Variant report

Variant	rs56930622
Chromosome Location	chr7:104918488-104918489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10227783	1.00[EUR][1000 genomes]
rs10235921	1.00[EUR][1000 genomes]
rs10429247	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1204079	1.00[EUR][1000 genomes]
rs1204081	1.00[EUR][1000 genomes]
rs1204082	1.00[EUR][1000 genomes]
rs12111884	1.00[EUR][1000 genomes]
rs12112114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299302	1.00[EUR][1000 genomes]
rs28832590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55931372	1.00[EUR][1000 genomes]
rs56063525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56296263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57280586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58306520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59691189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60188077	1.00[EUR][1000 genomes]
rs60294737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60766560	1.00[EUR][1000 genomes]
rs73404021	1.00[EUR][1000 genomes]
rs73715438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715452	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73715545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73717957	1.00[EUR][1000 genomes]
rs73717959	1.00[EUR][1000 genomes]
rs73717961	1.00[EUR][1000 genomes]
rs73717963	1.00[EUR][1000 genomes]
rs757957	1.00[EUR][1000 genomes]
rs9969144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	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
12	esv2753646	chr7:104905588-104972800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104908000-104924600	Weak transcription	Spleen	Spleen
2	chr7:104909600-104924200	Weak transcription	Left Ventricle	heart
3	chr7:104910200-104919200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:104910200-104919800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:104910200-104919800	Weak transcription	Aorta	Aorta
6	chr7:104910200-104919800	Weak transcription	Fetal Stomach	stomach
7	chr7:104910200-104919800	Weak transcription	HepG2	liver
8	chr7:104910200-104924400	Weak transcription	Right Ventricle	heart
9	chr7:104910200-104925600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:104910200-104935000	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:104910400-104919600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:104910400-104923400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:104910600-104919200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:104910600-104919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:104910600-104919800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:104910600-104919800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:104910600-104923800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:104910800-104919400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:104910800-104919600	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:104910800-104919800	Weak transcription	Fetal Lung	lung
21	chr7:104910800-104921600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:104910800-104922000	Weak transcription	Fetal Heart	heart
23	chr7:104910800-104924000	Weak transcription	HSMM	muscle
24	chr7:104910800-104925800	Weak transcription	Fetal Thymus	thymus
25	chr7:104910800-104926000	Weak transcription	Right Atrium	heart
26	chr7:104910800-104929000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:104910800-104934400	Weak transcription	Primary T cells from cord blood	blood
28	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
29	chr7:104911400-104934800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:104911600-104920600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:104912000-104929800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:104912200-104919600	Weak transcription	Ovary	ovary
33	chr7:104912200-104939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:104913200-104936200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:104915600-104919000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:104915600-104920000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:104916200-104919800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:104917000-104924200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:104917200-104918600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:104917200-104918600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:104917200-104918800	Enhancers	HMEC	breast
42	chr7:104917200-104919400	Weak transcription	Dnd41	blood
43	chr7:104917200-104944600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:104917400-104918800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:104917400-104919800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:104917400-104919800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:104917400-104926400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:104917600-104919800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:104917800-104918600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:104918000-104918600	Enhancers	A549	lung

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