Variant report

Variant	rs4806294
Chromosome Location	chr19:36731348-36731349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36729380..36732375-chr19:36732759..36734481,3	MCF-7	breast:
2	chr19:36729552..36731662-chr19:36736640..36739209,2	K562	blood:
3	chr19:36729000..36731636-chr19:36732341..36735804,4	K562	blood:
4	chr19:36730136..36732594-chr19:36734296..36737243,2	K562	blood:

Variant related genes	Relation type
ENSG00000196357	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10403738	0.91[JPT][hapmap];0.80[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10407835	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10407850	0.91[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409983	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10412832	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10415410	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10416509	0.91[JPT][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10416742	0.91[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10416925	0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10419269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10425166	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11882933	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12459704	0.91[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12460466	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12461077	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12461112	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12461855	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17206379	0.84[CHB][hapmap]
rs28414272	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28528757	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4361039	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4806284	0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4806293	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806295	0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697131	0.81[AMR][1000 genomes]
rs56206115	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56316708	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56686317	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57385903	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57734651	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59026641	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59295196	0.94[ASN][1000 genomes]
rs61413061	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62113093	0.86[EUR][1000 genomes]
rs62113146	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62113148	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7251745	0.91[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73038028	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73040107	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73040113	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8106135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111860	0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4806294	LINC00665	cis	Muscle Skeletal	GTEx
rs4806294	ZNF545	Cis_1M	lymphoblastoid	RTeQTL
rs4806294	CTD-3162L10.1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
3	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:36714400-36731400	ZNF genes & repeats	Liver	Liver
5	chr19:36715200-36731600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr19:36716600-36731400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:36718400-36731800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:36719400-36731400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:36719400-36731600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
10	chr19:36721000-36735800	Weak transcription	Right Atrium	heart
11	chr19:36724400-36735800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:36724800-36731400	Strong transcription	Placenta	Placenta
13	chr19:36726600-36731400	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr19:36728200-36731400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:36728200-36732000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:36728200-36735800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:36728200-36735800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:36728200-36736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:36728400-36735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr19:36728400-36735800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:36728400-36735800	Weak transcription	Brain Anterior Caudate	brain
22	chr19:36728400-36735800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:36728400-36735800	Weak transcription	Brain Substantia Nigra	brain
24	chr19:36728400-36736200	Weak transcription	Gastric	stomach
25	chr19:36728600-36735800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:36728600-36735800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:36728600-36735800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:36728600-36735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:36728600-36736000	Weak transcription	Left Ventricle	heart
30	chr19:36728600-36736000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:36728800-36731400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:36728800-36731400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:36728800-36735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:36728800-36735800	Weak transcription	NHLF	lung
35	chr19:36729000-36734800	Weak transcription	NHEK	skin
36	chr19:36729000-36735800	Weak transcription	Fetal Heart	heart
37	chr19:36729200-36731400	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr19:36729200-36735800	Weak transcription	Fetal Brain Male	brain
39	chr19:36729200-36735800	Weak transcription	Fetal Kidney	kidney
40	chr19:36729400-36731400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:36729400-36734200	Weak transcription	NHDF-Ad	bronchial
42	chr19:36729400-36735800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr19:36729400-36735800	Weak transcription	HMEC	breast
44	chr19:36729400-36735800	Weak transcription	Osteobl	bone
45	chr19:36729400-36736000	Weak transcription	Brain Hippocampus Middle	brain
46	chr19:36729600-36731400	ZNF genes & repeats	Fetal Stomach	stomach
47	chr19:36729600-36732000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:36729600-36735800	Weak transcription	Fetal Lung	lung
49	chr19:36729800-36731400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr19:36729800-36732000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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