Variant report

Variant	rs73978597
Chromosome Location	chr17:15912335-15912336
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15910738..15912780-chr17:15917922..15919655,2	K562	blood:
2	chr17:15911381..15914344-chr17:15917325..15919916,2	MCF-7	breast:
3	chr17:15904178..15905978-chr17:15910048..15912649,2	K562	blood:
4	chr17:15911426..15914074-chr17:15914828..15917002,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
16	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15904400-15912600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr17:15904600-15912600	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr17:15904600-15913400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:15904800-15912400	Strong transcription	Fetal Thymus	thymus
5	chr17:15904800-15912600	Strong transcription	Colon Smooth Muscle	Colon
6	chr17:15904800-15912600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:15904800-15912600	Strong transcription	Fetal Lung	lung
8	chr17:15904800-15912600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:15904800-15914400	Strong transcription	Liver	Liver
10	chr17:15904800-15915800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:15904800-15917200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:15905000-15912600	Strong transcription	Brain Angular Gyrus	brain
13	chr17:15905000-15912600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:15905000-15912600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:15905000-15912600	Strong transcription	Stomach Smooth Muscle	stomach
16	chr17:15905000-15912600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:15905000-15913200	Strong transcription	NHDF-Ad	bronchial
18	chr17:15905000-15914600	Weak transcription	Stomach Mucosa	stomach
19	chr17:15905000-15915000	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr17:15905000-15915200	Strong transcription	HSMM	muscle
21	chr17:15905000-15915600	Strong transcription	NH-A	brain
22	chr17:15905000-15915800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:15905000-15916000	Strong transcription	Osteobl	bone
24	chr17:15905000-15916800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:15905000-15939600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:15905000-15946400	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr17:15905200-15912600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:15905200-15912600	Strong transcription	Primary T cells from cord blood	blood
29	chr17:15905200-15912600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:15905200-15912600	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr17:15905200-15912600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:15905200-15912800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:15905200-15912800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:15905200-15913000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr17:15905200-15913200	Strong transcription	Brain Germinal Matrix	brain
36	chr17:15905200-15913200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr17:15905200-15913400	Strong transcription	Placenta	Placenta
38	chr17:15905200-15918000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr17:15905200-15918600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr17:15905200-15919400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr17:15905200-15923200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:15905200-15986400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr17:15905400-15912600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:15905400-15912600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:15905400-15912600	Strong transcription	Brain Anterior Caudate	brain
46	chr17:15905400-15912600	Strong transcription	Brain Hippocampus Middle	brain
47	chr17:15905400-15912600	Strong transcription	NHLF	lung
48	chr17:15905400-15912800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:15905400-15913200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:15905400-15913200	Strong transcription	Duodenum Mucosa	Duodenum

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