Variant report

Variant	rs6033645
Chromosome Location	chr20:1375577-1375578
allele	C/T
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	TAL1	chr20:1375505-1375659	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
2	chr20:1302236..1304059-chr20:1373953..1376855,2	MCF-7	breast:
3	chr20:1311170..1313178-chr20:1375067..1377982,2	MCF-7	breast:
4	chr20:1372232..1375944-chr20:1446656..1450761,3	MCF-7	breast:
5	chr20:1304653..1308515-chr20:1369739..1375969,7	MCF-7	breast:

Variant related genes	Relation type
FKBP1A	TF binding region
ENSG00000088833	Chromatin interaction
ENSG00000125775	Chromatin interaction
ENSG00000234684	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11087049	0.90[ASN][1000 genomes]
rs12626072	0.90[ASN][1000 genomes]
rs2092877	0.95[ASN][1000 genomes]
rs2092878	0.93[ASN][1000 genomes]
rs2092879	0.91[ASN][1000 genomes]
rs2092880	0.88[ASN][1000 genomes]
rs2317648	0.95[ASN][1000 genomes]
rs4239709	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4814222	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4814223	0.91[ASN][1000 genomes]
rs4814224	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56377442	0.84[ASN][1000 genomes]
rs6033666	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6033673	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6033674	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6033677	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6033678	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6041970	0.98[ASN][1000 genomes]
rs6041971	0.98[ASN][1000 genomes]
rs6041976	0.96[ASN][1000 genomes]
rs6042009	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6042018	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6042021	0.89[ASN][1000 genomes]
rs6042022	0.91[ASN][1000 genomes]
rs6042024	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6042026	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6109813	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6134845	0.91[ASN][1000 genomes]
rs6134846	0.91[ASN][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1374200-1376600	Enhancers	Lung	lung
2	chr20:1374400-1375800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr20:1374400-1376200	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:1374400-1377200	Enhancers	HUVEC	blood vessel
5	chr20:1374400-1377400	Enhancers	Primary hematopoietic stem cells	blood
6	chr20:1374400-1379600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr20:1374400-1381400	Weak transcription	Gastric	stomach
8	chr20:1374600-1375600	Weak transcription	Spleen	Spleen
9	chr20:1374600-1376000	Enhancers	Primary B cells from cord blood	blood
10	chr20:1374600-1377000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:1374600-1377400	Weak transcription	Fetal Thymus	thymus
12	chr20:1374600-1377600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:1374600-1378000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr20:1374600-1378600	Weak transcription	K562	blood
15	chr20:1374600-1378800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr20:1374600-1379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:1374600-1379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:1374600-1380000	Weak transcription	Liver	Liver
19	chr20:1374600-1380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr20:1374800-1377000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr20:1374800-1377400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr20:1374800-1379400	Weak transcription	Colonic Mucosa	Colon
23	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr20:1375000-1376000	Weak transcription	Dnd41	blood
26	chr20:1375000-1376800	Weak transcription	NHEK	skin
27	chr20:1375000-1377000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr20:1375000-1377000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr20:1375000-1377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr20:1375000-1377000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:1375000-1377000	Weak transcription	HMEC	breast
32	chr20:1375200-1379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:1375400-1379000	Enhancers	Primary neutrophils fromperipheralblood	blood

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