Variant report

Variant	rs4806293
Chromosome Location	chr19:36728290-36728291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36721445..36724084-chr19:36726404..36728465,2	K562	blood:
2	chr19:36727989..36729931-chr19:37016866..37019433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228629	Chromatin interaction
ENSG00000254004	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10403738	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407835	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407850	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409983	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412832	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415410	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416509	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416742	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416925	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10419269	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425166	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882933	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12459704	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12460466	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461077	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461112	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461855	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12463157	0.85[AMR][1000 genomes]
rs28414272	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528757	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4361039	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806284	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4806294	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806295	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806303	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs55697131	0.82[AMR][1000 genomes]
rs56206115	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56316708	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56686317	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57385903	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57734651	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59026641	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59295196	0.96[ASN][1000 genomes]
rs61413061	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113093	0.87[EUR][1000 genomes]
rs62113146	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62113148	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62113149	0.85[AMR][1000 genomes]
rs62113151	0.83[AMR][1000 genomes]
rs62113152	0.85[AMR][1000 genomes]
rs7251745	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038028	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73040107	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73040113	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73040148	0.85[AMR][1000 genomes]
rs73041817	0.86[AMR][1000 genomes]
rs8106135	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111860	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4806293	ZNF545	Cis_1M	lymphoblastoid	RTeQTL
rs4806293	LINC00665	cis	Nerve Tibial	GTEx
rs4806293	LINC00665	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36707400-36730200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
5	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:36711200-36728400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr19:36713000-36730200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr19:36714000-36731000	Strong transcription	Dnd41	blood
9	chr19:36714400-36731400	ZNF genes & repeats	Liver	Liver
10	chr19:36715200-36731200	Strong transcription	Fetal Brain Female	brain
11	chr19:36715200-36731600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:36716200-36728600	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr19:36716400-36730000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:36716400-36730200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:36716600-36731400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr19:36716800-36730000	Strong transcription	Brain Germinal Matrix	brain
17	chr19:36716800-36730000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:36717000-36728600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:36717000-36728800	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:36717000-36730200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:36718400-36729000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr19:36718400-36729000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr19:36718400-36731800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:36719000-36728800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr19:36719200-36728400	ZNF genes & repeats	Thymus	Thymus
26	chr19:36719200-36730000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr19:36719200-36730800	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr19:36719400-36728400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:36719400-36729800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:36719400-36731400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:36719400-36731600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr19:36719800-36728400	Strong transcription	Brain Anterior Caudate	brain
33	chr19:36719800-36728400	ZNF genes & repeats	Small Intestine	intestine
34	chr19:36721000-36728800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr19:36721000-36735800	Weak transcription	Right Atrium	heart
36	chr19:36721400-36728800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
37	chr19:36722600-36728600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr19:36722800-36728600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:36723200-36728400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:36723200-36729800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:36723600-36728600	Strong transcription	HepG2	liver
42	chr19:36723600-36730600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr19:36723600-36730600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:36723800-36728600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr19:36723800-36728600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:36723800-36728600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr19:36723800-36729200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr19:36724000-36728400	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr19:36724000-36730600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:36724000-36730600	Strong transcription	Brain Angular Gyrus	brain

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