Variant report

Variant	rs73402803
Chromosome Location	chr15:52391643-52391644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52389305..52392233-chr15:52393391..52396021,3	K562	blood:
2	chr15:52309194..52314432-chr15:52385325..52393461,10	MCF-7	breast:
3	chr15:52389305..52392233-chr15:52393391..52397295,3	K562	blood:

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10400852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16953085	1.00[EUR][1000 genomes]
rs16964735	1.00[EUR][1000 genomes]
rs16964737	1.00[EUR][1000 genomes]
rs16964750	1.00[EUR][1000 genomes]
rs16964770	1.00[EUR][1000 genomes]
rs2231296	1.00[EUR][1000 genomes]
rs28656256	1.00[EUR][1000 genomes]
rs28663157	1.00[EUR][1000 genomes]
rs41494446	1.00[EUR][1000 genomes]
rs59195841	1.00[EUR][1000 genomes]
rs59289747	1.00[EUR][1000 genomes]
rs60397096	1.00[EUR][1000 genomes]
rs7163133	1.00[EUR][1000 genomes]
rs7164357	1.00[EUR][1000 genomes]
rs7165157	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165527	1.00[EUR][1000 genomes]
rs7165708	1.00[EUR][1000 genomes]
rs7167133	1.00[EUR][1000 genomes]
rs7171700	1.00[EUR][1000 genomes]
rs7172939	1.00[EUR][1000 genomes]
rs7178038	1.00[EUR][1000 genomes]
rs730945	1.00[EUR][1000 genomes]
rs73402824	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402826	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402833	1.00[EUR][1000 genomes]
rs73402839	1.00[EUR][1000 genomes]
rs73402853	1.00[EUR][1000 genomes]
rs73402859	1.00[EUR][1000 genomes]
rs73402869	1.00[EUR][1000 genomes]
rs73402879	1.00[EUR][1000 genomes]
rs73404813	1.00[EUR][1000 genomes]
rs8023921	1.00[EUR][1000 genomes]
rs8024311	1.00[EUR][1000 genomes]
rs8024767	1.00[EUR][1000 genomes]
rs8035146	1.00[EUR][1000 genomes]
rs8040458	1.00[EUR][1000 genomes]
rs8041042	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8041128	1.00[EUR][1000 genomes]
rs8041233	1.00[EUR][1000 genomes]
rs8041355	1.00[EUR][1000 genomes]
rs8041504	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52385800-52395400	Weak transcription	Fetal Kidney	kidney
2	chr15:52386200-52399000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:52386600-52393000	Weak transcription	Right Atrium	heart
4	chr15:52386800-52392600	Weak transcription	Placenta	Placenta
5	chr15:52387600-52392200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:52387600-52392600	Weak transcription	NH-A	brain
7	chr15:52387600-52395200	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:52387600-52395400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:52387600-52395400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:52387600-52396600	Weak transcription	Spleen	Spleen
11	chr15:52387600-52396800	Weak transcription	Esophagus	oesophagus
12	chr15:52387800-52391800	Enhancers	Hela-S3	cervix
13	chr15:52387800-52392400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:52387800-52392400	Weak transcription	NHLF	lung
15	chr15:52387800-52392600	Weak transcription	Ovary	ovary
16	chr15:52387800-52393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:52387800-52393000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:52387800-52393000	Weak transcription	Small Intestine	intestine
19	chr15:52387800-52393000	Weak transcription	HSMMtube	muscle
20	chr15:52388000-52393200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:52388200-52392600	Weak transcription	K562	blood
22	chr15:52388400-52392600	Weak transcription	HMEC	breast
23	chr15:52388600-52392400	Weak transcription	NHDF-Ad	bronchial
24	chr15:52388600-52392600	Weak transcription	NHEK	skin
25	chr15:52388600-52392600	Weak transcription	Osteobl	bone
26	chr15:52389600-52393000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:52389800-52391800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:52389800-52391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:52389800-52392200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:52389800-52392400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:52389800-52392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:52389800-52392600	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:52389800-52392800	Weak transcription	Adipose Nuclei	Adipose
34	chr15:52389800-52392800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:52389800-52393000	Weak transcription	HSMM	muscle
36	chr15:52390200-52392800	Weak transcription	HUVEC	blood vessel
37	chr15:52390400-52391800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:52390400-52392400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:52390600-52392600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:52391000-52392400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr15:52391000-52392400	Weak transcription	HepG2	liver
42	chr15:52391000-52392600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:52391000-52393000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:52391200-52392400	Weak transcription	Fetal Intestine Large	intestine
45	chr15:52391200-52392400	Weak transcription	A549	lung
46	chr15:52391200-52392400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr15:52391200-52392600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:52391400-52391800	Active TSS	GM12878-XiMat	blood
49	chr15:52391600-52392200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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