031400-37047800	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr19:37031400-37049600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr19:37031400-37056800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr19:37031400-37057800	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr19:37032000-37034800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
50	chr19:37032200-37033600	Weak transcription	Right Ventricle	heart

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