Variant report

Variant	rs73409846
Chromosome Location	chr7:104939724-104939725
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs58180831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58959327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60968925	1.00[AMR][1000 genomes]
rs61334733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405817	1.00[AMR][1000 genomes]
rs73405824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405840	1.00[AMR][1000 genomes]
rs73405842	1.00[AMR][1000 genomes]
rs73405879	1.00[AMR][1000 genomes]
rs73407822	1.00[AMR][1000 genomes]
rs73407843	1.00[AMR][1000 genomes]
rs73407877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407879	1.00[AMR][1000 genomes]
rs73409847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409856	1.00[AMR][1000 genomes]
rs73409858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
13	esv1803707	chr7:104928335-104948317	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	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
15	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:104917200-104944600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:104923200-104944200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:104925000-104944200	Weak transcription	A549	lung
6	chr7:104926400-104944600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:104929400-104944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:104929800-104944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:104934800-104944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:104935000-104942200	Weak transcription	Brain Anterior Caudate	brain
11	chr7:104935000-104944200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:104935200-104942400	Weak transcription	Brain Angular Gyrus	brain
13	chr7:104936000-104942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:104936600-104940400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:104937600-104941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:104937800-104944000	Weak transcription	HepG2	liver
17	chr7:104938200-104941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:104938400-104940000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:104938400-104940800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:104938400-104941000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:104938400-104942400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:104938600-104940200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:104938600-104940200	Flanking Active TSS	Dnd41	blood
24	chr7:104938600-104940400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:104938600-104941200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:104938800-104939800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:104938800-104942600	Enhancers	Fetal Thymus	thymus
28	chr7:104939000-104939800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:104939000-104939800	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:104939000-104939800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:104939000-104939800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:104939000-104940200	Enhancers	Thymus	Thymus
33	chr7:104939200-104939800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:104939200-104939800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:104939200-104939800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:104939200-104939800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:104939200-104939800	Enhancers	Brain Hippocampus Middle	brain
38	chr7:104939200-104939800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:104939200-104940000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:104939200-104940200	Enhancers	Lung	lung
41	chr7:104939200-104940800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr7:104939200-104954400	Weak transcription	Stomach Mucosa	stomach
43	chr7:104939400-104939800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:104939400-104940000	Enhancers	GM12878-XiMat	blood
45	chr7:104939400-104944400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:104939400-104950200	Weak transcription	Psoas Muscle	Psoas
47	chr7:104939400-104950200	Weak transcription	Right Atrium	heart
48	chr7:104939600-104940000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:104939600-104940800	Weak transcription	Primary T cells from cord blood	blood
50	chr7:104939600-104941800	Weak transcription	Spleen	Spleen

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