Variant report

Variant	rs552594431
Chromosome Location	chr9:14345036-14345037
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	SUZ12	chr9:14344009-14351112	NT2-D1	testis:	n/a	n/a
2	CTBP2	chr9:14344929-14346599	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr9:14344897-14346945	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:14344417-14347484	H1-neurons	neurons:	n/a	n/a
5	HDAC2	chr9:14344839-14345202	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr9:14344732-14347104	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14313044..14315034-chr9:14344732..14346813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225472	TF binding region
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14341000-14346400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr9:14343600-14345600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14343600-14345600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:14343800-14345400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:14343800-14345800	Weak transcription	Lung	lung
6	chr9:14343800-14346000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:14343800-14350800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr9:14343800-14351000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr9:14344000-14345400	Active TSS	Fetal Brain Female	brain
10	chr9:14344000-14345600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr9:14344000-14346000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr9:14344000-14348600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr9:14344000-14349200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr9:14344200-14345800	Bivalent Enhancer	NH-A	brain
15	chr9:14344200-14348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr9:14344400-14345200	Enhancers	A549	lung
17	chr9:14344400-14345200	Bivalent Enhancer	NHEK	skin
18	chr9:14344400-14345400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:14344400-14345600	Flanking Active TSS	Fetal Brain Male	brain
20	chr9:14344400-14345800	Weak transcription	Right Ventricle	heart
21	chr9:14344400-14346800	Weak transcription	Left Ventricle	heart
22	chr9:14344600-14345200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:14344600-14345600	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr9:14344600-14345600	Enhancers	Fetal Muscle Trunk	muscle
25	chr9:14344600-14346800	Weak transcription	Aorta	Aorta
26	chr9:14344600-14346800	Weak transcription	HUVEC	blood vessel
27	chr9:14344600-14347200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr9:14344600-14350800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr9:14344800-14345200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr9:14344800-14345200	Enhancers	Right Atrium	heart
31	chr9:14344800-14345200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr9:14344800-14345600	Weak transcription	Adipose Nuclei	Adipose
33	chr9:14344800-14345600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr9:14344800-14345600	Active TSS	Brain Substantia Nigra	brain
35	chr9:14344800-14345800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:14344800-14346000	Bivalent Enhancer	HMEC	breast
37	chr9:14344800-14346600	Bivalent Enhancer	Fetal Heart	heart
38	chr9:14345000-14345200	Bivalent Enhancer	Fetal Lung	lung
39	chr9:14345000-14345200	Enhancers	Psoas Muscle	Psoas
40	chr9:14345000-14345200	Bivalent Enhancer	Small Intestine	intestine
41	chr9:14345000-14345200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr9:14345000-14345400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr9:14345000-14345400	Bivalent Enhancer	Brain Angular Gyrus	brain
44	chr9:14345000-14345600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr9:14345000-14345600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:14345000-14345800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:14345000-14345800	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr9:14345000-14346000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:14345000-14347000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:14345000-14347000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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