Variant report

Variant	rs74127530
Chromosome Location	chr1:151109326-151109327
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151097101..151099997-chr1:151109204..151110916,2	MCF-7	breast:
2	chr1:151105843..151108577-chr1:151108858..151111748,2	MCF-7	breast:
3	chr1:151104790..151107252-chr1:151107376..151109485,2	K562	blood:
4	chr1:151030480..151033086-chr1:151108793..151110425,2	K562	blood:
5	chr1:151106109..151110392-chr1:151117941..151122227,5	K562	blood:

Variant related genes	Relation type
ENSG00000197622	Chromatin interaction
ENSG00000143434	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs41299635	1.00[AMR][1000 genomes]
rs41310891	1.00[AMR][1000 genomes]
rs55716130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55935377	1.00[AMR][1000 genomes]
rs57330524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58618837	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58763463	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59737164	1.00[AMR][1000 genomes]
rs60636837	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60865304	1.00[AMR][1000 genomes]
rs74125051	1.00[AMR][1000 genomes]
rs74125053	1.00[AMR][1000 genomes]
rs74125059	1.00[AMR][1000 genomes]
rs74125062	1.00[AMR][1000 genomes]
rs74125063	1.00[AMR][1000 genomes]
rs74125065	1.00[AMR][1000 genomes]
rs74125077	1.00[AMR][1000 genomes]
rs74125079	1.00[AMR][1000 genomes]
rs74125080	1.00[AMR][1000 genomes]
rs74125087	1.00[AMR][1000 genomes]
rs74125088	1.00[AMR][1000 genomes]
rs74125091	0.87[AFR][1000 genomes]
rs74125093	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127505	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127513	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127535	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127539	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127540	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv872422	chr1:151098077-151115186	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv872423	chr1:151100612-151115997	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151079800-151114800	Weak transcription	HSMM	muscle
2	chr1:151104000-151114800	Weak transcription	Psoas Muscle	Psoas
3	chr1:151104400-151110400	Weak transcription	NHLF	lung
4	chr1:151104400-151111200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:151104400-151116600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:151104400-151117000	Weak transcription	Fetal Kidney	kidney
7	chr1:151104400-151118000	Weak transcription	Aorta	Aorta
8	chr1:151104600-151117400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:151104600-151118200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:151104800-151115600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:151105000-151114800	Strong transcription	Fetal Brain Female	brain
12	chr1:151105000-151114800	Weak transcription	Right Atrium	heart
13	chr1:151105000-151115400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:151105000-151115600	Weak transcription	Fetal Thymus	thymus
15	chr1:151105200-151115200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:151105200-151115400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:151105200-151117000	Weak transcription	Placenta	Placenta
18	chr1:151105400-151117000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:151105600-151112800	Strong transcription	Left Ventricle	heart
20	chr1:151105600-151114800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:151105600-151115800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:151105600-151118000	Weak transcription	Gastric	stomach
23	chr1:151105800-151113000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:151105800-151115600	Weak transcription	Thymus	Thymus
25	chr1:151105800-151117200	Weak transcription	Spleen	Spleen
26	chr1:151106000-151111000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:151106000-151112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:151106000-151113200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:151106000-151113200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:151106000-151113400	Strong transcription	Fetal Intestine Large	intestine
31	chr1:151106000-151114800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:151106000-151115000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:151106200-151110600	Strong transcription	HSMMtube	muscle
34	chr1:151106200-151110800	Strong transcription	Brain Hippocampus Middle	brain
35	chr1:151106200-151110800	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr1:151106200-151113000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:151106200-151113000	Strong transcription	Fetal Lung	lung
38	chr1:151106200-151116000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:151106600-151109400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:151106600-151109600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:151106600-151109600	Strong transcription	Brain Cingulate Gyrus	brain
42	chr1:151106600-151110200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:151106600-151111000	Strong transcription	Brain Anterior Caudate	brain
44	chr1:151106600-151112600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr1:151106600-151115400	Strong transcription	Fetal Stomach	stomach
46	chr1:151106600-151116000	Strong transcription	Fetal Intestine Small	intestine
47	chr1:151106800-151110400	Strong transcription	Brain Angular Gyrus	brain
48	chr1:151106800-151110800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:151106800-151113000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:151106800-151113000	Strong transcription	Adipose Nuclei	Adipose

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