Variant report

Variant	rs2438516
Chromosome Location	chr19:36715206-36715207
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36711072..36713184-chr19:36713372..36715798,2	K562	blood:
2	chr19:36704753..36706948-chr19:36714660..36716433,3	K562	blood:
3	chr19:36713025..36717797-chr19:36719610..36723880,4	K562	blood:

Variant related genes	Relation type
ENSG00000196357	Chromatin interaction
ENSG00000167635	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10416729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11673662	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12460237	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608941	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1898675	0.89[ASN][1000 genomes]
rs2432040	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2432044	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2432046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2432048	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2432050	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2432053	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2438515	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2910681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2918322	0.92[ASN][1000 genomes]
rs2918323	0.83[ASN][1000 genomes]
rs2918324	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2918325	0.84[ASN][1000 genomes]
rs2918376	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2918377	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2918381	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2918383	0.89[ASN][1000 genomes]
rs2918384	0.92[ASN][1000 genomes]
rs2972320	0.92[ASN][1000 genomes]
rs2972528	0.94[EUR][1000 genomes]
rs2972530	0.80[ASN][1000 genomes]
rs2972532	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2972533	0.92[ASN][1000 genomes]
rs2972534	0.91[ASN][1000 genomes]
rs2972535	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2972536	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2972540	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2972543	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34912665	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4293497	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4315447	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57614488	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60277419	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6510528	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8107260	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8107616	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2438516	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36706800-36716400	Weak transcription	Aorta	Aorta
2	chr19:36707000-36716200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:36707000-36726800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36707400-36730200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36707600-36731800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:36707800-36716400	Weak transcription	Right Ventricle	heart
7	chr19:36707800-36717000	Weak transcription	HSMMtube	muscle
8	chr19:36708000-36716400	Weak transcription	Psoas Muscle	Psoas
9	chr19:36708000-36716800	Weak transcription	Pancreas	Pancrea
10	chr19:36708000-36719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:36708400-36715400	Weak transcription	Fetal Heart	heart
13	chr19:36708400-36716400	Weak transcription	Spleen	Spleen
14	chr19:36709000-36715400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:36709000-36723000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:36709000-36723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:36709000-36724000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr19:36709200-36716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:36709200-36716000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:36709400-36723800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr19:36710000-36716000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:36710000-36725000	ZNF genes & repeats	GM12878-XiMat	blood
23	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
24	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:36710200-36720600	Strong transcription	Fetal Thymus	thymus
26	chr19:36710400-36715400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:36710800-36719000	Weak transcription	Fetal Brain Male	brain
28	chr19:36710800-36719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:36710800-36721800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr19:36710800-36723200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:36711000-36723200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:36711000-36723400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:36711000-36724000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:36711200-36716400	Weak transcription	Esophagus	oesophagus
35	chr19:36711200-36728400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr19:36711600-36719400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:36711800-36719400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:36711800-36725000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:36711800-36726600	Strong transcription	Fetal Muscle Leg	muscle
40	chr19:36712000-36715800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr19:36712800-36715400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:36713000-36730200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr19:36713200-36715600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:36713200-36715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:36713200-36717000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:36713200-36719000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:36713400-36715400	Weak transcription	K562	blood
48	chr19:36713400-36716400	Weak transcription	Small Intestine	intestine
49	chr19:36713400-36726600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr19:36713600-36715400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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