Variant report

Variant	rs12530690
Chromosome Location	chr7:105005566-105005567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1010340	0.86[EUR][1000 genomes]
rs10224539	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267939	0.93[EUR][1000 genomes]
rs10953475	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1135958	0.91[EUR][1000 genomes]
rs1204061	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12154942	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155184	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155351	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532134	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532188	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532201	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532268	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533264	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533348	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534381	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535043	0.87[EUR][1000 genomes]
rs12535338	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536794	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537196	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537307	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538590	0.89[EUR][1000 genomes]
rs1468359	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1558048	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17270450	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17342493	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17640508	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17640599	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17640644	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17640711	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17707802	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17707878	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17708070	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2040915	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079340	0.89[EUR][1000 genomes]
rs2079341	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2299309	0.87[EUR][1000 genomes]
rs2299327	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299328	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2385557	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087867	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35787127	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3801279	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4406343	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4580973	0.80[EUR][1000 genomes]
rs4605996	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55671517	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55712418	0.87[EUR][1000 genomes]
rs55949446	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56132497	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56251298	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56269269	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56281713	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56338352	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57423264	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57599523	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60358227	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466048	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466049	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466050	0.89[EUR][1000 genomes]
rs6466051	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466061	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66469172	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66482905	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66638610	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66790006	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66912872	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67154126	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67162771	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67180946	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67421818	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67505443	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67529088	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67620169	0.89[EUR][1000 genomes]
rs67780803	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67909511	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68113831	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6942483	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6945585	0.92[EUR][1000 genomes]
rs6947957	0.83[EUR][1000 genomes]
rs6949073	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6949830	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6950104	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6952458	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954293	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6954421	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954692	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954777	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954830	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954844	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6955133	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6955753	0.86[EUR][1000 genomes]
rs6958609	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6959826	0.96[ASN][1000 genomes]
rs6963624	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6963661	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6966539	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6968238	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6968335	0.82[EUR][1000 genomes]
rs6972563	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6973338	0.82[EUR][1000 genomes]
rs6973708	0.87[EUR][1000 genomes]
rs6974780	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6974874	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6974890	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6977994	0.91[EUR][1000 genomes]
rs6978496	0.83[EUR][1000 genomes]
rs6978954	0.92[EUR][1000 genomes]
rs6979284	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73186009	0.92[ASN][1000 genomes]
rs73186041	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73186054	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7776832	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7780006	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782673	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7782827	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7790653	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7794036	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7796274	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7796945	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7797988	0.90[EUR][1000 genomes]
rs7801685	0.86[EUR][1000 genomes]
rs7802168	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7802568	0.91[EUR][1000 genomes]
rs7802653	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7805639	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805928	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7808226	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7809329	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809464	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104993600-105008800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:104995000-105009000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:104995200-105006400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:104995200-105007800	Weak transcription	HSMM	muscle
5	chr7:104995200-105009000	Weak transcription	Right Atrium	heart
6	chr7:104995200-105028200	Weak transcription	Esophagus	oesophagus
7	chr7:104995400-105028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:104995600-105027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:104995800-105007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:104995800-105027200	Weak transcription	Primary T cells from cord blood	blood
11	chr7:104996000-105008800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:104996400-105017000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:104996800-105008800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:104996800-105008800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:104997400-105007400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:104997400-105007400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:104997400-105013000	Weak transcription	Dnd41	blood
18	chr7:104997400-105026800	Weak transcription	Primary B cells from cord blood	blood
19	chr7:104999600-105009000	Weak transcription	Psoas Muscle	Psoas
20	chr7:104999800-105007600	Weak transcription	Pancreas	Pancrea
21	chr7:104999800-105010000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:105000000-105009000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:105000000-105018000	Weak transcription	Lung	lung
24	chr7:105000000-105021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:105000000-105028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:105000200-105007600	Weak transcription	Gastric	stomach
27	chr7:105000200-105025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:105000400-105006000	Weak transcription	K562	blood
29	chr7:105003200-105027600	Weak transcription	Fetal Intestine Small	intestine
30	chr7:105003600-105025200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:105003800-105008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:105004600-105010600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:105005000-105006200	Enhancers	Left Ventricle	heart
34	chr7:105005000-105006400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:105005000-105007600	Weak transcription	Placenta	Placenta
36	chr7:105005000-105021200	Weak transcription	Fetal Stomach	stomach
37	chr7:105005200-105005600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:105005200-105005600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:105005200-105005600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:105005200-105005600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:105005200-105005600	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:105005200-105005600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:105005200-105005600	Enhancers	Adipose Nuclei	Adipose
44	chr7:105005200-105005600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr7:105005200-105005600	Enhancers	Ovary	ovary
46	chr7:105005200-105005600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:105005200-105005600	Enhancers	Osteobl	bone
48	chr7:105005200-105005800	Enhancers	HepG2	liver
49	chr7:105005200-105006200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:105005200-105006600	Enhancers	HUVEC	blood vessel

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