Variant report

Variant	rs73981444
Chromosome Location	chr17:15988617-15988618
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	STAT3	chr17:15988355-15988766	MCF10A-Er-Src	breast:	n/a	chr17:15988504-15988515
2	STAT3	chr17:15988358-15988809	MCF10A-Er-Src	breast:	n/a	chr17:15988504-15988515
3	STAT3	chr17:15988364-15988775	MCF10A-Er-Src	breast:	n/a	chr17:15988504-15988515
4	FOS	chr17:15988436-15988861	MCF10A-Er-Src	breast:	n/a	n/a
5	TCF12	chr17:15988570-15989136	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr17:15988407-15988944	IMR90	lung:	n/a	n/a
7	FOS	chr17:15988410-15988910	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr17:15988423-15988912	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr17:15988485-15988779	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFK	chr17:15988474-15989055	IMR90	lung:	n/a	n/a
11	FOS	chr17:15988387-15988866	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15987048..15989365-chr17:16117375..16120147,2	MCF-7	breast:

Variant related genes	Relation type
NCOR1	TF binding region
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1073093	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1073094	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1073095	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11078322	0.85[EUR][1000 genomes]
rs11554356	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16959521	0.85[EUR][1000 genomes]
rs16959544	0.84[ASN][1000 genomes]
rs16959547	0.84[ASN][1000 genomes]
rs3744328	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3760295	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3760296	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4791659	0.85[EUR][1000 genomes]
rs4792714	0.85[EUR][1000 genomes]
rs55978925	0.84[ASN][1000 genomes]
rs56054575	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56190835	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56195102	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56258621	0.85[EUR][1000 genomes]
rs56375441	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56733317	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57825293	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58883023	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59172522	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59665399	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59749475	0.85[EUR][1000 genomes]
rs60011951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60198485	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61352879	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61365058	0.87[EUR][1000 genomes]
rs62073589	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6502484	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6502486	0.85[EUR][1000 genomes]
rs6502487	0.85[EUR][1000 genomes]
rs7207901	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7212804	0.85[EUR][1000 genomes]
rs7213125	0.85[EUR][1000 genomes]
rs7218152	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7219263	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7220790	0.85[EUR][1000 genomes]
rs7223409	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7224403	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73978591	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73978592	0.85[EUR][1000 genomes]
rs73978593	0.85[EUR][1000 genomes]
rs73978594	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73978596	0.85[EUR][1000 genomes]
rs73978602	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981406	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981410	1.00[EUR][1000 genomes]
rs73981413	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981414	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981417	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73981431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73981433	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73981436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981438	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981440	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981442	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981443	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73981445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73981447	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981450	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73981464	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73981466	0.84[ASN][1000 genomes]
rs73981467	0.84[ASN][1000 genomes]
rs73981471	0.84[ASN][1000 genomes]
rs8067494	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8070719	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8073693	0.85[EUR][1000 genomes]
rs8074888	0.85[EUR][1000 genomes]
rs8077643	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8078888	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8079698	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	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
10	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
11	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
12	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
13	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
14	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	esv1792054	chr17:15934025-16010920	Strong transcription Enhancers Weak transcription 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	8 gene(s)	inside rSNPs	diseases
16	esv1802470	chr17:15976558-16004368	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv907711	chr17:15978663-16092902	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv907712	chr17:15981874-16103426	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr17:15913800-15990800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:15915400-15998000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:15921000-15991000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr17:15921000-15991200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr17:15923800-15998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:15931800-15988800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:15944800-15991000	Strong transcription	Fetal Intestine Large	intestine
8	chr17:15955800-15990600	Strong transcription	Fetal Thymus	thymus
9	chr17:15956400-15990800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:15957400-15990600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:15958000-15991000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:15961600-15995000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr17:15968000-16004600	Weak transcription	Stomach Mucosa	stomach
14	chr17:15975000-16000000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:15975000-16000800	Weak transcription	Small Intestine	intestine
16	chr17:15977200-15990800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr17:15979800-16000000	Weak transcription	Fetal Heart	heart
18	chr17:15980200-16000000	Weak transcription	Esophagus	oesophagus
19	chr17:15982000-15994400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:15982600-15994600	Weak transcription	Spleen	Spleen
21	chr17:15982600-15994600	Weak transcription	NHEK	skin
22	chr17:15982600-15999400	Weak transcription	Right Ventricle	heart
23	chr17:15983200-15990000	Weak transcription	HMEC	breast
24	chr17:15983200-16000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:15983400-15989400	Weak transcription	Fetal Brain Male	brain
26	chr17:15984000-15988800	Weak transcription	NHLF	lung
27	chr17:15984000-15989600	Weak transcription	Colonic Mucosa	Colon
28	chr17:15984000-15990200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:15984000-15994000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:15984000-15994400	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:15984000-15994600	Weak transcription	Ovary	ovary
32	chr17:15984000-15994600	Weak transcription	Psoas Muscle	Psoas
33	chr17:15984000-16000000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr17:15984000-16000000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:15984000-16000000	Weak transcription	Gastric	stomach
36	chr17:15984000-16000000	Weak transcription	Pancreas	Pancrea
37	chr17:15985200-15990200	Weak transcription	Lung	lung
38	chr17:15985200-15994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:15985200-16000000	Weak transcription	Aorta	Aorta
40	chr17:15985400-15988800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:15985400-15988800	Weak transcription	Fetal Kidney	kidney
42	chr17:15985400-15989000	Weak transcription	Brain Germinal Matrix	brain
43	chr17:15985400-15989000	Weak transcription	Placenta	Placenta
44	chr17:15985400-15989000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:15985400-15989200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:15985400-15990800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:15985400-15991200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:15985400-15995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:15985400-15997200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:15985600-15994800	Weak transcription	K562	blood

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