Variant report

Variant	rs572059920
Chromosome Location	chr6:26367897-26367898
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	RFX5	chr6:26362934-26367943	SK-N-SH	brain:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26367464..26368980-chr6:26371465..26374383,2	K562	blood:

Variant related genes	Relation type
ENSG00000215979	TF binding region
BTN3A2	TF binding region
ENSG00000186470	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak 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	49 gene(s)	inside rSNPs	diseases
6	nsv883491	chr6:26367689-26410800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv883492	chr6:26367689-26436592	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv883493	chr6:26367689-26442786	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv883494	chr6:26367833-26442786	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv883495	chr6:26367833-26443853	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3334611	chr6:26367893-26443308	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26365800-26375200	Weak transcription	Aorta	Aorta
2	chr6:26366000-26368800	Weak transcription	Fetal Stomach	stomach
3	chr6:26366000-26369400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:26366000-26369400	Weak transcription	Fetal Lung	lung
5	chr6:26366000-26369400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:26366000-26369400	Weak transcription	Lung	lung
7	chr6:26366000-26369400	Weak transcription	Ovary	ovary
8	chr6:26366000-26369800	Weak transcription	Brain Angular Gyrus	brain
9	chr6:26366000-26369800	Weak transcription	Brain Substantia Nigra	brain
10	chr6:26366000-26373200	Weak transcription	Colonic Mucosa	Colon
11	chr6:26366000-26373800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:26366000-26374800	Weak transcription	Esophagus	oesophagus
13	chr6:26366000-26375000	Weak transcription	Brain Anterior Caudate	brain
14	chr6:26366000-26375600	Weak transcription	Gastric	stomach
15	chr6:26366000-26382600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:26366000-26383000	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:26366000-26383200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:26366000-26383200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:26366000-26383200	Weak transcription	Pancreas	Pancrea
20	chr6:26366000-26383200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:26366000-26383200	Weak transcription	HSMMtube	muscle
22	chr6:26366000-26383400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:26366200-26369400	Weak transcription	Placenta	Placenta
24	chr6:26366200-26371200	Weak transcription	A549	lung
25	chr6:26366200-26374600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:26366200-26374800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:26366200-26375000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:26366200-26375200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:26366200-26375800	Weak transcription	NH-A	brain
30	chr6:26366200-26382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:26366200-26383200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:26366200-26383200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:26366400-26368000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:26366400-26372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:26366800-26368200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:26367000-26369200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:26367000-26369400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:26367000-26370200	Weak transcription	Right Ventricle	heart
39	chr6:26367000-26374400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:26367000-26377800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:26367000-26383000	Weak transcription	NHEK	skin
42	chr6:26367000-26383200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:26367200-26368000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:26367200-26369400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:26367200-26369400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:26367200-26369400	Weak transcription	Fetal Intestine Large	intestine
47	chr6:26367200-26369400	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:26367200-26369400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:26367200-26370600	Weak transcription	Fetal Intestine Small	intestine
50	chr6:26367200-26371600	Weak transcription	Stomach Mucosa	stomach

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