Variant report

Variant	rs12462432
Chromosome Location	chr19:36560887-36560888
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	PAX5	chr19:36560493-36560924	GM12878	blood:	n/a	n/a
2	PAX5	chr19:36560428-36560929	GM12878	blood:	n/a	n/a
3	PAX5	chr19:36560503-36560900	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:36560709-36560955	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36559947..36561874-chr19:36564837..36567073,2	K562	blood:
2	chr19:36560163..36561818-chr19:36605064..36607311,2	MCF-7	breast:

Variant related genes	Relation type
WDR62	TF binding region
ENSG00000105254	Chromatin interaction
ENSG00000105258	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10407011	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10414877	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10420353	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10421966	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10423651	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10425692	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12462632	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12462674	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12972490	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12976505	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12976812	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12977814	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12978482	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12981654	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17639286	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2023865	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2239510	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35125548	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35875194	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3826995	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4461192	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56034793	0.88[ASN][1000 genomes]
rs62109743	0.88[ASN][1000 genomes]
rs71337524	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs721542	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7245762	0.92[ASN][1000 genomes]
rs7257383	0.92[ASN][1000 genomes]
rs7259592	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7260609	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8103569	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546400-36577600	Weak transcription	Esophagus	oesophagus
2	chr19:36546400-36584000	Weak transcription	Right Atrium	heart
3	chr19:36546600-36572400	Weak transcription	Lung	lung
4	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
5	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:36546800-36572000	Weak transcription	Primary T cells from cord blood	blood
7	chr19:36546800-36572800	Weak transcription	Primary B cells from cord blood	blood
8	chr19:36546800-36572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:36546800-36580200	Weak transcription	Fetal Kidney	kidney
10	chr19:36546800-36588000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr19:36546800-36592200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:36547000-36561200	Weak transcription	NH-A	brain
14	chr19:36547400-36561200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr19:36547400-36562000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:36547600-36584200	Weak transcription	Fetal Heart	heart
17	chr19:36548200-36596400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr19:36548400-36571000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:36548800-36567800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:36549600-36566600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:36549600-36567200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:36552000-36561600	Weak transcription	Brain Angular Gyrus	brain
23	chr19:36552000-36572400	Weak transcription	Liver	Liver
24	chr19:36555000-36593000	Weak transcription	Fetal Lung	lung
25	chr19:36556000-36601600	Weak transcription	Pancreas	Pancrea
26	chr19:36556600-36562200	Weak transcription	HSMM	muscle
27	chr19:36557200-36561200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:36558000-36562400	Weak transcription	Left Ventricle	heart
29	chr19:36558000-36562400	Weak transcription	Right Ventricle	heart
30	chr19:36558200-36561200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:36558200-36572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:36558800-36561200	Weak transcription	Osteobl	bone
33	chr19:36558800-36574000	Weak transcription	Gastric	stomach
34	chr19:36559000-36562200	Weak transcription	HepG2	liver
35	chr19:36559000-36562800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:36559000-36572400	Weak transcription	Placenta	Placenta
37	chr19:36559200-36561000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:36559200-36561200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36559200-36561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:36559200-36561200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:36559200-36561200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:36559200-36561200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr19:36559200-36561200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:36559200-36561200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:36559200-36561200	Weak transcription	Thymus	Thymus
46	chr19:36559200-36561200	Weak transcription	A549	lung
47	chr19:36559200-36561200	Weak transcription	HMEC	breast
48	chr19:36559200-36561200	Weak transcription	K562	blood
49	chr19:36559200-36561200	Weak transcription	NHDF-Ad	bronchial
50	chr19:36559200-36561200	Weak transcription	NHEK	skin

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