Variant report

Variant	rs569722243
Chromosome Location	chr6:25137777-25137778
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	POLR2A	chr6:25137735-25138940	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:25137762-25138962	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:25137737-25139277	GM12892	blood:	n/a	n/a
4	ATF2	chr6:25137739-25139485	GM12878	blood:	n/a	n/a
5	RELA	chr6:25137765-25139153	GM15510	blood:	n/a	n/a
6	NFIC	chr6:25137751-25139570	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:25137705-25138971	GM12892	blood:	n/a	n/a
8	POLR2A	chr6:25136835-25139403	GM12891	blood:	n/a	n/a
9	CEBPB	chr6:25137713-25139611	GM12878	blood:	n/a	n/a
10	RELA	chr6:25137773-25139379	GM19099	blood:	n/a	n/a
11	POLR2A	chr6:25137453-25139116	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:25136992-25139613	MCF10A-Er-Src	breast:	n/a	n/a
13	GATA1	chr6:25136718-25138791	PBDE	blood:	n/a	chr6:25137782-25137792
14	PML	chr6:25137629-25139385	GM12878	blood:	n/a	chr6:25137823-25137831 chr6:25139267-25139275
15	POLR2A	chr6:25137736-25139099	GM19193	blood:	n/a	n/a
16	POLR2A	chr6:25137724-25139403	GM18505	blood:	n/a	n/a
17	POLR2A	chr6:25136994-25139133	GM19099	blood:	n/a	n/a
18	POLR2A	chr6:25137754-25139347	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:25137736-25138951	PBDE	blood:	n/a	n/a
20	STAT3	chr6:25137751-25139674	MCF10A-Er-Src	breast:	n/a	chr6:25139524-25139538 chr6:25139527-25139536 chr6:25139363-25139371 chr6:25139366-25139389 chr6:25139526-25139535 chr6:25139188-25139199 chr6:25138559-25138566 chr6:25139182-25139193

Variant related genes	Relation type
ENSG00000219682	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv830611	chr6:25039374-25199112	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv470806	chr6:25082262-25156197	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv462662	chr6:25084718-25165486	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv601166	chr6:25084718-25165486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1798120	chr6:25136860-25149538	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1025694	chr6:25136860-25309450	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25123800-25138400	Weak transcription	Pancreas	Pancrea
2	chr6:25124400-25138200	Weak transcription	Spleen	Spleen
3	chr6:25133800-25138000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:25135200-25140200	Active TSS	Right Atrium	heart
5	chr6:25135400-25138200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:25136000-25137800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr6:25136000-25138800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr6:25136000-25139800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:25136200-25139000	Active TSS	Left Ventricle	heart
10	chr6:25136200-25139600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr6:25136200-25139800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:25136200-25140000	Active TSS	Aorta	Aorta
13	chr6:25136400-25138200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr6:25136400-25139200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr6:25136400-25139400	Active TSS	Brain Hippocampus Middle	brain
16	chr6:25136600-25137800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:25136600-25138000	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr6:25136600-25139400	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr6:25136600-25139600	Active TSS	Duodenum Mucosa	Duodenum
20	chr6:25136600-25140000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:25136800-25137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:25136800-25137800	Enhancers	Hela-S3	cervix
23	chr6:25136800-25138000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:25136800-25138000	Genic enhancers	Placenta	Placenta
25	chr6:25136800-25138200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr6:25136800-25138400	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr6:25136800-25138400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:25136800-25138800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:25136800-25138800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr6:25136800-25139000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr6:25136800-25139000	Flanking Active TSS	Liver	Liver
32	chr6:25136800-25139000	Flanking Active TSS	Osteobl	bone
33	chr6:25136800-25139400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr6:25136800-25139400	Active TSS	Brain Anterior Caudate	brain
35	chr6:25136800-25139400	Active TSS	Right Ventricle	heart
36	chr6:25136800-25140000	Active TSS	Ovary	ovary
37	chr6:25137000-25137800	Enhancers	HUVEC	blood vessel
38	chr6:25137000-25138000	Weak transcription	Fetal Lung	lung
39	chr6:25137000-25138200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr6:25137000-25138200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:25137000-25138200	Enhancers	Fetal Muscle Leg	muscle
42	chr6:25137000-25138200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
43	chr6:25137000-25138400	Enhancers	Fetal Stomach	stomach
44	chr6:25137000-25139000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:25137000-25139400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr6:25137000-25139400	Active TSS	Colonic Mucosa	Colon
47	chr6:25137000-25139400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr6:25137000-25139800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:25137000-25140200	Active TSS	Psoas Muscle	Psoas
50	chr6:25137200-25137800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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