Variant report

Variant	rs56333170
Chromosome Location	chr6:29598157-29598158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29598127-29598300	HUVEC	blood vessel:	n/a	n/a
2	MAZ	chr6:29598085-29598362	K562	blood:	n/a	n/a
3	POLR2A	chr6:29598104-29601707	K562	blood:	n/a	n/a
4	POLR2A	chr6:29598020-29598518	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29597090..29598941-chr6:30025217..30026901,2	K562	blood:
2	chr6:29576532..29579299-chr6:29597327..29599166,2	K562	blood:
3	chr6:29572757..29580903-chr6:29593317..29599166,10	K562	blood:
4	chr6:29595494..29598412-chr6:29717928..29720060,2	K562	blood:

No data

Variant related genes	Relation type
GABBR1	TF binding region
ENSG00000272236	Chromatin interaction
ENSG00000204681	Chromatin interaction
ENSG00000199290	Chromatin interaction
ENSG00000235821	Chromatin interaction
ENSG00000066379	Chromatin interaction
ENSG00000204623	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2076482	0.82[ASN][1000 genomes]
rs2076489	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9258000	0.82[ASN][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	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29593600-29598200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:29595000-29598400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:29596800-29598800	Enhancers	Fetal Brain Male	brain
4	chr6:29596800-29599200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr6:29596800-29600000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:29597000-29598200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:29597000-29598200	Weak transcription	Spleen	Spleen
8	chr6:29597000-29599000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:29597000-29599000	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:29597000-29599200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:29597000-29599200	Weak transcription	Esophagus	oesophagus
12	chr6:29597000-29599200	Weak transcription	Gastric	stomach
13	chr6:29597000-29599200	Weak transcription	Ovary	ovary
14	chr6:29597000-29599400	Weak transcription	Aorta	Aorta
15	chr6:29597000-29599600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:29597000-29599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:29597000-29599600	Weak transcription	Hela-S3	cervix
18	chr6:29597000-29599800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:29597000-29599800	Weak transcription	Pancreas	Pancrea
20	chr6:29597200-29598200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:29597200-29598200	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:29597200-29598200	Enhancers	HMEC	breast
23	chr6:29597200-29598600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:29597200-29598800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:29597200-29598800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr6:29597200-29599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:29597200-29599000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:29597200-29599000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:29597200-29599000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:29597200-29599000	Weak transcription	Fetal Lung	lung
31	chr6:29597200-29599000	Weak transcription	Fetal Stomach	stomach
32	chr6:29597200-29599000	Enhancers	HUVEC	blood vessel
33	chr6:29597200-29599200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:29597200-29599200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:29597200-29599200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:29597200-29599200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:29597200-29599200	Weak transcription	Brain Anterior Caudate	brain
38	chr6:29597200-29599200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:29597200-29599200	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:29597200-29599200	Weak transcription	Left Ventricle	heart
41	chr6:29597200-29599200	Weak transcription	Lung	lung
42	chr6:29597200-29599200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:29597200-29599200	Weak transcription	NHLF	lung
44	chr6:29597200-29599400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:29597200-29599400	Weak transcription	Brain Angular Gyrus	brain
46	chr6:29597200-29599400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:29597200-29599400	Weak transcription	Fetal Heart	heart
48	chr6:29597200-29599400	Weak transcription	Right Ventricle	heart
49	chr6:29597400-29598400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr6:29597400-29598400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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