Variant report

Variant	rs6131443
Chromosome Location	chr20:1365964-1365965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1364615..1368124-chr20:1371664..1375563,5	MCF-7	breast:
2	chr20:1355645..1357681-chr20:1363230..1365988,2	K562	blood:
3	chr20:1365067..1367909-chr20:1372196..1374972,3	K562	blood:
4	chr20:1305375..1307860-chr20:1363586..1366109,2	K562	blood:

Variant related genes	Relation type
ENSG00000088832	Chromatin interaction
ENSG00000125775	Chromatin interaction
ENSG00000234684	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11087049	0.90[AMR][1000 genomes]
rs12626072	0.90[AMR][1000 genomes]
rs56377442	0.86[AMR][1000 genomes]
rs6041880	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6041947	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6041970	0.90[AMR][1000 genomes]
rs6041971	0.90[AMR][1000 genomes]
rs6041976	0.90[AMR][1000 genomes]
rs6131424	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6134845	0.90[AMR][1000 genomes]
rs6134846	0.90[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1327600-1372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:1341400-1370600	Weak transcription	Hela-S3	cervix
4	chr20:1348000-1366800	Strong transcription	Dnd41	blood
5	chr20:1353200-1369400	Weak transcription	Brain Germinal Matrix	brain
6	chr20:1354400-1371200	Weak transcription	Fetal Brain Male	brain
7	chr20:1355400-1369000	Weak transcription	Fetal Brain Female	brain
8	chr20:1355600-1366400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:1355600-1369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:1356400-1369600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr20:1356600-1369800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:1356800-1369200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr20:1356800-1371800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:1357600-1369000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr20:1358000-1367000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr20:1358200-1369600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr20:1358400-1369800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr20:1358600-1366800	Weak transcription	Aorta	Aorta
19	chr20:1358600-1369800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:1358800-1370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:1359000-1366400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr20:1359000-1369000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr20:1359200-1369600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr20:1359600-1369800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr20:1360000-1369800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr20:1360000-1369800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr20:1360200-1366400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr20:1360600-1367200	Enhancers	Stomach Mucosa	stomach
29	chr20:1361200-1369000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr20:1361800-1367600	Enhancers	Adipose Nuclei	Adipose
31	chr20:1362000-1367400	Genic enhancers	Primary T cells from cord blood	blood
32	chr20:1362400-1369000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:1362600-1367400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:1362600-1367600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr20:1362800-1367000	Enhancers	Psoas Muscle	Psoas
36	chr20:1362800-1368000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr20:1362800-1368200	Enhancers	Right Ventricle	heart
38	chr20:1363000-1366400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
39	chr20:1363200-1366800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr20:1363200-1368600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr20:1363200-1369200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr20:1363400-1366800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr20:1363400-1370400	Weak transcription	Fetal Kidney	kidney
44	chr20:1363600-1367000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr20:1363600-1368000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr20:1363600-1369800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr20:1363600-1369800	Weak transcription	NH-A	brain
48	chr20:1363800-1366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:1363800-1366200	Weak transcription	HSMM	muscle
50	chr20:1363800-1366600	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links