Variant report

Variant	rs60805384
Chromosome Location	chr7:127569261-127569262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127560049..127563219-chr7:127566241..127571212,6	K562	blood:
2	chr7:127568808..127571707-chr7:127574376..127576396,4	K562	blood:
3	chr7:127568481..127572943-chr7:127573201..127576396,5	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs55673039	0.81[AFR][1000 genomes]
rs55820323	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55997549	0.81[AFR][1000 genomes]
rs56221924	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56258700	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347144	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57683992	0.81[AFR][1000 genomes]
rs57866092	0.81[AFR][1000 genomes]
rs58102896	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60776739	0.81[AFR][1000 genomes]
rs60865612	0.81[AFR][1000 genomes]
rs61165973	0.81[AFR][1000 genomes]
rs6951924	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956334	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956777	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966554	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6977011	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721003	0.81[AFR][1000 genomes]
rs73721004	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721005	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721006	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721007	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721009	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721011	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721012	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721015	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721017	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721018	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721020	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721021	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721023	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721024	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721025	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721026	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721029	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721262	0.87[AFR][1000 genomes]
rs73721265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721268	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721272	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721275	0.81[AFR][1000 genomes]
rs73721276	0.81[AFR][1000 genomes]
rs73721277	0.81[AFR][1000 genomes]
rs73721280	0.81[AFR][1000 genomes]
rs73721281	0.81[AFR][1000 genomes]
rs73721284	0.81[AFR][1000 genomes]
rs73721285	0.81[AFR][1000 genomes]
rs73721286	0.81[AFR][1000 genomes]
rs73721287	0.81[AFR][1000 genomes]
rs73721290	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723061	0.81[AFR][1000 genomes]
rs73723062	0.81[AFR][1000 genomes]
rs73723063	0.81[AFR][1000 genomes]
rs73723064	0.81[AFR][1000 genomes]
rs73723067	0.81[AFR][1000 genomes]
rs73723070	0.81[AFR][1000 genomes]
rs73723071	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
3	chr7:127547800-127569600	Weak transcription	A549	lung
4	chr7:127551200-127569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:127553800-127569400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:127558000-127569600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:127561800-127569600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:127562200-127569400	Weak transcription	Esophagus	oesophagus
9	chr7:127562200-127589800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:127562600-127569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:127563200-127569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:127565600-127569400	Weak transcription	HUVEC	blood vessel
13	chr7:127566800-127569400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:127567000-127574200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:127567200-127569800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:127567200-127571200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:127567400-127569400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:127567600-127569400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:127567600-127570400	Weak transcription	Fetal Kidney	kidney
20	chr7:127567600-127581400	Strong transcription	K562	blood
21	chr7:127567800-127569400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:127567800-127569400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:127567800-127569400	Weak transcription	Brain Substantia Nigra	brain
24	chr7:127567800-127569400	Weak transcription	NHLF	lung
25	chr7:127567800-127569600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:127567800-127569800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:127567800-127569800	Weak transcription	NHDF-Ad	bronchial
28	chr7:127567800-127571200	Weak transcription	Right Ventricle	heart
29	chr7:127567800-127571600	Weak transcription	Brain Anterior Caudate	brain
30	chr7:127567800-127571600	Weak transcription	Fetal Brain Female	brain
31	chr7:127567800-127573000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:127567800-127573400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:127567800-127577200	Weak transcription	Brain Hippocampus Middle	brain
34	chr7:127568000-127569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:127568000-127569400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:127568000-127569400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:127568000-127569400	Weak transcription	Fetal Intestine Large	intestine
38	chr7:127568000-127576200	Strong transcription	NHEK	skin
39	chr7:127568200-127569400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:127568200-127569400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:127568200-127569400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:127568200-127569400	Weak transcription	Fetal Intestine Small	intestine
43	chr7:127568200-127569400	Weak transcription	Fetal Lung	lung
44	chr7:127568200-127569800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:127568200-127577200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:127568200-127583400	Weak transcription	Fetal Heart	heart
47	chr7:127568200-127594000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:127568400-127569400	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:127568400-127570200	Weak transcription	Stomach Mucosa	stomach
50	chr7:127568400-127571400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links