Variant report

Variant	rs72717685
Chromosome Location	chr15:33145617-33145618
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519758	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10519759	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12161966	0.80[EUR][1000 genomes]
rs16959975	0.83[EUR][1000 genomes]
rs4779590	0.81[EUR][1000 genomes]
rs4779592	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779593	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4780048	0.83[EUR][1000 genomes]
rs4780050	0.82[EUR][1000 genomes]
rs4780051	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56047883	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58581756	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60595307	0.80[EUR][1000 genomes]
rs72717689	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription 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 target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv482680	chr15:32958401-33154005	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33096200-33154000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:33096400-33159000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:33118600-33159000	Weak transcription	Gastric	stomach
4	chr15:33131200-33153800	Weak transcription	Fetal Kidney	kidney
5	chr15:33131800-33164800	Weak transcription	Pancreas	Pancrea
6	chr15:33132000-33148600	Weak transcription	Stomach Mucosa	stomach
7	chr15:33132400-33154000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:33132800-33154000	Weak transcription	Brain Angular Gyrus	brain
9	chr15:33133000-33148200	Weak transcription	Esophagus	oesophagus
10	chr15:33133000-33150400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:33135800-33148200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:33137800-33153600	Weak transcription	Fetal Thymus	thymus
13	chr15:33138800-33190600	Weak transcription	Thymus	Thymus
14	chr15:33139600-33145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:33139600-33190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:33141800-33146000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr15:33142000-33146200	Enhancers	HMEC	breast
18	chr15:33142600-33168200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:33143200-33146200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:33143200-33148600	Weak transcription	Placenta	Placenta
21	chr15:33143400-33150000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:33143800-33146200	Enhancers	HepG2	liver
23	chr15:33143800-33147800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:33144000-33153600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr15:33144200-33146800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr15:33144400-33145800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:33144400-33145800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:33144400-33145800	Flanking Active TSS	A549	lung
29	chr15:33144400-33147600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr15:33144600-33145800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:33144600-33147000	Weak transcription	HSMMtube	muscle
32	chr15:33144600-33147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:33145000-33146200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:33145000-33146400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr15:33145000-33146600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:33145200-33145800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:33145200-33146200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr15:33145200-33146200	Genic enhancers	HSMM	muscle
39	chr15:33145200-33147400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:33145200-33147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:33145200-33147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:33145200-33147400	Weak transcription	HUVEC	blood vessel
43	chr15:33145200-33147400	Weak transcription	Osteobl	bone
44	chr15:33145400-33147600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:33145400-33147600	Weak transcription	NHLF	lung
46	chr15:33145400-33147800	Weak transcription	Hela-S3	cervix
47	chr15:33145600-33146000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:33145600-33146000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:33145600-33146000	Weak transcription	NH-A	brain
50	chr15:33145600-33147400	Weak transcription	NHDF-Ad	bronchial

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