Variant report

Variant	rs7257026
Chromosome Location	chr19:36529306-36529307
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36487172..36489365-chr19:36529262..36531412,2	MCF-7	breast:
2	chr19:36518180..36521030-chr19:36528618..36530229,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1009381	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10406862	0.90[ASN][1000 genomes]
rs10418079	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10420345	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421377	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10422055	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11538454	0.81[ASN][1000 genomes]
rs11669890	0.80[ASN][1000 genomes]
rs12608517	0.81[ASN][1000 genomes]
rs12981698	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2023866	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074435	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2227260	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2231568	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2871649	0.81[ASN][1000 genomes]
rs4806249	0.88[ASN][1000 genomes]
rs4806262	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4806273	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55849299	0.83[ASN][1000 genomes]
rs7251912	0.90[ASN][1000 genomes]
rs7258807	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7257026	POLR2I///RPSA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36506400-36544400	Weak transcription	GM12878-XiMat	blood
2	chr19:36506800-36532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:36507000-36532200	Weak transcription	Hela-S3	cervix
4	chr19:36508800-36532400	Weak transcription	NHEK	skin
5	chr19:36515400-36544600	Weak transcription	Pancreas	Pancrea
6	chr19:36516400-36532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:36518800-36532200	Weak transcription	A549	lung
8	chr19:36524000-36529400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr19:36524000-36532000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:36524000-36532000	Weak transcription	Psoas Muscle	Psoas
11	chr19:36524000-36537000	Weak transcription	Small Intestine	intestine
12	chr19:36524200-36529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:36524200-36530000	Weak transcription	Fetal Intestine Large	intestine
14	chr19:36524200-36530000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:36524200-36530200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:36524200-36530200	Weak transcription	Ovary	ovary
17	chr19:36524200-36530400	Weak transcription	Colonic Mucosa	Colon
18	chr19:36524200-36531600	Weak transcription	Placenta	Placenta
19	chr19:36524200-36532000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:36524200-36532200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:36524200-36532200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:36524200-36532200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:36524200-36532200	Weak transcription	NHLF	lung
24	chr19:36524200-36532400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:36524200-36532400	Weak transcription	HSMMtube	muscle
26	chr19:36524200-36533200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:36524200-36543800	Weak transcription	Left Ventricle	heart
28	chr19:36524200-36544000	Weak transcription	Primary B cells from cord blood	blood
29	chr19:36524200-36544400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:36524200-36544400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:36524200-36544400	Weak transcription	Aorta	Aorta
32	chr19:36524400-36529800	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:36524400-36532200	Weak transcription	Fetal Kidney	kidney
34	chr19:36524400-36532200	Weak transcription	NHDF-Ad	bronchial
35	chr19:36524400-36532400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:36524400-36532400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:36524400-36532400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:36524400-36532400	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:36524400-36532400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:36524400-36533000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:36524400-36534800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:36524400-36535000	Weak transcription	Brain Angular Gyrus	brain
43	chr19:36524400-36537200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:36524400-36537200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:36524400-36543800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr19:36524400-36544000	Weak transcription	Fetal Lung	lung
47	chr19:36524600-36530200	Weak transcription	Brain Substantia Nigra	brain
48	chr19:36524600-36532600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:36524600-36537000	Weak transcription	Brain Anterior Caudate	brain
50	chr19:36524800-36530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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