Variant report

Variant	rs547481626
Chromosome Location	chr9:2013926-2013927
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	CEBPB	chr9:2013900-2014104	HepG2	liver:	n/a	chr9:2013965-2013976 chr9:2013966-2013975 chr9:2013966-2013975
2	FOS	chr9:2013735-2014155	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr9:2013792-2014126	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr9:2013752-2014128	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr9:2013839-2014115	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr9:2013794-2014125	K562	blood:	n/a	chr9:2013965-2013976 chr9:2013966-2013975 chr9:2013966-2013975
7	POLR2A	chr9:2013421-2019552	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:2013483-2019507	GM12891	blood:	n/a	n/a
9	STAT3	chr9:2013731-2014087	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr9:2013794-2014089	A549	lung:	n/a	chr9:2013965-2013976 chr9:2013966-2013975 chr9:2013966-2013975
11	CTCF	chr9:2013780-2013930	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr9:2013860-2014010	AG10803	skin:	n/a	n/a
13	E2F4	chr9:2013875-2014245	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr9:2013777-2014109	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr9:2013782-2013982	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr9:2013694-2014175	MCF10A-Er-Src	breast:	n/a	n/a
17	MXI1	chr9:2013524-2018820	IMR90	lung:	n/a	n/a
18	CEBPB	chr9:2013691-2014138	IMR90	lung:	n/a	chr9:2013965-2013976 chr9:2013966-2013975 chr9:2013966-2013975
19	FOS	chr9:2013760-2014132	MCF10A-Er-Src	breast:	n/a	n/a
20	MXI1	chr9:2013880-2018757	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr9:2013683-2014155	Hela-S3	cervix:	n/a	chr9:2013965-2013976 chr9:2013966-2013975 chr9:2013966-2013975
22	CTCF	chr9:2013800-2013950	BJ	skin:	n/a	n/a
23	POLR2A	chr9:2013897-2014411	GM12892	blood:	n/a	n/a
24	STAT3	chr9:2013811-2014089	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr9:2013926-2018823	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:2009046..2010738-chr9:2013715..2015276,2	K562	blood:
2	chr9:2006922..2009253-chr9:2013169..2015088,2	MCF-7	breast:
3	chr9:2013479..2017608-chr9:2017826..2022083,7	MCF-7	breast:
4	chr9:1981753..1984012-chr9:2012148..2014267,2	K562	blood:
5	chr9:2012580..2014743-chr9:2038420..2041072,2	K562	blood:

Variant related genes	Relation type
SMARCA2	TF binding region
ENSG00000080503	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv831493	chr9:1885733-2074135	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv892047	chr9:1888703-2018825	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892048	chr9:1888703-2177391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1021158	chr9:1963930-2040728	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
10	nsv892052	chr9:1980819-2072470	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2830420	chr9:1998911-2119702	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
12	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv613079	chr9:2012767-2059341	Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2005800-2014200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:2011600-2014600	Weak transcription	Lung	lung
3	chr9:2012000-2014200	Flanking Active TSS	GM12878-XiMat	blood
4	chr9:2012600-2014000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr9:2012800-2014200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:2012800-2014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:2012800-2014200	Enhancers	K562	blood
8	chr9:2013400-2014000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:2013400-2014000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr9:2013400-2014000	Enhancers	Adipose Nuclei	Adipose
11	chr9:2013400-2014400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:2013600-2014000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:2013600-2014000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:2013600-2014000	Enhancers	Primary hematopoietic stem cells	blood
15	chr9:2013600-2014000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr9:2013600-2014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:2013600-2014000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:2013600-2014000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:2013600-2014000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:2013600-2014000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:2013600-2014000	Enhancers	Liver	Liver
22	chr9:2013600-2014000	Enhancers	Brain Angular Gyrus	brain
23	chr9:2013600-2014000	Enhancers	Brain Anterior Caudate	brain
24	chr9:2013600-2014000	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:2013600-2014000	Enhancers	Brain Germinal Matrix	brain
26	chr9:2013600-2014000	Enhancers	Brain Hippocampus Middle	brain
27	chr9:2013600-2014000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr9:2013600-2014000	Enhancers	Fetal Lung	lung
29	chr9:2013600-2014000	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:2013600-2014000	Enhancers	Fetal Muscle Leg	muscle
31	chr9:2013600-2014000	Enhancers	Left Ventricle	heart
32	chr9:2013600-2014000	Enhancers	Ovary	ovary
33	chr9:2013600-2014000	Enhancers	Psoas Muscle	Psoas
34	chr9:2013600-2014000	Enhancers	Right Atrium	heart
35	chr9:2013600-2014000	Enhancers	Right Ventricle	heart
36	chr9:2013600-2014000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr9:2013600-2014000	Enhancers	NHEK	skin
38	chr9:2013600-2014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:2013600-2014200	Enhancers	Fetal Brain Male	brain
40	chr9:2013600-2014200	Enhancers	Fetal Heart	heart
41	chr9:2013600-2014200	Enhancers	Placenta	Placenta
42	chr9:2013600-2014200	Enhancers	Rectal Smooth Muscle	rectum
43	chr9:2013600-2014200	Enhancers	HSMM	muscle
44	chr9:2013600-2014400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:2013600-2014600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr9:2013600-2014600	Flanking Active TSS	Osteobl	bone
47	chr9:2013600-2017800	Active TSS	Stomach Smooth Muscle	stomach
48	chr9:2013800-2014000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr9:2013800-2014000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:2013800-2014000	Enhancers	Primary T cells from cord blood	blood

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