Variant report

Variant	rs6131424
Chromosome Location	chr20:1355701-1355702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:1350415-1355723	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1352245..1354904-chr20:1355526..1357466,3	K562	blood:
2	chr20:1343934..1346558-chr20:1353759..1356029,2	MCF-7	breast:

Variant related genes	Relation type
FKBP1A	TF binding region
ENSG00000088832	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	0.86[AMR][1000 genomes]
rs12626072	0.86[AMR][1000 genomes]
rs56377442	0.81[AMR][1000 genomes]
rs6041880	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6041947	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6041970	0.86[AMR][1000 genomes]
rs6041971	0.86[AMR][1000 genomes]
rs6041976	0.86[AMR][1000 genomes]
rs6131443	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6134845	0.86[AMR][1000 genomes]
rs6134846	0.86[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:127 , 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	chr20:1331600-1358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr20:1336200-1361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:1341400-1370600	Weak transcription	Hela-S3	cervix
6	chr20:1345600-1358000	Weak transcription	Stomach Mucosa	stomach
7	chr20:1345800-1356400	Strong transcription	Fetal Thymus	thymus
8	chr20:1346200-1356800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr20:1346600-1356800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:1347600-1356400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:1347600-1359000	Strong transcription	Fetal Stomach	stomach
12	chr20:1347800-1355800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr20:1347800-1357800	Strong transcription	HepG2	liver
14	chr20:1348000-1356200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr20:1348000-1356400	Strong transcription	Primary B cells from cord blood	blood
16	chr20:1348000-1356600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr20:1348000-1357000	Strong transcription	Thymus	Thymus
18	chr20:1348000-1366800	Strong transcription	Dnd41	blood
19	chr20:1348200-1356000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:1348400-1356200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:1348400-1356400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr20:1349000-1362800	Weak transcription	Fetal Kidney	kidney
23	chr20:1349400-1356200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
24	chr20:1349600-1356200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:1349800-1356600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr20:1349800-1357600	Weak transcription	Small Intestine	intestine
27	chr20:1350400-1356000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr20:1350400-1356200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr20:1350600-1356800	Genic enhancers	Left Ventricle	heart
30	chr20:1350600-1357000	Enhancers	Brain Substantia Nigra	brain
31	chr20:1350800-1356000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr20:1351000-1356800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr20:1351000-1359200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr20:1351800-1356000	Strong transcription	A549	lung
35	chr20:1351800-1358200	Weak transcription	Aorta	Aorta
36	chr20:1352000-1356400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr20:1352000-1357200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:1352200-1356200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr20:1352200-1356200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr20:1352400-1356000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr20:1352400-1356800	Weak transcription	Colon Smooth Muscle	Colon
42	chr20:1353000-1357000	Strong transcription	K562	blood
43	chr20:1353200-1355800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr20:1353200-1356000	Strong transcription	Placenta	Placenta
45	chr20:1353200-1356200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr20:1353200-1356200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr20:1353200-1356400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr20:1353200-1356400	Weak transcription	Colonic Mucosa	Colon
49	chr20:1353200-1358000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr20:1353200-1369400	Weak transcription	Brain Germinal Matrix	brain

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