Variant report

Variant	rs59853681
Chromosome Location	chr15:51173181-51173182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51171477..51173642-chr15:51201316..51203040,2	K562	blood:
2	chr15:51056324..51059354-chr15:51172484..51179110,10	MCF-7	breast:
3	chr15:51171742..51173328-chr15:51175943..51178564,2	MCF-7	breast:
4	chr15:50976848..50980229-chr15:51173151..51177604,4	K562	blood:
5	chr15:50978180..50981004-chr15:51171642..51173562,3	MCF-7	breast:
6	chr15:50976848..50980049-chr15:51172135..51175652,4	K562	blood:

Variant related genes	Relation type
ENSG00000092439	Chromatin interaction
ENSG00000138600	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16963979	0.81[AFR][1000 genomes]
rs55763666	0.83[AFR][1000 genomes]
rs56289716	0.83[AFR][1000 genomes]
rs56374503	0.97[AFR][1000 genomes]
rs57322405	1.00[AMR][1000 genomes]
rs57949904	0.83[AFR][1000 genomes]
rs58651255	0.92[AFR][1000 genomes]
rs58853092	1.00[AMR][1000 genomes]
rs59865784	0.92[AFR][1000 genomes]
rs60700183	0.92[AFR][1000 genomes]
rs60775199	0.92[AFR][1000 genomes]
rs61106666	0.92[AFR][1000 genomes]
rs61698311	0.83[AFR][1000 genomes]
rs6493467	0.81[AFR][1000 genomes]
rs7175547	0.83[AFR][1000 genomes]
rs74012820	0.83[AFR][1000 genomes]
rs74012821	0.83[AFR][1000 genomes]
rs74013135	1.00[AMR][1000 genomes]
rs74013136	1.00[AMR][1000 genomes]
rs74013140	1.00[AMR][1000 genomes]
rs74015226	0.92[AFR][1000 genomes]
rs74015228	0.92[AFR][1000 genomes]
rs74015229	0.92[AFR][1000 genomes]
rs74015230	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking 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	63 gene(s)	inside rSNPs	diseases
15	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
16	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
17	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
18	nsv516168	chr15:51114437-51217361	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51151200-51177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:51163600-51176400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:51168800-51175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:51169200-51178200	Weak transcription	Right Ventricle	heart
5	chr15:51169200-51180000	Weak transcription	Right Atrium	heart
6	chr15:51169400-51176000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:51169400-51177400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr15:51169600-51173400	Weak transcription	Placenta	Placenta
9	chr15:51169600-51174800	Enhancers	Dnd41	blood
10	chr15:51169600-51175800	Weak transcription	Esophagus	oesophagus
11	chr15:51169600-51176000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:51169600-51176200	Weak transcription	Adipose Nuclei	Adipose
13	chr15:51169600-51176200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:51169600-51176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:51169600-51177400	Weak transcription	Brain Anterior Caudate	brain
16	chr15:51169600-51177400	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:51169600-51177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:51169800-51173600	Weak transcription	Liver	Liver
19	chr15:51170000-51176200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:51171000-51174800	Enhancers	NHEK	skin
21	chr15:51171000-51177800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:51171200-51173800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:51171200-51174600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:51171200-51174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:51171400-51174600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr15:51171600-51174000	Weak transcription	HepG2	liver
27	chr15:51171600-51176200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:51171600-51177400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:51171800-51177000	Weak transcription	Small Intestine	intestine
30	chr15:51172200-51173600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:51172200-51173600	Enhancers	HSMMtube	muscle
32	chr15:51172200-51174800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:51172400-51173600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr15:51172400-51173600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:51172400-51173800	Flanking Active TSS	GM12878-XiMat	blood
36	chr15:51172400-51173800	Enhancers	NHLF	lung
37	chr15:51172400-51173800	Enhancers	Osteobl	bone
38	chr15:51172400-51174000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:51172400-51174000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:51172400-51174000	Enhancers	HSMM	muscle
41	chr15:51172400-51174200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr15:51172400-51174200	Enhancers	Hela-S3	cervix
43	chr15:51172400-51174600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:51172400-51174600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:51172400-51174600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr15:51172400-51174600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:51172400-51174800	Enhancers	A549	lung
48	chr15:51172400-51174800	Enhancers	HMEC	breast
49	chr15:51172600-51173200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr15:51172600-51173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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