Variant report

Variant	rs5745579
Chromosome Location	chr6:33546995-33546996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33544423-33548349	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:33546961-33547250	GM12878	blood:	n/a	n/a
3	PAX5	chr6:33546971-33547273	GM12878	blood:	n/a	n/a
4	CEBPB	chr6:33546950-33547246	K562	blood:	n/a	n/a
5	POLR2A	chr6:33546173-33547098	GM12878	blood:	n/a	n/a
6	RUNX3	chr6:33546889-33547469	GM12878	blood:	n/a	n/a
7	ELF1	chr6:33546267-33546996	GM12878	blood:	n/a	n/a
8	PAX5	chr6:33546943-33547365	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33381203..33384118-chr6:33546265..33549089,2	K562	blood:
2	chr6:33391848..33395045-chr6:33544542..33547433,3	MCF-7	breast:
3	chr6:33545816..33547496-chr6:33675270..33677360,2	K562	blood:
4	chr6:33420831..33423204-chr6:33545367..33547352,2	MCF-7	breast:
5	chr6:33546298..33549471-chr6:33550091..33553469,5	K562	blood:
6	chr6:33541749..33544429-chr6:33546198..33547784,2	MCF-7	breast:
7	chr6:33420326..33423381-chr6:33545501..33547721,3	MCF-7	breast:
8	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:

No data

Variant related genes	Relation type
GGNBP1	TF binding region
ENSG00000204188	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000112511	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11964131	1.00[AMR][1000 genomes]
rs3846856	1.00[AMR][1000 genomes]
rs3846857	1.00[AMR][1000 genomes]
rs3846858	1.00[AMR][1000 genomes]
rs3846859	1.00[AMR][1000 genomes]
rs3857560	1.00[AMR][1000 genomes]
rs4460206	1.00[AMR][1000 genomes]
rs5745578	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5745580	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5745597	1.00[AMR][1000 genomes]
rs60691479	1.00[AMR][1000 genomes]
rs6903143	1.00[AMR][1000 genomes]
rs6909769	1.00[AMR][1000 genomes]
rs6928531	1.00[AMR][1000 genomes]
rs7744691	1.00[AMR][1000 genomes]
rs7761085	1.00[AMR][1000 genomes]
rs7762586	1.00[AMR][1000 genomes]
rs7765464	1.00[AMR][1000 genomes]
rs7769914	1.00[AMR][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	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr6:33539200-33547200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:33539600-33547000	Weak transcription	Fetal Kidney	kidney
3	chr6:33539800-33547000	Weak transcription	Psoas Muscle	Psoas
4	chr6:33543400-33547000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:33543400-33547200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:33543600-33547200	Weak transcription	HSMMtube	muscle
7	chr6:33544000-33547200	Weak transcription	Ovary	ovary
8	chr6:33544400-33547000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:33544600-33547400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr6:33544600-33547600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:33544800-33548000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:33545200-33547000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:33545200-33547200	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:33545400-33547200	Weak transcription	Aorta	Aorta
15	chr6:33545400-33547200	Enhancers	Pancreas	Pancrea
16	chr6:33545400-33547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:33545600-33547000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:33545600-33547600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr6:33545600-33548200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr6:33545800-33547000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr6:33545800-33547000	Flanking Active TSS	Esophagus	oesophagus
22	chr6:33545800-33547600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr6:33545800-33547800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr6:33546000-33547000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:33546000-33547000	Enhancers	Brain Germinal Matrix	brain
26	chr6:33546000-33547000	Enhancers	Fetal Brain Female	brain
27	chr6:33546000-33547200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:33546000-33547200	Enhancers	Fetal Heart	heart
29	chr6:33546000-33547400	Flanking Active TSS	Fetal Thymus	thymus
30	chr6:33546000-33547600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr6:33546000-33548000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:33546000-33548200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr6:33546000-33548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:33546000-33548400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr6:33546200-33547000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:33546200-33547000	Flanking Active TSS	Thymus	Thymus
38	chr6:33546200-33547000	Flanking Active TSS	Hela-S3	cervix
39	chr6:33546200-33547200	Enhancers	Brain Substantia Nigra	brain
40	chr6:33546200-33547200	Flanking Active TSS	HepG2	liver
41	chr6:33546200-33547400	Flanking Active TSS	Right Ventricle	heart
42	chr6:33546200-33547600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:33546200-33547800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:33546200-33547800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:33546200-33548000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:33546200-33548000	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr6:33546200-33548000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:33546200-33548000	Active TSS	Small Intestine	intestine
49	chr6:33546200-33548200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:33546200-33548200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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