Variant report

Variant	rs12050848
Chromosome Location	chr15:73538245-73538246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73530199..73532028-chr15:73536328..73538305,2	MCF-7	breast:
2	chr15:73537335..73540312-chr15:73984366..73986218,2	K562	blood:
3	chr15:73529028..73531233-chr15:73536752..73538300,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10048053	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438294	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10467949	0.84[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11072406	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11072409	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1131854	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11632639	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11633469	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11636241	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11639213	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12050774	0.82[JPT][hapmap]
rs12708506	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899246	0.83[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs12902768	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12907139	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12916928	0.81[EUR][1000 genomes]
rs1479337	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1479340	0.88[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1564345	0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs17762516	0.87[ASN][1000 genomes]
rs17762600	0.82[JPT][hapmap]
rs17829830	0.82[JPT][hapmap]
rs17829836	0.89[ASN][1000 genomes]
rs17829957	0.82[JPT][hapmap]
rs1871385	0.91[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2010793	0.83[ASN][1000 genomes]
rs2046017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2127277	0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2194924	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2251205	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2415147	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2660821	0.82[CEU][hapmap]
rs2899784	0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs34013312	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35450875	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3736510	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3743489	0.91[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3784793	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784796	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4132535	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs4381562	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4776630	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777582	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs4777583	0.80[EUR][1000 genomes]
rs4777589	0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4777591	0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs486267	0.84[CEU][hapmap]
rs56157337	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs576813	0.84[CEU][hapmap]
rs58060856	0.87[ASN][1000 genomes]
rs62017779	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495047	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs7164894	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs7169083	0.83[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7172021	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7172396	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7175329	0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs747872	0.92[CEU][hapmap];0.89[CHB][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs747873	0.87[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8024575	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8026579	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs8027588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8029106	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8035063	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8035925	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8040516	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8042700	0.92[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs922516	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs9672588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9806496	0.90[ASN][1000 genomes]
rs9920186	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs9972523	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[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	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73497800-73541800	Weak transcription	Fetal Kidney	kidney
2	chr15:73518200-73540800	Weak transcription	Colonic Mucosa	Colon
3	chr15:73518800-73546200	Weak transcription	Psoas Muscle	Psoas
4	chr15:73518800-73547800	Weak transcription	Left Ventricle	heart
5	chr15:73520400-73562400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:73520600-73579600	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:73523000-73572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:73523200-73547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:73524200-73546200	Weak transcription	Esophagus	oesophagus
10	chr15:73524200-73547000	Weak transcription	Ovary	ovary
11	chr15:73524400-73542200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:73524800-73538400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:73525000-73548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:73525200-73546200	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:73525200-73547000	Weak transcription	Pancreas	Pancrea
16	chr15:73525600-73547800	Weak transcription	Gastric	stomach
17	chr15:73526600-73541400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:73527000-73547000	Weak transcription	Brain Angular Gyrus	brain
19	chr15:73527000-73579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:73527400-73542000	Weak transcription	Brain Germinal Matrix	brain
21	chr15:73527400-73551600	Weak transcription	Small Intestine	intestine
22	chr15:73527600-73538400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:73527600-73562400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:73528800-73547000	Weak transcription	Lung	lung
25	chr15:73529000-73538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:73529000-73552600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:73529400-73547000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:73529600-73546000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:73529800-73538400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:73529800-73542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:73530600-73541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:73530800-73541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:73530800-73546000	Weak transcription	Liver	Liver
34	chr15:73530800-73551200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:73531400-73547600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:73531600-73547600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:73531800-73539400	Weak transcription	Fetal Stomach	stomach
38	chr15:73532000-73538800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:73532400-73538400	Weak transcription	Brain Hippocampus Middle	brain
40	chr15:73532400-73539000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:73532400-73541400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:73532400-73547600	Weak transcription	Fetal Brain Male	brain
43	chr15:73532600-73538600	Weak transcription	Brain Substantia Nigra	brain
44	chr15:73535000-73538800	Weak transcription	Aorta	Aorta
45	chr15:73535200-73588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:73535800-73543000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:73536000-73550800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:73536200-73544400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:73536200-73602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:73536400-73539200	Strong transcription	Brain Anterior Caudate	brain

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