Variant report

Variant	rs58283032
Chromosome Location	chr6:33262565-33262566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33262513-33262616	MCF-7	breast:	n/a	n/a
2	POLR2A	chr6:33262554-33262700	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:33262224-33262641	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:33262429-33262597	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:33262388-33262649	MCF-7	breast:	n/a	n/a
6	POLR2A	chr6:33262452-33262567	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:33262530-33262974	K562	blood:	n/a	n/a
8	POLR2A	chr6:33256842-33262829	K562	blood:	n/a	n/a
9	POLR2A	chr6:33262257-33264235	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33166993..33169649-chr6:33261655..33263875,2	K562	blood:
2	chr6:33259755..33275794-chr6:33276314..33291745,68	MCF-7	breast:
3	chr6:33261265..33262842-chr6:33377823..33379768,2	K562	blood:
4	chr6:33261946..33266253-chr6:33371455..33374620,4	K562	blood:
5	chr6:33261342..33263204-chr6:33376924..33379323,2	K562	blood:

No data

Variant related genes	Relation type
RGL2	TF binding region
ENSG00000236104	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000112511	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56999860	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58883992	0.81[AFR][1000 genomes]
rs59097151	0.81[AFR][1000 genomes]
rs60170976	0.81[AFR][1000 genomes]
rs73410003	0.83[AFR][1000 genomes]
rs73410010	0.83[AFR][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	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33258200-33264800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:33258200-33265000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:33258200-33265200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:33258400-33264600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:33258400-33264800	Weak transcription	Stomach Mucosa	stomach
6	chr6:33258400-33265000	Weak transcription	Right Atrium	heart
7	chr6:33258600-33263400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:33258600-33263800	Strong transcription	Fetal Thymus	thymus
9	chr6:33258600-33264400	Weak transcription	Fetal Heart	heart
10	chr6:33258600-33264400	Strong transcription	Fetal Intestine Large	intestine
11	chr6:33258600-33264600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:33258600-33264600	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr6:33258600-33264800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:33258600-33264800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:33258600-33264800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:33258600-33264800	Strong transcription	Brain Hippocampus Middle	brain
17	chr6:33258600-33264800	Strong transcription	Fetal Muscle Leg	muscle
18	chr6:33258600-33264800	Strong transcription	Lung	lung
19	chr6:33258600-33264800	Weak transcription	A549	lung
20	chr6:33258800-33262800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:33258800-33263600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:33258800-33263800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:33258800-33263800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr6:33258800-33263800	Strong transcription	Fetal Brain Female	brain
25	chr6:33258800-33264200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr6:33258800-33264200	Strong transcription	Adipose Nuclei	Adipose
27	chr6:33258800-33264400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr6:33258800-33264400	Strong transcription	Ovary	ovary
29	chr6:33258800-33264400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:33258800-33264400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr6:33258800-33264600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:33258800-33264600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:33258800-33264600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:33258800-33264600	Strong transcription	Brain Anterior Caudate	brain
35	chr6:33258800-33264600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:33258800-33264600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:33258800-33264600	Strong transcription	NHLF	lung
38	chr6:33258800-33264800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:33258800-33264800	Strong transcription	Primary B cells from cord blood	blood
40	chr6:33258800-33264800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:33258800-33264800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:33258800-33264800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:33258800-33264800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:33258800-33264800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr6:33259000-33263200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:33259000-33263600	Strong transcription	Liver	Liver
47	chr6:33259000-33263800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:33259000-33263800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr6:33259000-33264200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr6:33259000-33264200	Strong transcription	Colonic Mucosa	Colon

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