Variant report

Variant	rs12347310
Chromosome Location	chr9:14349242-14349243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14321896..14324157-chr9:14348528..14353248,4	K562	blood:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13289560	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13289800	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	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:96 , 50 per page) page: 1 2

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	chr9:14344600-14350800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr9:14345400-14350000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:14345600-14351000	Active TSS	Right Atrium	heart
6	chr9:14345800-14350000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
7	chr9:14345800-14350200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
8	chr9:14346000-14350000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
9	chr9:14346200-14350400	Active TSS	Brain Substantia Nigra	brain
10	chr9:14346200-14350800	Active TSS	Brain Hippocampus Middle	brain
11	chr9:14346400-14349400	Active TSS	Esophagus	oesophagus
12	chr9:14346600-14350000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
13	chr9:14346600-14350600	Flanking Bivalent TSS/Enh	NHEK	skin
14	chr9:14346600-14350800	Active TSS	Psoas Muscle	Psoas
15	chr9:14346800-14349800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:14346800-14349800	Flanking Active TSS	HUVEC	blood vessel
17	chr9:14346800-14350200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr9:14346800-14351000	Active TSS	Aorta	Aorta
19	chr9:14347000-14349400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:14347000-14349600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:14347200-14349400	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr9:14347200-14349400	Active TSS	Hela-S3	cervix
23	chr9:14347200-14349600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:14347200-14350400	Flanking Active TSS	HMEC	breast
25	chr9:14347200-14350600	Active TSS	Right Ventricle	heart
26	chr9:14347400-14349400	Active TSS	Lung	lung
27	chr9:14347400-14349600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:14347400-14350200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:14347600-14349800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr9:14347800-14349600	Active TSS	Brain Anterior Caudate	brain
31	chr9:14347800-14350200	Active TSS	Brain Angular Gyrus	brain
32	chr9:14348000-14349600	Flanking Bivalent TSS/Enh	NHLF	lung
33	chr9:14348200-14349400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:14348200-14349600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:14348200-14349800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr9:14348200-14349800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
37	chr9:14348200-14350200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:14348200-14350400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr9:14348200-14350400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr9:14348400-14349400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:14348400-14349400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr9:14348400-14349600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:14348400-14349600	Bivalent/Poised TSS	Fetal Lung	lung
44	chr9:14348400-14349600	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr9:14348400-14350200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:14348600-14349800	Flanking Active TSS	Fetal Brain Female	brain
47	chr9:14348600-14349800	Bivalent Enhancer	Fetal Kidney	kidney
48	chr9:14348600-14350200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr9:14348600-14350200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:14348600-14350400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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