Variant report

Variant	rs61413061
Chromosome Location	chr19:36721990-36721991
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	chr19:36713025..36717797-chr19:36719610..36723880,4	K562	blood:
2	chr19:36721445..36724084-chr19:36726404..36728465,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10403738	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10407835	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412832	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416925	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10419269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425166	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882933	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12459704	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12460466	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461077	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461855	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28414272	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528757	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4361039	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4806284	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4806293	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806294	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4806295	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56206115	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56316708	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56686317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57385903	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57734651	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59026641	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59295196	0.96[ASN][1000 genomes]
rs62113093	0.86[EUR][1000 genomes]
rs62113146	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62113148	0.83[ASN][1000 genomes]
rs7251745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038028	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73040107	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73040113	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8106135	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111860	0.88[AMR][1000 genomes];0.90[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
rs61413061	ZNF545	Cis_1M	lymphoblastoid	RTeQTL
rs61413061	LINC00665	cis	Muscle Skeletal	GTEx
rs61413061	CTD-3162L10.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36707000-36726800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36707400-36730200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36709000-36723000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:36709000-36723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:36709000-36724000	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr19:36709400-36723800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:36710000-36725000	ZNF genes & repeats	GM12878-XiMat	blood
10	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
11	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:36710800-36723200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:36711000-36723200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:36711000-36723400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:36711000-36724000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:36711200-36728400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr19:36711800-36725000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:36711800-36726600	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:36713000-36730200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr19:36713400-36726600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr19:36714000-36731000	Strong transcription	Dnd41	blood
22	chr19:36714400-36731400	ZNF genes & repeats	Liver	Liver
23	chr19:36715200-36723600	Strong transcription	Placenta	Placenta
24	chr19:36715200-36731200	Strong transcription	Fetal Brain Female	brain
25	chr19:36715200-36731600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:36715400-36724200	Strong transcription	Hela-S3	cervix
27	chr19:36715800-36726800	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr19:36716000-36724400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:36716200-36722000	Strong transcription	HepG2	liver
30	chr19:36716200-36723600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:36716200-36728600	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr19:36716400-36723400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr19:36716400-36723600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:36716400-36726600	Weak transcription	Fetal Heart	heart
35	chr19:36716400-36730000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:36716400-36730200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:36716600-36722200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:36716600-36724600	Strong transcription	Fetal Lung	lung
39	chr19:36716600-36725600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr19:36716600-36727200	Strong transcription	Adipose Nuclei	Adipose
41	chr19:36716600-36728200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:36716600-36728200	ZNF genes & repeats	Lung	lung
43	chr19:36716600-36731400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr19:36716800-36722800	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr19:36716800-36725400	Strong transcription	Pancreas	Pancrea
46	chr19:36716800-36728000	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr19:36716800-36730000	Strong transcription	Brain Germinal Matrix	brain
48	chr19:36716800-36730000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr19:36717000-36723200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:36717000-36723800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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