Variant report

Variant	rs73276056
Chromosome Location	chr17:15888018-15888019
allele	A/G
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	USF1	chr17:15887771-15888191	HCT-116	colon:	n/a	n/a
2	USF1	chr17:15887945-15888107	SK-N-SH_RA	brain:	n/a	n/a
3	USF1	chr17:15887854-15888099	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15872821..15874890-chr17:15887879..15890256,2	K562	blood:

Variant related genes	Relation type
ZSWIM7	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12103931	1.00[EUR][1000 genomes]
rs2228101	1.00[EUR][1000 genomes]
rs57479165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58182068	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58206797	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58517927	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58678411	1.00[EUR][1000 genomes]
rs59239162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59242320	1.00[EUR][1000 genomes]
rs59543390	1.00[EUR][1000 genomes]
rs59647552	1.00[EUR][1000 genomes]
rs59805617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60314157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60453431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60636875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812331	1.00[EUR][1000 genomes]
rs60842225	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61374610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61478648	1.00[EUR][1000 genomes]
rs7209874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7209920	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211406	1.00[EUR][1000 genomes]
rs7213299	1.00[EUR][1000 genomes]
rs73274315	1.00[EUR][1000 genomes]
rs73274366	1.00[EUR][1000 genomes]
rs73274391	1.00[EUR][1000 genomes]
rs73274394	1.00[EUR][1000 genomes]
rs73276038	1.00[EUR][1000 genomes]
rs73276041	1.00[EUR][1000 genomes]
rs73276049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276059	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276071	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276085	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280217	1.00[EUR][1000 genomes]
rs73280221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280227	1.00[EUR][1000 genomes]
rs73280233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280240	1.00[EUR][1000 genomes]
rs73280256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280272	1.00[EUR][1000 genomes]
rs73280300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281909	1.00[EUR][1000 genomes]
rs73281922	1.00[AMR][1000 genomes];1.00[EUR][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:122 , 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	chr17:15877600-15888800	Weak transcription	NHDF-Ad	bronchial
6	chr17:15877800-15891200	Strong transcription	Fetal Muscle Leg	muscle
7	chr17:15878200-15901800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:15879600-15891600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:15880200-15901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:15881200-15892800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:15881400-15901800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:15883200-15891200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:15883200-15894000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:15883400-15894400	Strong transcription	Fetal Stomach	stomach
15	chr17:15883400-15896600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:15883600-15888200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr17:15883600-15888400	Strong transcription	Colon Smooth Muscle	Colon
18	chr17:15883600-15889600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:15883600-15890800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:15883600-15890800	Strong transcription	Fetal Thymus	thymus
21	chr17:15883600-15891000	Strong transcription	Left Ventricle	heart
22	chr17:15883600-15891600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:15883600-15892000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:15883600-15892000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:15883600-15893000	Strong transcription	Adipose Nuclei	Adipose
26	chr17:15883600-15893200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr17:15883600-15893200	Strong transcription	Dnd41	blood
28	chr17:15883600-15893600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:15883600-15893600	Strong transcription	Fetal Lung	lung
30	chr17:15883600-15895200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:15883600-15895400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:15883600-15896600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:15883600-15898000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr17:15883600-15898400	Strong transcription	Liver	Liver
35	chr17:15883800-15888400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr17:15883800-15892000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:15884000-15901600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr17:15884000-15902200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:15884200-15893000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:15884400-15902000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr17:15884600-15890000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr17:15884600-15890200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:15884600-15890800	Strong transcription	Primary T cells from cord blood	blood
44	chr17:15884600-15898600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:15884600-15901600	Weak transcription	Fetal Kidney	kidney
46	chr17:15884600-15901600	Weak transcription	NHLF	lung
47	chr17:15884600-15902000	Weak transcription	Fetal Brain Male	brain
48	chr17:15884600-15902400	Weak transcription	Gastric	stomach
49	chr17:15884800-15889800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr17:15884800-15890000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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