Variant report

Variant	rs1693532
Chromosome Location	chr15:59286019-59286020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59283452..59286029-chr15:59288574..59290145,2	K562	blood:
2	chr15:59278480..59283814-chr15:59285874..59290996,8	MCF-7	breast:
3	chr15:59281637..59284410-chr15:59285057..59286558,2	K562	blood:
4	chr15:59279694..59282503-chr15:59284876..59287172,2	MCF-7	breast:
5	chr15:59285878..59288582-chr15:59291111..59293120,2	K562	blood:

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10431791	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10518996	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs10851643	0.82[JPT][hapmap]
rs11635820	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11852461	0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12101733	0.82[ASN][1000 genomes]
rs12438111	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12440692	0.82[JPT][hapmap]
rs12913177	0.87[JPT][hapmap]
rs1345116	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs1374155	0.81[CHB][hapmap]
rs1446237	0.81[CHB][hapmap]
rs1446239	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1665049	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1665050	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1665051	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17236369	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17236383	0.81[CHB][hapmap]
rs1867757	0.87[JPT][hapmap]
rs2121236	0.82[JPT][hapmap]
rs34718679	0.86[ASN][1000 genomes]
rs4531679	0.87[JPT][hapmap]
rs4774320	0.81[CHB][hapmap]
rs4774321	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4775110	0.85[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4775111	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs58417366	0.82[ASN][1000 genomes]
rs62002516	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6494054	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs6494064	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs6494065	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6494069	0.85[JPT][hapmap]
rs7168102	0.88[ASN][1000 genomes]
rs7173135	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7175215	0.82[ASN][1000 genomes]
rs7175246	0.87[ASN][1000 genomes]
rs7175490	0.81[CHB][hapmap]
rs7176281	0.84[ASN][1000 genomes]
rs7176576	0.87[ASN][1000 genomes]
rs7178935	0.87[JPT][hapmap]
rs8025246	0.84[ASN][1000 genomes]
rs8027536	0.89[ASN][1000 genomes]
rs8028752	0.94[CEU][hapmap];0.81[CHB][hapmap]
rs8028764	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8029336	0.82[ASN][1000 genomes]
rs8030246	0.81[CHB][hapmap]
rs8037569	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8040456	0.87[JPT][hapmap]
rs8041221	0.86[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8042516	0.87[JPT][hapmap]
rs9302206	0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59280800-59295200	Weak transcription	Gastric	stomach
2	chr15:59280800-59308800	Weak transcription	Esophagus	oesophagus
3	chr15:59280800-59327800	Weak transcription	Small Intestine	intestine
4	chr15:59281000-59292400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:59281400-59294800	Weak transcription	Psoas Muscle	Psoas
7	chr15:59281400-59305800	Weak transcription	Brain Substantia Nigra	brain
8	chr15:59281400-59323200	Weak transcription	Ovary	ovary
9	chr15:59281400-59347800	Weak transcription	Colonic Mucosa	Colon
10	chr15:59281600-59311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:59281800-59287200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:59281800-59297800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
14	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:59282000-59287200	Weak transcription	Adipose Nuclei	Adipose
16	chr15:59282000-59287200	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:59282000-59305800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:59282000-59323000	Weak transcription	Fetal Lung	lung
19	chr15:59282000-59323200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:59282000-59323200	Weak transcription	Fetal Kidney	kidney
21	chr15:59282200-59287200	Weak transcription	Brain Anterior Caudate	brain
22	chr15:59282400-59286800	Weak transcription	HUVEC	blood vessel
23	chr15:59282400-59288800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:59282400-59290600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:59282400-59291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:59282400-59296800	Weak transcription	NH-A	brain
27	chr15:59282400-59297400	Weak transcription	HMEC	breast
28	chr15:59282400-59305400	Weak transcription	Fetal Heart	heart
29	chr15:59282400-59308600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:59282400-59323200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:59282400-59323400	Weak transcription	NHLF	lung
32	chr15:59282600-59286400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:59282600-59287000	Weak transcription	Brain Germinal Matrix	brain
34	chr15:59282600-59287000	Strong transcription	Fetal Stomach	stomach
35	chr15:59282600-59288800	Strong transcription	Fetal Intestine Small	intestine
36	chr15:59282600-59297600	Weak transcription	NHDF-Ad	bronchial
37	chr15:59282600-59306400	Weak transcription	Brain Angular Gyrus	brain
38	chr15:59282800-59287200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:59282800-59287400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:59282800-59292600	Weak transcription	Left Ventricle	heart
41	chr15:59282800-59297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:59283000-59287000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:59283000-59287200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:59283000-59287400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:59283200-59287000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:59283200-59287400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:59283600-59287400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr15:59283600-59296200	Weak transcription	HepG2	liver
49	chr15:59283600-59305600	Weak transcription	Stomach Mucosa	stomach
50	chr15:59283800-59288400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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