Variant report

Variant	rs2967438
Chromosome Location	chr19:37050469-37050470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37050035..37052914-chr19:37064018..37065875,2	K562	blood:
2	chr19:37047289..37050700-chr19:37061573..37063531,3	K562	blood:
3	chr19:37050035..37052115-chr19:37063712..37065875,2	K562	blood:

Variant related genes	Relation type
ENSG00000186020	Chromatin interaction
ENSG00000233527	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1035777	0.92[ASN][1000 genomes]
rs10402182	0.83[ASN][1000 genomes]
rs10403456	0.81[ASN][1000 genomes]
rs10407919	0.87[ASN][1000 genomes]
rs11084861	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11666769	0.83[ASN][1000 genomes]
rs11667894	0.86[ASN][1000 genomes]
rs11668432	0.86[ASN][1000 genomes]
rs11668689	0.90[ASN][1000 genomes]
rs11669816	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11671382	0.82[ASN][1000 genomes]
rs12608459	0.90[ASN][1000 genomes]
rs12608512	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12610555	0.85[ASN][1000 genomes]
rs1464830	0.88[ASN][1000 genomes]
rs1464831	0.88[ASN][1000 genomes]
rs1673082	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17272386	0.83[ASN][1000 genomes]
rs1985980	0.89[ASN][1000 genomes]
rs2052728	0.95[ASN][1000 genomes]
rs2162296	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2194976	0.95[ASN][1000 genomes]
rs2912399	0.95[ASN][1000 genomes]
rs2912400	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2912404	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2912408	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2912412	0.95[ASN][1000 genomes]
rs2912440	0.92[ASN][1000 genomes]
rs2912442	0.94[ASN][1000 genomes]
rs2912443	0.93[ASN][1000 genomes]
rs2912444	0.95[ASN][1000 genomes]
rs2912446	0.95[ASN][1000 genomes]
rs2945964	0.94[ASN][1000 genomes]
rs2945978	0.87[ASN][1000 genomes]
rs2967427	0.92[ASN][1000 genomes]
rs2967429	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967436	0.87[ASN][1000 genomes]
rs2967437	0.90[ASN][1000 genomes]
rs2967439	0.94[ASN][1000 genomes]
rs2967440	0.94[ASN][1000 genomes]
rs2967442	0.94[ASN][1000 genomes]
rs2967459	0.92[ASN][1000 genomes]
rs2967461	0.90[ASN][1000 genomes]
rs2967463	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967464	0.94[ASN][1000 genomes]
rs2967473	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967545	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3096620	0.95[ASN][1000 genomes]
rs3096637	0.94[ASN][1000 genomes]
rs3108593	0.89[ASN][1000 genomes]
rs3108605	0.92[ASN][1000 genomes]
rs35299345	0.86[ASN][1000 genomes]
rs4806338	0.81[ASN][1000 genomes]
rs4806339	0.87[ASN][1000 genomes]
rs60297398	0.87[ASN][1000 genomes]
rs61457535	0.86[ASN][1000 genomes]
rs61628442	0.83[ASN][1000 genomes]
rs6510551	0.95[ASN][1000 genomes]
rs66783290	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs67258954	0.81[ASN][1000 genomes]
rs67995015	0.87[ASN][1000 genomes]
rs68012004	0.87[ASN][1000 genomes]
rs7246216	0.81[ASN][1000 genomes]
rs7251805	0.90[ASN][1000 genomes]
rs7507224	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8100381	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	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
7	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
8	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37021400-37061600	ZNF genes & repeats	Liver	Liver
2	chr19:37022800-37061200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37023000-37061800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37023200-37060200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr19:37023200-37061600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37023400-37060000	ZNF genes & repeats	Fetal Lung	lung
7	chr19:37023400-37062000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:37023400-37063000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:37023600-37061000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr19:37023800-37057800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:37023800-37058200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:37023800-37058200	ZNF genes & repeats	Dnd41	blood
13	chr19:37023800-37061600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:37025400-37052400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr19:37025600-37053000	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr19:37025600-37061000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr19:37025600-37062800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:37025800-37060200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
19	chr19:37027400-37054400	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr19:37028600-37050800	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr19:37028600-37055000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:37028600-37061800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:37028800-37054400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr19:37029000-37060000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr19:37031400-37056800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
26	chr19:37031400-37057800	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr19:37033400-37051000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:37034000-37054000	ZNF genes & repeats	A549	lung
29	chr19:37034000-37063000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:37034200-37052800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr19:37034200-37059600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr19:37034400-37052600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:37034800-37057200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr19:37036200-37059400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:37045600-37054400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr19:37047000-37058800	Weak transcription	K562	blood
37	chr19:37048000-37051800	Weak transcription	HSMMtube	muscle
38	chr19:37048400-37051600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:37048400-37062800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:37048800-37050800	Weak transcription	HSMM	muscle
41	chr19:37049600-37052800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
42	chr19:37049800-37052600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:37049800-37058000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr19:37049800-37061800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr19:37050000-37051000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:37050000-37051000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:37050000-37051000	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr19:37050000-37051000	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr19:37050000-37051200	ZNF genes & repeats	Small Intestine	intestine
50	chr19:37050000-37052200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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