Variant report

Variant	rs1725482
Chromosome Location	chr19:38461229-38461230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38455932..38458635-chr19:38458979..38461344,2	MCF-7	breast:
2	chr19:38459331..38461760-chr19:38470604..38472306,2	MCF-7	breast:
3	chr19:38421858..38424190-chr19:38460757..38462357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10404567	1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs10415548	0.88[CEU][hapmap]
rs10420746	1.00[CEU][hapmap]
rs1119229	0.88[CEU][hapmap]
rs1643462	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1643463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1643466	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1643467	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1643468	1.00[CEU][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1643469	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1725469	0.80[EUR][1000 genomes]
rs1725477	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1725478	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1725480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1725481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1725483	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1725485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1725487	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1725488	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1725494	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1725499	0.88[CEU][hapmap]
rs2075281	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs2544718	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35209753	0.83[EUR][1000 genomes]
rs353398	0.95[EUR][1000 genomes]
rs353399	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353400	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353402	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353403	0.93[EUR][1000 genomes]
rs353404	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353407	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs353410	0.88[CEU][hapmap]
rs353411	0.88[CEU][hapmap]
rs353414	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs353415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs353416	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353417	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353419	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs353420	0.95[EUR][1000 genomes]
rs353421	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs353423	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs353424	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs353425	0.95[EUR][1000 genomes]
rs353426	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs353427	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs353428	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs353429	0.88[EUR][1000 genomes]
rs353430	0.92[EUR][1000 genomes]
rs3786869	0.87[CEU][hapmap]
rs4239516	0.87[CEU][hapmap]
rs4803524	1.00[CEU][hapmap];0.80[JPT][hapmap];0.92[TSI][hapmap]
rs4803551	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs4803573	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs705491	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs705492	1.00[CEU][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes]
rs705493	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs705494	1.00[CEU][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs705495	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs705500	0.95[EUR][1000 genomes]
rs7250409	1.00[CEU][hapmap];0.98[GIH][hapmap];0.80[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs7258597	0.85[EUR][1000 genomes]
rs752878	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8102579	1.00[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.92[TSI][hapmap]
rs8107341	0.95[EUR][1000 genomes]
rs8110284	1.00[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs8113521	0.88[CEU][hapmap]
rs833895	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs833896	0.87[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs833897	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs833898	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs833914	0.80[CEU][hapmap];0.93[GIH][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs833926	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs9304572	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1725482	ZNF571	cis	multi-tissue	Pritchard
rs1725482	WDR87	cis	Thyroid	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38455200-38461400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:38457200-38470400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:38457600-38470200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:38457600-38470400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:38457600-38470400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:38457800-38461400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr19:38457800-38468200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:38457800-38468400	Weak transcription	NH-A	brain
9	chr19:38458200-38468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:38459000-38464800	ZNF genes & repeats	A549	lung
11	chr19:38459200-38463400	ZNF genes & repeats	GM12878-XiMat	blood
12	chr19:38459400-38463800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:38460200-38461400	Enhancers	NHEK	skin
14	chr19:38460200-38461600	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr19:38460200-38463800	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr19:38460400-38461400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:38460400-38461800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:38460400-38462200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr19:38460400-38463800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr19:38460600-38468200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:38460800-38461400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:38460800-38461600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:38460800-38461600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
24	chr19:38460800-38461800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:38460800-38462200	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr19:38460800-38462200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr19:38461000-38461400	ZNF genes & repeats	Ovary	ovary
28	chr19:38461000-38461400	ZNF genes & repeats	Dnd41	blood
29	chr19:38461000-38461600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:38461000-38461600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:38461000-38461600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:38461000-38461600	ZNF genes & repeats	Left Ventricle	heart
33	chr19:38461000-38461600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr19:38461000-38461600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr19:38461000-38461600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr19:38461000-38461600	ZNF genes & repeats	Spleen	Spleen
37	chr19:38461000-38461600	ZNF genes & repeats	Osteobl	bone
38	chr19:38461000-38461800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr19:38461000-38461800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:38461000-38461800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr19:38461000-38462000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:38461000-38462000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:38461000-38462000	ZNF genes & repeats	Aorta	Aorta
44	chr19:38461000-38462000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr19:38461000-38462600	ZNF genes & repeats	Fetal Stomach	stomach
46	chr19:38461000-38463800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr19:38461000-38468200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:38461200-38461400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:38461200-38461400	ZNF genes & repeats	Colonic Mucosa	Colon
50	chr19:38461200-38461400	ZNF genes & repeats	Thymus	Thymus

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