Variant report

Variant	rs2040915
Chromosome Location	chr7:104979558-104979559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104974522..104976847-chr7:104979071..104980731,2	K562	blood:
2	chr7:104837867..104839378-chr7:104977960..104980667,2	MCF-7	breast:

Extended variants
information (count: 143 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1010340	0.87[EUR][1000 genomes]
rs10224539	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267939	0.92[EUR][1000 genomes]
rs10953475	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1135958	0.92[EUR][1000 genomes]
rs1204061	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12154942	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155184	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155351	0.94[EUR][1000 genomes]
rs12530690	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532134	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12532188	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532201	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532268	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533264	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533348	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534381	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535043	0.88[EUR][1000 genomes]
rs12535338	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536794	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537196	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537307	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12538590	0.90[EUR][1000 genomes]
rs1468359	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1558048	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17270450	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17342493	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17640508	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17640599	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17640644	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17640711	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17707802	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17707878	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17708070	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2079340	0.90[EUR][1000 genomes]
rs2079341	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2299309	0.88[EUR][1000 genomes]
rs2299327	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299328	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2385557	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087867	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35787127	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3801279	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4406343	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4580973	0.81[EUR][1000 genomes]
rs4605996	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55671517	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55712418	0.88[EUR][1000 genomes]
rs55949446	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56132497	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56251298	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56269269	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56281713	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56338352	0.93[EUR][1000 genomes]
rs57423264	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57599523	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60358227	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466048	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466049	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466050	0.90[EUR][1000 genomes]
rs6466051	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466061	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66469172	0.93[EUR][1000 genomes]
rs66482905	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66638610	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66790006	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66912872	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67154126	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67162771	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67180946	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67421818	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67505443	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67529088	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67620169	0.90[EUR][1000 genomes]
rs67780803	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67909511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68113831	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6942483	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6945585	0.93[EUR][1000 genomes]
rs6947957	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6949073	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6949830	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6950104	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6952458	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954293	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954421	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6954692	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6954777	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6954830	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954844	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6955133	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6955753	0.87[EUR][1000 genomes]
rs6958609	0.93[EUR][1000 genomes]
rs6959826	0.96[ASN][1000 genomes]
rs6963624	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6963661	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6966539	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6968238	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6968335	0.83[EUR][1000 genomes]
rs6972563	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6973338	0.83[EUR][1000 genomes]
rs6973708	0.88[EUR][1000 genomes]
rs6974780	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6974874	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6974890	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6977994	0.90[EUR][1000 genomes]
rs6978496	0.82[EUR][1000 genomes]
rs6978954	0.93[EUR][1000 genomes]
rs6979284	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73186009	0.92[ASN][1000 genomes]
rs73186041	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73186054	0.93[EUR][1000 genomes]
rs7776832	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7780006	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7782673	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7782827	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7790653	0.93[EUR][1000 genomes]
rs7794036	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7796274	0.92[EUR][1000 genomes]
rs7796945	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7797988	0.91[EUR][1000 genomes]
rs7801685	0.87[EUR][1000 genomes]
rs7802168	0.93[EUR][1000 genomes]
rs7802568	0.92[EUR][1000 genomes]
rs7802653	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7805639	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805928	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7808226	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7809329	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809464	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104948600-104988000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:104957400-104986800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:104958000-104983200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:104961600-104980200	Weak transcription	Psoas Muscle	Psoas
5	chr7:104962800-104992600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:104963000-104983000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:104963200-104991200	Weak transcription	Fetal Stomach	stomach
8	chr7:104963600-104980000	Weak transcription	Brain Anterior Caudate	brain
9	chr7:104964200-104983200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:104964400-104983400	Weak transcription	Primary T cells from cord blood	blood
11	chr7:104966200-104980600	Weak transcription	Primary B cells from cord blood	blood
12	chr7:104966200-104985800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:104967200-104986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:104968200-104986800	Weak transcription	Gastric	stomach
15	chr7:104970000-104979800	Weak transcription	Brain Angular Gyrus	brain
16	chr7:104972200-104983200	Weak transcription	A549	lung
17	chr7:104972400-104983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:104973000-104980000	Weak transcription	Right Ventricle	heart
19	chr7:104973200-104980000	Weak transcription	Ovary	ovary
20	chr7:104973200-104983200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:104973200-104998800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:104973400-104980000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:104973600-104980000	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:104973600-104980800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:104973600-104981000	Weak transcription	K562	blood
26	chr7:104973600-104981600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:104973800-104980200	Weak transcription	Lung	lung
28	chr7:104973800-104985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:104976200-104980400	Weak transcription	NHLF	lung
30	chr7:104976800-104991600	Weak transcription	HSMM	muscle
31	chr7:104977800-104980000	Weak transcription	Dnd41	blood
32	chr7:104978200-104985800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:104978400-104986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:104978400-104988000	Weak transcription	Fetal Brain Male	brain
35	chr7:104978600-104979800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:104979000-104980000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:104979000-104980000	Weak transcription	Left Ventricle	heart
38	chr7:104979400-104979600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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