Variant report

Variant	rs531019
Chromosome Location	chr15:73598607-73598608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73598014..73598904-chr15:73928513..73929048,2	K562	blood:
2	chr15:73598029..73598944-chr15:73992348..73993218,4	K562	blood:
3	chr15:73598023..73598791-chr15:73831624..73832277,2	MCF-7	breast:
4	chr15:73598394..73598898-chr15:73823428..73824292,2	K562	blood:
5	chr15:73597949..73598920-chr15:73928445..73929381,7	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1017808	0.80[JPT][hapmap]
rs10438294	0.83[MEX][hapmap];0.83[TSI][hapmap]
rs11072405	0.85[JPT][hapmap]
rs11072411	0.85[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap]
rs1119251	0.85[JPT][hapmap]
rs11634045	0.85[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap]
rs11636981	0.95[JPT][hapmap]
rs11856537	0.82[CHD][hapmap];0.84[GIH][hapmap]
rs12442755	0.81[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap]
rs12594776	0.90[JPT][hapmap]
rs12901272	0.85[JPT][hapmap]
rs1382782	0.90[JPT][hapmap]
rs1564347	0.81[JPT][hapmap]
rs1585766	0.85[JPT][hapmap]
rs16957683	0.80[JPT][hapmap]
rs1871385	0.83[MEX][hapmap];0.83[TSI][hapmap]
rs1878940	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2252725	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292915	0.81[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap]
rs2415145	0.85[JPT][hapmap]
rs2660821	0.87[CEU][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2680338	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2680340	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2680341	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34456824	0.80[AMR][1000 genomes]
rs3736510	0.83[MEX][hapmap];0.83[TSI][hapmap]
rs3743496	0.85[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap]
rs3784795	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs3859014	0.81[CHB][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes]
rs3859015	0.80[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap]
rs472681	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4777592	0.85[JPT][hapmap]
rs486267	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs489531	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs559260	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs563076	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs564765	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs576813	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62015498	0.80[AMR][1000 genomes]
rs6495057	0.85[CHD][hapmap];0.84[GIH][hapmap]
rs7177758	0.80[JPT][hapmap]
rs747873	0.81[TSI][hapmap]
rs8039418	0.85[JPT][hapmap]

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	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73536200-73602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:73568600-73600800	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr15:73571200-73601400	Strong transcription	Fetal Stomach	stomach
4	chr15:73585000-73599400	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:73585400-73599600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr15:73586800-73601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:73588800-73601400	Strong transcription	Fetal Intestine Large	intestine
8	chr15:73588800-73601800	Strong transcription	Fetal Intestine Small	intestine
9	chr15:73593200-73601800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:73593200-73602000	Strong transcription	Aorta	Aorta
11	chr15:73595400-73600000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:73595400-73603800	Weak transcription	Spleen	Spleen
13	chr15:73595600-73601600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:73595600-73610200	Weak transcription	Fetal Brain Male	brain
15	chr15:73596200-73599800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:73596400-73599000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:73596400-73611000	Weak transcription	Brain Anterior Caudate	brain
18	chr15:73596600-73598800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr15:73596600-73599200	Weak transcription	Pancreas	Pancrea
20	chr15:73596600-73610000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:73596600-73610200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:73596800-73602200	Weak transcription	Lung	lung
23	chr15:73596800-73609600	Weak transcription	Fetal Lung	lung
24	chr15:73596800-73616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr15:73597000-73599200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:73597000-73599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:73597000-73599600	Weak transcription	Fetal Brain Female	brain
28	chr15:73597000-73600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:73597000-73600000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:73597000-73601000	Weak transcription	Fetal Kidney	kidney
31	chr15:73597000-73601000	Weak transcription	Ovary	ovary
32	chr15:73597000-73606000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:73597000-73609600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:73597000-73610000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:73597200-73599200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:73597200-73599400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:73597200-73602200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:73597200-73603600	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:73597400-73603200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:73597600-73598800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:73597600-73598800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:73598000-73598800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:73598000-73598800	Enhancers	Brain Hippocampus Middle	brain
44	chr15:73598000-73598800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:73598000-73598800	Enhancers	Brain Substantia Nigra	brain
46	chr15:73598000-73598800	Enhancers	Fetal Heart	heart
47	chr15:73598000-73598800	Enhancers	NHEK	skin
48	chr15:73598000-73610400	Weak transcription	Brain Germinal Matrix	brain
49	chr15:73598200-73598800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr15:73598200-73598800	Enhancers	H1 Cell Line	embryonic stem cell

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