Variant report

Variant	rs73407850
Chromosome Location	chr15:55488234-55488235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55484699..55490442-chr15:55579270..55584640,8	K562	blood:
2	chr15:55487401..55489256-chr15:55698750..55700399,2	MCF-7	breast:
3	chr15:55486571..55488270-chr15:55698193..55700233,2	K562	blood:
4	chr15:55486571..55489386-chr15:55698193..55701285,4	K562	blood:
5	chr15:55485508..55492313-chr15:55579801..55583590,12	K562	blood:
6	chr15:54266407..54270072-chr15:55486535..55491034,4	MCF-7	breast:
7	chr15:55485173..55489207-chr15:55609824..55611374,3	K562	blood:

Variant related genes	Relation type
ENSG00000069974	Chromatin interaction
ENSG00000259669	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000261652	Chromatin interaction
ENSG00000225973	Chromatin interaction
ENSG00000260916	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10047995	0.92[EUR][1000 genomes]
rs10152400	0.92[EUR][1000 genomes]
rs10518800	0.89[EUR][1000 genomes]
rs11852793	0.89[EUR][1000 genomes]
rs11855490	0.97[EUR][1000 genomes]
rs11858001	0.92[EUR][1000 genomes]
rs16976069	0.89[EUR][1000 genomes]
rs16976076	0.89[EUR][1000 genomes]
rs2414403	0.92[EUR][1000 genomes]
rs28565375	0.89[EUR][1000 genomes]
rs524935	0.89[EUR][1000 genomes]
rs58922764	0.92[EUR][1000 genomes]
rs59357544	0.89[EUR][1000 genomes]
rs59683414	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60802234	0.92[EUR][1000 genomes]
rs6493764	0.92[EUR][1000 genomes]
rs6493765	0.92[EUR][1000 genomes]
rs7163677	0.92[EUR][1000 genomes]
rs7168226	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7169357	0.92[EUR][1000 genomes]
rs73404044	0.81[EUR][1000 genomes]
rs73404055	0.81[EUR][1000 genomes]
rs73404072	0.89[EUR][1000 genomes]
rs73404076	0.89[EUR][1000 genomes]
rs73404078	0.89[EUR][1000 genomes]
rs73404093	0.89[EUR][1000 genomes]
rs73405810	0.92[EUR][1000 genomes]
rs73405811	0.92[EUR][1000 genomes]
rs73405825	0.92[EUR][1000 genomes]
rs73405883	0.92[EUR][1000 genomes]
rs73405887	0.92[EUR][1000 genomes]
rs73405889	0.92[EUR][1000 genomes]
rs73405890	0.92[EUR][1000 genomes]
rs73405894	0.89[EUR][1000 genomes]
rs73405895	0.89[EUR][1000 genomes]
rs73405898	0.92[EUR][1000 genomes]
rs73407806	0.89[EUR][1000 genomes]
rs73407807	0.89[EUR][1000 genomes]
rs73407809	0.89[EUR][1000 genomes]
rs73407811	0.89[EUR][1000 genomes]
rs73407814	0.89[EUR][1000 genomes]
rs73407815	0.89[EUR][1000 genomes]
rs73407816	0.89[EUR][1000 genomes]
rs73407817	0.89[EUR][1000 genomes]
rs73407821	0.92[EUR][1000 genomes]
rs73407823	0.92[EUR][1000 genomes]
rs73409840	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74015506	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74018312	0.97[EUR][1000 genomes]
rs8026190	0.92[EUR][1000 genomes]
rs8038091	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8042411	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[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	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 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	chr15:55462600-55488600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:55472400-55488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:55472600-55488400	Weak transcription	Esophagus	oesophagus
4	chr15:55482400-55488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:55485600-55490600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:55486000-55488400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:55486200-55488400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:55486600-55488800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:55486600-55490000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:55486800-55488400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr15:55486800-55490000	Active TSS	Psoas Muscle	Psoas
12	chr15:55487000-55488600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr15:55487000-55488600	Enhancers	Spleen	Spleen
14	chr15:55487000-55489000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr15:55487000-55489800	Active TSS	Colonic Mucosa	Colon
16	chr15:55487000-55490000	Active TSS	NHLF	lung
17	chr15:55487200-55488400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr15:55487200-55488400	Flanking Active TSS	Liver	Liver
19	chr15:55487200-55488400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr15:55487200-55490000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:55487200-55490200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr15:55487400-55488400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:55487400-55488400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr15:55487400-55488400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr15:55487400-55488400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr15:55487400-55488600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr15:55487400-55489600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:55487400-55490000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr15:55487400-55490200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr15:55487400-55490200	Active TSS	Right Atrium	heart
31	chr15:55487600-55488400	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr15:55487600-55488400	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr15:55487600-55488400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr15:55487600-55488600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr15:55487600-55488600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr15:55487600-55489200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr15:55487600-55490000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:55487600-55490000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:55487600-55490000	Active TSS	Fetal Brain Female	brain
40	chr15:55487600-55490200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:55487600-55490400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr15:55487800-55488400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:55487800-55488400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr15:55487800-55488400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:55487800-55488400	Flanking Active TSS	Fetal Lung	lung
46	chr15:55487800-55488400	Weak transcription	Gastric	stomach
47	chr15:55487800-55488400	Weak transcription	Pancreas	Pancrea
48	chr15:55487800-55488600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr15:55487800-55488600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr15:55487800-55489800	Active TSS	Placenta Amnion	Placenta Amnion

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