Variant report

Variant	rs528262498
Chromosome Location	chr9:14347972-14347973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS 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	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892599	chr9:14310504-14350469	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv523410	chr9:14344888-14348563	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv527980	chr9:14345605-14348563	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv526315	chr9:14347811-14362390	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14343800-14350800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:14343800-14351000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:14344000-14348600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr9:14344000-14349200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr9:14344200-14348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr9:14344600-14350800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr9:14345000-14349000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:14345000-14349000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr9:14345400-14350000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:14345600-14349000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr9:14345600-14351000	Active TSS	Right Atrium	heart
12	chr9:14345800-14348000	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr9:14345800-14348200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:14345800-14349000	Bivalent Enhancer	Fetal Thymus	thymus
15	chr9:14345800-14350000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
16	chr9:14345800-14350200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr9:14346000-14348200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:14346000-14348200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr9:14346000-14348400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:14346000-14349000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr9:14346000-14350000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr9:14346200-14348000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:14346200-14350400	Active TSS	Brain Substantia Nigra	brain
24	chr9:14346200-14350800	Active TSS	Brain Hippocampus Middle	brain
25	chr9:14346400-14348400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr9:14346400-14349400	Active TSS	Esophagus	oesophagus
27	chr9:14346600-14348000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:14346600-14348000	Bivalent/Poised TSS	NHLF	lung
29	chr9:14346600-14348200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr9:14346600-14349000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr9:14346600-14350000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
32	chr9:14346600-14350600	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr9:14346600-14350800	Active TSS	Psoas Muscle	Psoas
34	chr9:14346800-14348600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
35	chr9:14346800-14349800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:14346800-14349800	Flanking Active TSS	HUVEC	blood vessel
37	chr9:14346800-14350200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr9:14346800-14351000	Active TSS	Aorta	Aorta
39	chr9:14347000-14348000	Flanking Active TSS	Liver	Liver
40	chr9:14347000-14348200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:14347000-14348200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:14347000-14348400	Active TSS	Fetal Heart	heart
43	chr9:14347000-14348400	Bivalent/Poised TSS	Placenta	Placenta
44	chr9:14347000-14348600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr9:14347000-14348600	Active TSS	Fetal Brain Female	brain
46	chr9:14347000-14348800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr9:14347000-14349200	Active TSS	Left Ventricle	heart
48	chr9:14347000-14349400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:14347000-14349600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:14347200-14348000	Bivalent/Poised TSS	HSMM	muscle

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