Variant report

Variant	rs67180946
Chromosome Location	chr7:104828926-104828927
allele	A/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	FOS	chr7:104827695-104828935	MCF10A-Er-Src	breast:	n/a	chr7:104827920-104827928
2	FOS	chr7:104827694-104828988	MCF10A-Er-Src	breast:	n/a	chr7:104827920-104827928
3	FOS	chr7:104828379-104828954	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr7:104828711-104828997	IMR90	lung:	n/a	n/a
5	STAT3	chr7:104828770-104829143	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000270764	TF binding region

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1010340	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10224539	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953475	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1135958	0.90[EUR][1000 genomes]
rs1204061	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154942	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155184	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155351	0.90[EUR][1000 genomes]
rs12530690	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532134	0.92[EUR][1000 genomes]
rs12532188	0.91[EUR][1000 genomes]
rs12532201	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532268	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533264	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533348	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12534381	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535043	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12535338	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536794	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537196	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537307	0.91[EUR][1000 genomes]
rs12538590	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1468359	0.92[EUR][1000 genomes]
rs1558048	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17270450	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17342493	0.86[EUR][1000 genomes]
rs17640508	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17640599	0.93[EUR][1000 genomes]
rs17640644	0.92[EUR][1000 genomes]
rs17640711	0.90[EUR][1000 genomes]
rs17707802	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707878	0.93[EUR][1000 genomes]
rs17708070	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040915	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2079340	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2079341	0.91[EUR][1000 genomes]
rs2299309	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2299327	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299328	0.93[EUR][1000 genomes]
rs2385557	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087867	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35787127	0.93[EUR][1000 genomes]
rs3801279	0.93[EUR][1000 genomes]
rs4406343	0.90[EUR][1000 genomes]
rs4580973	0.82[EUR][1000 genomes]
rs4605996	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55671517	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712418	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55949446	0.93[EUR][1000 genomes]
rs56132497	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251298	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56269269	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281713	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338352	0.89[EUR][1000 genomes]
rs57423264	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57599523	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60358227	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466048	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466049	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466050	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6466051	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466061	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66469172	0.91[EUR][1000 genomes]
rs66482905	0.87[EUR][1000 genomes]
rs66638610	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66790006	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66912872	0.90[EUR][1000 genomes]
rs67154126	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67162771	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67421818	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67505443	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67529088	0.93[EUR][1000 genomes]
rs67620169	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67780803	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67909511	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68113831	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942483	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945585	0.93[EUR][1000 genomes]
rs6949073	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949830	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950104	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952458	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954293	0.90[EUR][1000 genomes]
rs6954421	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6954692	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6954777	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6954830	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954844	0.90[EUR][1000 genomes]
rs6955133	0.93[EUR][1000 genomes]
rs6955753	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6958609	0.91[EUR][1000 genomes]
rs6959826	0.88[ASN][1000 genomes]
rs6963624	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963661	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966539	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968238	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968335	0.88[EUR][1000 genomes]
rs6972563	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973338	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6973708	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6974780	0.90[EUR][1000 genomes]
rs6974874	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974890	0.90[EUR][1000 genomes]
rs6978954	0.88[EUR][1000 genomes]
rs6979284	0.90[EUR][1000 genomes]
rs73186009	1.00[ASN][1000 genomes]
rs73186041	0.92[EUR][1000 genomes]
rs73186054	0.91[EUR][1000 genomes]
rs7776832	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780006	0.90[EUR][1000 genomes]
rs7782673	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782827	0.90[EUR][1000 genomes]
rs7790653	0.91[EUR][1000 genomes]
rs7794036	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794285	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7796274	0.88[EUR][1000 genomes]
rs7796945	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797988	0.89[EUR][1000 genomes]
rs7801685	0.85[EUR][1000 genomes]
rs7802168	0.91[EUR][1000 genomes]
rs7802568	0.92[EUR][1000 genomes]
rs7802653	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805639	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7805928	0.90[EUR][1000 genomes]
rs7808226	0.92[EUR][1000 genomes]
rs7809329	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7809464	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised 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	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
2	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
3	chr7:104806400-104838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:104806600-104836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104806600-104842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:104807600-104829800	Weak transcription	Thymus	Thymus
7	chr7:104809000-104836600	Weak transcription	HSMM	muscle
8	chr7:104809000-104838800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:104809600-104838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:104809800-104838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:104810200-104840600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:104814000-104839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:104815600-104836600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:104819800-104829400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:104820800-104833800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:104821000-104829200	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:104821000-104829800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:104821000-104838400	Weak transcription	Fetal Lung	lung
19	chr7:104821200-104830000	Weak transcription	Fetal Thymus	thymus
20	chr7:104821200-104830400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:104821600-104838400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:104822000-104836400	Weak transcription	A549	lung
23	chr7:104822000-104858800	Weak transcription	Gastric	stomach
24	chr7:104822800-104838200	Weak transcription	Primary T cells from cord blood	blood
25	chr7:104823600-104829400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:104823600-104848600	Strong transcription	Dnd41	blood
27	chr7:104825000-104837800	Weak transcription	NH-A	brain
28	chr7:104825200-104829800	Enhancers	HMEC	breast
29	chr7:104826200-104829800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:104826200-104831600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:104826400-104830400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:104826400-104831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:104826600-104830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:104827000-104839800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:104827400-104829400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:104827400-104843400	Weak transcription	Psoas Muscle	Psoas
37	chr7:104827400-104850400	Weak transcription	Aorta	Aorta
38	chr7:104827600-104829400	Weak transcription	Pancreas	Pancrea
39	chr7:104827600-104829800	Enhancers	NHEK	skin
40	chr7:104827600-104831200	Enhancers	Brain Anterior Caudate	brain
41	chr7:104827800-104837600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:104827800-104838800	Weak transcription	K562	blood
43	chr7:104828000-104829200	Enhancers	Osteobl	bone
44	chr7:104828000-104829800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:104828000-104830200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:104828000-104830200	Weak transcription	Primary B cells from cord blood	blood
47	chr7:104828000-104831200	Enhancers	Brain Cingulate Gyrus	brain
48	chr7:104828000-104838000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:104828200-104829400	Weak transcription	Left Ventricle	heart
50	chr7:104828200-104829800	Enhancers	NHDF-Ad	bronchial

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