Variant report

Variant	rs12978093
Chromosome Location	chr19:37584416-37584417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37584170..37586208-chr19:37589413..37591212,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10401380	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10401525	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10401561	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10402050	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10404069	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10404973	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10405372	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10406612	0.84[EUR][1000 genomes]
rs10407014	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10407224	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10407265	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10408199	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10410905	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10411037	0.93[EUR][1000 genomes]
rs10411176	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10412236	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10413101	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10413304	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10414107	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10414227	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10414983	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10417545	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10418314	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10419174	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10419845	0.85[EUR][1000 genomes]
rs10422428	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10424841	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425441	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10426093	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11084873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12972146	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12975706	0.94[EUR][1000 genomes]
rs12983153	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13346284	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1617883	0.93[EUR][1000 genomes]
rs1628959	0.88[EUR][1000 genomes]
rs1644702	0.89[EUR][1000 genomes]
rs1644704	0.89[EUR][1000 genomes]
rs2385412	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28462002	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28631881	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs28660259	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28701616	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34193103	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34915391	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35522655	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35655645	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4473303	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4805198	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4805207	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4805208	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806406	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806414	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62108899	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62109879	0.93[EUR][1000 genomes]
rs6510583	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7246473	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7247758	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7249696	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7259878	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs8101338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111936	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription 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	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
14	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37571000-37594800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37572400-37594600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr19:37572600-37595400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:37572800-37594600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:37572800-37594800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37572800-37595400	ZNF genes & repeats	Liver	Liver
7	chr19:37575400-37592400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:37575400-37595200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:37575800-37594800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:37576000-37587800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr19:37576200-37588000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr19:37576200-37591200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
13	chr19:37576200-37595600	ZNF genes & repeats	Ovary	ovary
14	chr19:37576200-37595800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr19:37577400-37592400	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:37578800-37585600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:37578800-37585600	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr19:37578800-37594600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:37578800-37594800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:37579000-37585000	ZNF genes & repeats	Fetal Lung	lung
21	chr19:37579000-37585400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr19:37579000-37587800	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr19:37579000-37594800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
24	chr19:37579200-37588000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:37579200-37593800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr19:37579400-37594800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr19:37579600-37595400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:37579800-37584600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr19:37579800-37584800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:37579800-37584800	ZNF genes & repeats	Fetal Kidney	kidney
31	chr19:37579800-37584800	ZNF genes & repeats	Thymus	Thymus
32	chr19:37579800-37585000	Strong transcription	Brain Anterior Caudate	brain
33	chr19:37579800-37585000	Strong transcription	Placenta	Placenta
34	chr19:37579800-37585200	ZNF genes & repeats	GM12878-XiMat	blood
35	chr19:37579800-37585400	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr19:37579800-37585600	Strong transcription	Brain Cingulate Gyrus	brain
37	chr19:37579800-37586000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:37579800-37587400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:37579800-37587400	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr19:37579800-37590200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr19:37579800-37591200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:37579800-37594800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr19:37579800-37595000	ZNF genes & repeats	Fetal Brain Female	brain
44	chr19:37580000-37584800	ZNF genes & repeats	A549	lung
45	chr19:37580000-37585000	Strong transcription	HSMMtube	muscle
46	chr19:37580000-37586000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:37580000-37586600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:37580000-37587000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:37580000-37587800	Strong transcription	Brain Angular Gyrus	brain
50	chr19:37580000-37587800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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