Variant report

Variant	rs4957421
Chromosome Location	chr5:41788479-41788480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41785024..41790026-chr5:41792446..41797055,5	K562	blood:
2	chr5:41787205..41791185-chr5:41791548..41795054,4	K562	blood:

Variant related genes	Relation type
ENSG00000083720	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1035486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1355089	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1494392	0.97[AMR][1000 genomes]
rs1582539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16871938	1.00[AMR][1000 genomes]
rs16871940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17739462	1.00[AMR][1000 genomes]
rs17847285	1.00[AMR][1000 genomes]
rs1833818	0.94[AMR][1000 genomes]
rs2329815	1.00[AMR][1000 genomes]
rs3863161	0.82[AMR][1000 genomes]
rs3863162	0.82[AMR][1000 genomes]
rs3863163	0.82[AMR][1000 genomes]
rs4245982	0.91[AMR][1000 genomes]
rs4957160	0.97[AMR][1000 genomes]
rs4957161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957171	1.00[AMR][1000 genomes]
rs4957172	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957173	1.00[AMR][1000 genomes]
rs4957174	1.00[AMR][1000 genomes]
rs4957175	0.91[AMR][1000 genomes]
rs4957176	0.91[MEX][hapmap];0.94[AMR][1000 genomes]
rs4957177	0.91[MEX][hapmap];0.88[AMR][1000 genomes]
rs4957403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957422	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957423	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957425	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957428	1.00[AMR][1000 genomes]
rs4957429	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4957431	1.00[AMR][1000 genomes]
rs4957432	1.00[AMR][1000 genomes]
rs4957433	0.94[AMR][1000 genomes]
rs4957435	0.91[MEX][hapmap];0.88[AMR][1000 genomes]
rs4957439	0.88[AMR][1000 genomes]
rs6869822	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41731400-41800400	Weak transcription	Small Intestine	intestine
2	chr5:41735800-41800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:41739400-41788800	Weak transcription	Gastric	stomach
4	chr5:41739400-41790200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:41739400-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:41739600-41794800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:41749200-41797800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:41752000-41789400	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:41756200-41813800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:41759800-41800400	Weak transcription	Esophagus	oesophagus
11	chr5:41760600-41789400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:41761200-41798400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:41761600-41804600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:41761800-41795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:41762000-41799600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:41762200-41794200	Weak transcription	Adipose Nuclei	Adipose
17	chr5:41762400-41794400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:41763200-41788600	Weak transcription	NHLF	lung
19	chr5:41763800-41788600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:41763800-41793200	Weak transcription	NHEK	skin
21	chr5:41764000-41794600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:41764600-41788600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:41765000-41793000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:41765000-41793200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:41768800-41791000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:41770000-41794600	Weak transcription	Thymus	Thymus
27	chr5:41773200-41792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:41776000-41792600	Weak transcription	GM12878-XiMat	blood
29	chr5:41776000-41798200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:41776400-41793400	Weak transcription	Brain Angular Gyrus	brain
31	chr5:41778200-41838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:41779000-41795200	Weak transcription	Lung	lung
33	chr5:41780000-41800200	Weak transcription	Fetal Intestine Large	intestine
34	chr5:41782800-41792200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:41783600-41790200	Weak transcription	Psoas Muscle	Psoas
36	chr5:41783800-41790400	Weak transcription	Fetal Thymus	thymus
37	chr5:41784000-41795000	Weak transcription	Right Ventricle	heart
38	chr5:41784200-41793200	Weak transcription	HMEC	breast
39	chr5:41784600-41792400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:41784600-41794400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:41784800-41789600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:41784800-41791600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:41784800-41796200	Weak transcription	K562	blood
44	chr5:41785400-41792200	Weak transcription	Primary B cells from cord blood	blood
45	chr5:41785600-41794400	Weak transcription	Fetal Kidney	kidney
46	chr5:41785800-41790200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:41785800-41800000	Weak transcription	Fetal Brain Male	brain
48	chr5:41786200-41788600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:41786200-41788600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:41786200-41788600	Enhancers	Pancreatic Islets	Pancreatic Islet

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