Variant report

Variant	rs72671621
Chromosome Location	chr1:67190274-67190275
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67166132..67168879-chr1:67189803..67192452,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1032634	1.00[ASN][1000 genomes]
rs1032635	1.00[ASN][1000 genomes]
rs1280280	1.00[ASN][1000 genomes]
rs1280310	1.00[ASN][1000 genomes]
rs17129365	0.94[EUR][1000 genomes]
rs17440989	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17492182	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146904	1.00[ASN][1000 genomes]
rs2483704	1.00[ASN][1000 genomes]
rs2483705	1.00[ASN][1000 genomes]
rs2916	1.00[ASN][1000 genomes]
rs481681	1.00[ASN][1000 genomes]
rs485521	1.00[ASN][1000 genomes]
rs485543	1.00[ASN][1000 genomes]
rs492109	1.00[ASN][1000 genomes]
rs499263	1.00[ASN][1000 genomes]
rs502690	1.00[ASN][1000 genomes]
rs515944	1.00[ASN][1000 genomes]
rs523132	1.00[ASN][1000 genomes]
rs523188	1.00[ASN][1000 genomes]
rs523956	1.00[ASN][1000 genomes]
rs524114	1.00[ASN][1000 genomes]
rs532564	1.00[ASN][1000 genomes]
rs536410	1.00[ASN][1000 genomes]
rs536527	1.00[ASN][1000 genomes]
rs539014	1.00[ASN][1000 genomes]
rs544258	1.00[ASN][1000 genomes]
rs602513	1.00[ASN][1000 genomes]
rs618093	1.00[ASN][1000 genomes]
rs628655	1.00[ASN][1000 genomes]
rs659291	1.00[ASN][1000 genomes]
rs665319	1.00[ASN][1000 genomes]
rs6668603	1.00[ASN][1000 genomes]
rs688630	1.00[ASN][1000 genomes]
rs693272	1.00[ASN][1000 genomes]
rs72669468	0.82[AMR][1000 genomes]
rs72669501	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72922021	1.00[ASN][1000 genomes]
rs7515848	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554101	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv997677	chr1:67186675-67194280	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67156800-67191400	Weak transcription	Fetal Brain Female	brain
2	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:67157400-67191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:67158400-67191400	Weak transcription	Left Ventricle	heart
5	chr1:67165200-67191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:67165400-67191600	Weak transcription	Aorta	Aorta
7	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
8	chr1:67171400-67198000	Weak transcription	NHLF	lung
9	chr1:67179600-67191400	Weak transcription	NHDF-Ad	bronchial
10	chr1:67181200-67191200	Weak transcription	Brain Substantia Nigra	brain
11	chr1:67184800-67199400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:67185400-67191200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:67186000-67190600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:67186400-67205000	Weak transcription	Fetal Heart	heart
15	chr1:67188200-67191200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:67188400-67191400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:67188600-67191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:67189400-67190400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:67189400-67190400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:67189400-67190400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:67189400-67192200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:67189600-67190600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:67189600-67190800	Enhancers	Osteobl	bone
25	chr1:67189600-67192200	Enhancers	Brain Hippocampus Middle	brain
26	chr1:67189800-67190600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:67189800-67190800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:67190000-67190800	Enhancers	Brain Anterior Caudate	brain
29	chr1:67190000-67191600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:67190000-67193800	Weak transcription	NH-A	brain
31	chr1:67190200-67190600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:67190200-67201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links