Variant report

Variant	rs566973404
Chromosome Location	chr9:72086728-72086729
allele	G/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	chr9:72086430-72086800	MCF10A-Er-Src	breast:	n/a	n/a
2	NFIC	chr9:72086241-72086856	SK-N-SH	brain:	n/a	n/a
3	FOS	chr9:72086368-72086728	MCF10A-Er-Src	breast:	n/a	chr9:72086534-72086544 chr9:72086533-72086545 chr9:72086534-72086544 chr9:72086535-72086542 chr9:72086534-72086544 chr9:72086533-72086544 chr9:72086535-72086543 chr9:72086535-72086543
4	NFIC	chr9:72086338-72086868	ECC-1	luminal epithelium:	n/a	n/a
5	FOS	chr9:72086358-72086899	MCF10A-Er-Src	breast:	n/a	chr9:72086534-72086544 chr9:72086533-72086545 chr9:72086534-72086544 chr9:72086535-72086542 chr9:72086534-72086544 chr9:72086533-72086544 chr9:72086535-72086543 chr9:72086535-72086543
6	STAT3	chr9:72086638-72086858	MCF10A-Er-Src	breast:	n/a	n/a
7	FOSL2	chr9:72086259-72086774	SK-N-SH	brain:	n/a	chr9:72086534-72086544 chr9:72086533-72086545 chr9:72086534-72086544 chr9:72086535-72086542 chr9:72086534-72086544 chr9:72086535-72086543 chr9:72086535-72086543
8	FOS	chr9:72086364-72086895	MCF10A-Er-Src	breast:	n/a	chr9:72086534-72086544 chr9:72086533-72086545 chr9:72086534-72086544 chr9:72086535-72086542 chr9:72086534-72086544 chr9:72086533-72086544 chr9:72086535-72086543 chr9:72086535-72086543

Variant related genes	Relation type
APBA1	TF binding region
ENSG00000229312	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1037109	chr9:72040184-72120270	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv430067	chr9:72080989-72116806	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1037298	chr9:72085974-72118434	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72077200-72086800	Weak transcription	Fetal Brain Male	brain
2	chr9:72079000-72091600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:72080400-72089400	Weak transcription	Fetal Thymus	thymus
4	chr9:72081200-72087000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:72081600-72090600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:72082000-72091000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:72082200-72090600	Weak transcription	Fetal Lung	lung
8	chr9:72082200-72091000	Weak transcription	Fetal Stomach	stomach
9	chr9:72082400-72090200	Weak transcription	Spleen	Spleen
10	chr9:72082400-72091200	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:72082800-72088000	Enhancers	Liver	Liver
12	chr9:72082800-72091000	Weak transcription	Esophagus	oesophagus
13	chr9:72082800-72091400	Weak transcription	Brain Germinal Matrix	brain
14	chr9:72083000-72087800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:72083000-72088200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:72083000-72089800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr9:72083000-72091000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:72083200-72087200	Weak transcription	Brain Angular Gyrus	brain
19	chr9:72084400-72087000	Enhancers	Stomach Mucosa	stomach
20	chr9:72084400-72087600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr9:72085000-72086800	Enhancers	Duodenum Mucosa	Duodenum
22	chr9:72085600-72087600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:72085600-72088000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr9:72085800-72087200	Enhancers	HUVEC	blood vessel
25	chr9:72086000-72087000	Weak transcription	Fetal Intestine Small	intestine
26	chr9:72086000-72088800	Weak transcription	Aorta	Aorta
27	chr9:72086000-72089000	Weak transcription	Ovary	ovary
28	chr9:72086000-72089400	Weak transcription	Pancreas	Pancrea
29	chr9:72086000-72090000	Weak transcription	Gastric	stomach
30	chr9:72086200-72086800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:72086200-72087400	Weak transcription	Fetal Intestine Large	intestine
32	chr9:72086200-72087800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:72086200-72087800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr9:72086400-72087400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr9:72086400-72087600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:72086400-72087600	Weak transcription	Small Intestine	intestine
37	chr9:72086400-72090800	Weak transcription	Brain Anterior Caudate	brain
38	chr9:72086600-72086800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:72086600-72088200	Enhancers	Fetal Brain Female	brain
40	chr9:72086600-72091400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:72086600-72091800	Weak transcription	H9 Cell Line	embryonic stem cell

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