Variant report

Variant	rs72819874
Chromosome Location	chr17:15547428-15547429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3174720	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55731200	0.82[EUR][1000 genomes]
rs55765122	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55821658	1.00[ASN][1000 genomes]
rs72819875	1.00[ASN][1000 genomes]
rs72819879	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv978368	chr17:15536487-15550772	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15523000-15548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:15523000-15548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr17:15523000-15548600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:15523000-15548800	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:15523000-15548800	Weak transcription	Brain Substantia Nigra	brain
6	chr17:15523000-15548800	Weak transcription	Fetal Lung	lung
7	chr17:15523000-15551800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr17:15524200-15548600	Weak transcription	Esophagus	oesophagus
9	chr17:15529000-15549200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:15529600-15553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:15530000-15551800	Weak transcription	Right Ventricle	heart
12	chr17:15530000-15551800	Weak transcription	Small Intestine	intestine
13	chr17:15530200-15548800	Weak transcription	Colon Smooth Muscle	Colon
14	chr17:15530200-15549000	Weak transcription	Brain Germinal Matrix	brain
15	chr17:15530200-15552000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:15530200-15553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:15530400-15548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:15530400-15553200	Weak transcription	Spleen	Spleen
19	chr17:15530600-15548800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:15531400-15549200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:15531800-15548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:15531800-15553600	Weak transcription	Fetal Kidney	kidney
23	chr17:15532200-15548600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr17:15532200-15548800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr17:15532400-15554000	Weak transcription	Ovary	ovary
26	chr17:15532600-15548000	Weak transcription	Gastric	stomach
27	chr17:15532600-15548600	Weak transcription	Left Ventricle	heart
28	chr17:15532600-15548800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:15533200-15548000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr17:15533400-15553000	Weak transcription	NHLF	lung
31	chr17:15533800-15548600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:15533800-15548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:15533800-15548600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:15533800-15548800	Weak transcription	Brain Anterior Caudate	brain
35	chr17:15533800-15548800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:15533800-15551600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:15534000-15551800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:15534000-15553200	Weak transcription	Fetal Brain Female	brain
39	chr17:15534000-15553600	Weak transcription	Liver	Liver
40	chr17:15534600-15548800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:15534600-15551800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr17:15535000-15548600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:15535200-15548600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr17:15535400-15548600	Weak transcription	Adipose Nuclei	Adipose
45	chr17:15535400-15553000	Weak transcription	Colonic Mucosa	Colon
46	chr17:15536400-15551200	Weak transcription	Lung	lung
47	chr17:15536600-15548600	Weak transcription	NH-A	brain
48	chr17:15542400-15548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr17:15544400-15554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:15544600-15549000	Weak transcription	Fetal Stomach	stomach

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