Variant report

Variant	rs73978576
Chromosome Location	chr17:15884106-15884107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr17:15883767-15884802	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZSWIM7	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61755963	0.86[AFR][1000 genomes]
rs7208072	0.86[AFR][1000 genomes]
rs73978566	0.86[AFR][1000 genomes]
rs73978568	0.86[AFR][1000 genomes]
rs73978573	0.86[AFR][1000 genomes]
rs73978574	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15870400-15902400	Weak transcription	Small Intestine	intestine
2	chr17:15870800-15902400	Weak transcription	Esophagus	oesophagus
3	chr17:15873200-15902200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:15874800-15902400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:15875200-15884200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:15876600-15885400	Weak transcription	Hela-S3	cervix
7	chr17:15877600-15888800	Weak transcription	NHDF-Ad	bronchial
8	chr17:15877800-15891200	Strong transcription	Fetal Muscle Leg	muscle
9	chr17:15878200-15901800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:15879000-15884600	Weak transcription	NH-A	brain
11	chr17:15879600-15891600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:15880200-15901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:15881200-15892800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:15881400-15901800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:15881600-15885400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr17:15881800-15888000	Weak transcription	HepG2	liver
17	chr17:15882000-15884200	Weak transcription	Fetal Intestine Small	intestine
18	chr17:15882200-15884200	Weak transcription	HUVEC	blood vessel
19	chr17:15882200-15884400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:15882200-15884800	Weak transcription	Lung	lung
21	chr17:15882200-15885400	Weak transcription	HSMMtube	muscle
22	chr17:15882200-15887600	Weak transcription	Aorta	Aorta
23	chr17:15883200-15884400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr17:15883200-15884600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:15883200-15884600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:15883200-15885000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:15883200-15885400	Strong transcription	Fetal Brain Female	brain
28	chr17:15883200-15891200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:15883200-15894000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:15883400-15884200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:15883400-15884200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:15883400-15884400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:15883400-15884600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:15883400-15886200	Strong transcription	Brain Germinal Matrix	brain
35	chr17:15883400-15894400	Strong transcription	Fetal Stomach	stomach
36	chr17:15883400-15896600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:15883600-15884200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr17:15883600-15884200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
39	chr17:15883600-15884200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr17:15883600-15884200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr17:15883600-15884200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr17:15883600-15884200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr17:15883600-15884200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:15883600-15884200	Strong transcription	Pancreas	Pancrea
45	chr17:15883600-15884200	Genic enhancers	Rectal Mucosa Donor 31	rectum
46	chr17:15883600-15884400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:15883600-15884400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:15883600-15884400	Strong transcription	Fetal Intestine Large	intestine
49	chr17:15883600-15884400	Strong transcription	Osteobl	bone
50	chr17:15883600-15884600	Genic enhancers	Primary monocytes fromperipheralblood	blood

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