Variant report

Variant	rs8023619
Chromosome Location	chr15:41583371-41583372
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41575888..41578316-chr15:41582979..41585104,2	MCF-7	breast:
2	chr15:41581933..41584889-chr15:41587370..41590303,3	K562	blood:
3	chr15:41581131..41583433-chr15:41618949..41620567,2	K562	blood:

Variant related genes	Relation type
ENSG00000247556	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10152497	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10152702	0.87[ASN][1000 genomes]
rs10153010	0.89[ASN][1000 genomes]
rs10467974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10518718	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11549913	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11633799	0.90[ASN][1000 genomes]
rs11852609	0.88[ASN][1000 genomes]
rs11857631	0.83[ASN][1000 genomes]
rs12324291	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16952331	0.80[EUR][1000 genomes]
rs16971767	0.92[ASN][1000 genomes]
rs16971798	0.88[ASN][1000 genomes]
rs16971806	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16971832	0.80[EUR][1000 genomes]
rs16971834	0.82[EUR][1000 genomes]
rs2015781	0.91[ASN][1000 genomes]
rs2412610	0.82[EUR][1000 genomes]
rs28393472	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28526381	0.92[ASN][1000 genomes]
rs28578057	0.92[ASN][1000 genomes]
rs28583065	0.92[ASN][1000 genomes]
rs28600680	0.85[ASN][1000 genomes]
rs28643296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28655070	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28716108	0.87[ASN][1000 genomes]
rs28792672	0.83[ASN][1000 genomes]
rs28847691	0.82[EUR][1000 genomes]
rs2899014	0.82[EUR][1000 genomes]
rs35826725	0.83[ASN][1000 genomes]
rs3743038	0.85[ASN][1000 genomes]
rs55782852	0.92[ASN][1000 genomes]
rs58335029	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58910172	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59590312	0.83[ASN][1000 genomes]
rs61037359	0.93[ASN][1000 genomes]
rs61127691	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6650519	0.92[ASN][1000 genomes]
rs66538814	0.85[ASN][1000 genomes]
rs7161772	0.92[ASN][1000 genomes]
rs7163649	0.93[ASN][1000 genomes]
rs7163788	0.81[ASN][1000 genomes]
rs7165675	0.92[ASN][1000 genomes]
rs7167498	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7167729	0.81[ASN][1000 genomes]
rs7172148	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7175690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7176314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7176505	0.92[ASN][1000 genomes]
rs7176588	0.93[ASN][1000 genomes]
rs7181560	0.86[ASN][1000 genomes]
rs7181911	0.85[ASN][1000 genomes]
rs7182667	0.87[ASN][1000 genomes]
rs7183337	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73404980	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73404987	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73404994	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73404995	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73404996	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73405000	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73405001	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73407109	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8026197	0.81[ASN][1000 genomes]
rs8027626	0.81[ASN][1000 genomes]
rs8032838	0.92[ASN][1000 genomes]
rs8034626	0.90[ASN][1000 genomes]
rs8034819	0.83[ASN][1000 genomes]
rs8036498	0.92[ASN][1000 genomes]
rs919961	0.88[ASN][1000 genomes]
rs9302109	0.92[ASN][1000 genomes]
rs9672866	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9972288	0.83[ASN][1000 genomes]
rs9972547	1.00[EUR][1000 genomes];0.91[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	nsv1045455	chr15:41536624-41620534	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41577400-41584600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41577400-41610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41577600-41606400	Weak transcription	Stomach Mucosa	stomach
4	chr15:41577800-41583600	Weak transcription	Aorta	Aorta
5	chr15:41577800-41583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:41577800-41589000	Weak transcription	Esophagus	oesophagus
7	chr15:41577800-41591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:41578000-41584000	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr15:41578000-41584000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:41578000-41584600	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr15:41578000-41584600	Strong transcription	Fetal Intestine Large	intestine
12	chr15:41578000-41588400	Weak transcription	Right Atrium	heart
13	chr15:41578000-41591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:41578200-41591800	Strong transcription	Fetal Stomach	stomach
15	chr15:41578200-41592600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:41578400-41592600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:41578800-41584400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:41578800-41587800	Strong transcription	Fetal Muscle Leg	muscle
19	chr15:41578800-41591800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:41579200-41584800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:41579200-41584800	Strong transcription	K562	blood
22	chr15:41579200-41593200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:41579200-41612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:41580000-41592600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:41580600-41584800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr15:41580600-41603200	Weak transcription	Psoas Muscle	Psoas
27	chr15:41580800-41584000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:41581000-41586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:41581000-41588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:41581000-41590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:41581000-41593200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:41581200-41583400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:41581200-41583400	Weak transcription	Right Ventricle	heart
34	chr15:41581200-41583400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:41581200-41584200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:41581200-41584200	Strong transcription	Fetal Brain Female	brain
37	chr15:41581200-41584600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:41581200-41585000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:41581200-41585000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:41581200-41585000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:41581200-41586400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:41581200-41586600	Weak transcription	Lung	lung
43	chr15:41581200-41586800	Weak transcription	Fetal Heart	heart
44	chr15:41581200-41586800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:41581200-41587000	Weak transcription	Brain Germinal Matrix	brain
46	chr15:41581200-41587600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:41581200-41588200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:41581200-41589000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:41581200-41589000	Weak transcription	Ovary	ovary
50	chr15:41581200-41589000	Weak transcription	Spleen	Spleen

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