Variant report

Variant	rs57926060
Chromosome Location	chr7:5666856-5666857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5661872..5664251-chr7:5664462..5667384,2	MCF-7	breast:
2	chr7:5665100..5667122-chr7:5668120..5670662,2	K562	blood:
3	chr7:5663444..5665689-chr7:5666174..5668112,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56984603	1.00[AMR][1000 genomes]
rs58090944	1.00[AMR][1000 genomes]
rs58158005	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58464539	1.00[AMR][1000 genomes]
rs60300172	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972718	1.00[AMR][1000 genomes]
rs73334470	1.00[AMR][1000 genomes]
rs73334479	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336234	1.00[AMR][1000 genomes]
rs73336241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338064	0.91[AFR][1000 genomes]
rs73673169	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
6	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
7	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
8	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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 miRNA target site	331 gene(s)	inside rSNPs	diseases
9	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
10	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
11	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
12	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
13	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
14	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
16	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
18	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
21	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
2	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
3	chr7:5650000-5669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:5655600-5673200	Weak transcription	Psoas Muscle	Psoas
5	chr7:5658600-5668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:5659000-5667200	Strong transcription	Liver	Liver
7	chr7:5659000-5667600	Strong transcription	Thymus	Thymus
8	chr7:5659000-5668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:5659000-5669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:5659000-5672800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:5659200-5673400	Strong transcription	Dnd41	blood
12	chr7:5659800-5667000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:5660200-5669200	Strong transcription	Primary T cells from cord blood	blood
14	chr7:5660400-5668000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:5660600-5667000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:5661000-5667000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:5661400-5667000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:5661400-5668000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:5661400-5669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:5661800-5673600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:5663000-5669400	Weak transcription	HUVEC	blood vessel
23	chr7:5663000-5673200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:5663000-5673200	Weak transcription	Stomach Mucosa	stomach
25	chr7:5663600-5669800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:5664200-5667000	Enhancers	NHDF-Ad	bronchial
27	chr7:5664200-5673600	Weak transcription	Colonic Mucosa	Colon
28	chr7:5664400-5669600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:5664600-5667800	Weak transcription	Fetal Intestine Large	intestine
30	chr7:5664600-5669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:5664600-5669600	Weak transcription	Brain Anterior Caudate	brain
32	chr7:5664600-5669800	Weak transcription	Brain Substantia Nigra	brain
33	chr7:5664600-5671400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:5664600-5673200	Weak transcription	Aorta	Aorta
35	chr7:5664600-5673400	Weak transcription	Small Intestine	intestine
36	chr7:5664800-5667000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:5664800-5669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:5664800-5669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:5664800-5671400	Weak transcription	Pancreas	Pancrea
40	chr7:5665000-5667000	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr7:5665000-5667000	Genic enhancers	K562	blood
42	chr7:5665000-5669600	Weak transcription	Fetal Brain Female	brain
43	chr7:5665000-5669600	Weak transcription	Left Ventricle	heart
44	chr7:5665000-5670800	Weak transcription	Fetal Lung	lung
45	chr7:5665000-5671600	Weak transcription	Esophagus	oesophagus
46	chr7:5665000-5673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:5665200-5669600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:5665200-5669600	Weak transcription	Spleen	Spleen
49	chr7:5665200-5671000	Weak transcription	Gastric	stomach
50	chr7:5665200-5671400	Weak transcription	Duodenum Mucosa	Duodenum

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