Variant report

Variant	rs2432052
Chromosome Location	chr19:36718386-36718387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36718329-36718703	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ZNF146	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10409091	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10411031	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10416179	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10416237	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10417892	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12973781	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070132	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287897	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2287898	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2310856	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2432039	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2432042	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2432043	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2432045	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2432049	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2432051	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2432054	0.90[LWK][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2438514	0.83[ASW][hapmap];0.93[LWK][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2438517	0.83[ASW][hapmap];0.93[LWK][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408024	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2918332	0.81[ASN][1000 genomes]
rs2918338	0.81[ASN][1000 genomes]
rs2918357	0.80[ASN][1000 genomes]
rs2918375	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918378	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2918379	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2918380	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972321	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972525	0.85[ASN][1000 genomes]
rs2972526	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2972537	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972539	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972542	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2972544	0.81[ASN][1000 genomes]
rs2972549	0.81[ASN][1000 genomes]
rs4239585	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4806283	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6510527	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7251727	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7253462	0.80[ASN][1000 genomes]
rs8102020	0.88[AMR][1000 genomes];0.92[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

No data

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	chr19:36708000-36719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:36708200-36730800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:36709000-36723000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:36709000-36723800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:36709000-36724000	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr19:36709400-36723800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr19:36710000-36725000	ZNF genes & repeats	GM12878-XiMat	blood
11	chr19:36710000-36732200	ZNF genes & repeats	A549	lung
12	chr19:36710000-36732200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:36710200-36720600	Strong transcription	Fetal Thymus	thymus
14	chr19:36710800-36719000	Weak transcription	Fetal Brain Male	brain
15	chr19:36710800-36719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:36710800-36721800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr19:36710800-36723200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:36711000-36723200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:36711000-36723400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:36711000-36724000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:36711200-36728400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr19:36711600-36719400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:36711800-36719400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:36711800-36725000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:36711800-36726600	Strong transcription	Fetal Muscle Leg	muscle
26	chr19:36713000-36730200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:36713200-36719000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:36713400-36726600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr19:36714000-36718400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:36714000-36719000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:36714000-36731000	Strong transcription	Dnd41	blood
32	chr19:36714400-36731400	ZNF genes & repeats	Liver	Liver
33	chr19:36715200-36723600	Strong transcription	Placenta	Placenta
34	chr19:36715200-36731200	Strong transcription	Fetal Brain Female	brain
35	chr19:36715200-36731600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr19:36715400-36721200	Strong transcription	K562	blood
37	chr19:36715400-36724200	Strong transcription	Hela-S3	cervix
38	chr19:36715800-36726800	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr19:36716000-36724400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:36716200-36719400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:36716200-36719400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:36716200-36722000	Strong transcription	HepG2	liver
43	chr19:36716200-36723600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:36716200-36728600	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr19:36716400-36718400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:36716400-36718400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr19:36716400-36718600	Weak transcription	HMEC	breast
48	chr19:36716400-36719200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr19:36716400-36719400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:36716400-36721400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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