Variant report

Variant	rs3174720
Chromosome Location	chr17:15532147-15532148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55765122	0.83[ASN][1000 genomes]
rs55821658	0.83[ASN][1000 genomes]
rs72819874	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72819875	0.83[ASN][1000 genomes]
rs72819879	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15515400-15536000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:15519600-15538400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr17:15522200-15532200	Weak transcription	Fetal Intestine Large	intestine
4	chr17:15522600-15533000	Weak transcription	HSMMtube	muscle
5	chr17:15523000-15532600	Weak transcription	Brain Anterior Caudate	brain
6	chr17:15523000-15533400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:15523000-15533600	Weak transcription	Fetal Brain Female	brain
8	chr17:15523000-15544000	Weak transcription	Brain Angular Gyrus	brain
9	chr17:15523000-15544200	Weak transcription	NHDF-Ad	bronchial
10	chr17:15523000-15548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:15523000-15548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:15523000-15548600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:15523000-15548800	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:15523000-15548800	Weak transcription	Brain Substantia Nigra	brain
15	chr17:15523000-15548800	Weak transcription	Fetal Lung	lung
16	chr17:15523000-15551800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr17:15523200-15533400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr17:15524200-15548600	Weak transcription	Esophagus	oesophagus
19	chr17:15524400-15535400	Weak transcription	Aorta	Aorta
20	chr17:15525600-15533200	Weak transcription	HSMM	muscle
21	chr17:15525600-15533400	Weak transcription	Liver	Liver
22	chr17:15525800-15534800	Weak transcription	NH-A	brain
23	chr17:15527200-15538600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr17:15528200-15544400	Weak transcription	Psoas Muscle	Psoas
25	chr17:15528400-15534400	Weak transcription	HUVEC	blood vessel
26	chr17:15528800-15532800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr17:15528800-15534400	Strong transcription	A549	lung
28	chr17:15529000-15549200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:15529200-15532400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:15529600-15532800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:15529600-15533400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:15529600-15553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr17:15530000-15551800	Weak transcription	Right Ventricle	heart
34	chr17:15530000-15551800	Weak transcription	Small Intestine	intestine
35	chr17:15530200-15547400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:15530200-15548800	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:15530200-15549000	Weak transcription	Brain Germinal Matrix	brain
38	chr17:15530200-15552000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr17:15530200-15553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:15530400-15548600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:15530400-15553200	Weak transcription	Spleen	Spleen
42	chr17:15530600-15535600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:15530600-15548800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:15531000-15532600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr17:15531000-15535400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:15531400-15533600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:15531400-15533800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:15531400-15533800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:15531400-15533800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:15531400-15535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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