Variant report

Variant	rs12348427
Chromosome Location	chr9:14093945-14093946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14084996..14087351-chr9:14092569..14095116,2	K562	blood:
2	chr9:14087200..14091584-chr9:14091633..14096199,6	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10118048	0.90[AFR][1000 genomes]
rs12340320	0.97[AFR][1000 genomes]
rs475732	0.86[AFR][1000 genomes]
rs510970	0.90[AFR][1000 genomes]
rs548824	0.93[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs552338	0.90[AFR][1000 genomes]
rs571693	0.83[AFR][1000 genomes]
rs766402	0.93[AFR][1000 genomes]
rs7858	0.95[AFR][1000 genomes];0.80[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	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14075400-14116000	Weak transcription	Gastric	stomach
2	chr9:14078000-14112800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr9:14079800-14094400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:14080000-14095400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:14081400-14096200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:14081400-14096400	Weak transcription	Brain Germinal Matrix	brain
7	chr9:14081400-14115800	Weak transcription	Hela-S3	cervix
8	chr9:14081800-14095600	Weak transcription	Fetal Brain Male	brain
9	chr9:14082000-14096200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:14082000-14096200	Weak transcription	Osteobl	bone
11	chr9:14082200-14096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:14082200-14096000	Weak transcription	HMEC	breast
13	chr9:14082400-14096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:14082400-14096600	Weak transcription	Liver	Liver
15	chr9:14082600-14096000	Weak transcription	NHEK	skin
16	chr9:14083000-14096200	Weak transcription	Ovary	ovary
17	chr9:14083400-14096200	Weak transcription	Psoas Muscle	Psoas
18	chr9:14083400-14096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:14083800-14096000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:14084800-14098600	Weak transcription	Pancreas	Pancrea
21	chr9:14085000-14094000	Weak transcription	A549	lung
22	chr9:14085200-14096000	Weak transcription	Right Atrium	heart
23	chr9:14085400-14096200	Weak transcription	Right Ventricle	heart
24	chr9:14086000-14115600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:14088000-14094000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:14088000-14094800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:14088200-14096400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:14088400-14096200	Weak transcription	Fetal Stomach	stomach
29	chr9:14089400-14096400	Weak transcription	Left Ventricle	heart
30	chr9:14089600-14095400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:14089800-14095200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:14090000-14095200	Weak transcription	Fetal Brain Female	brain
33	chr9:14090200-14095400	Weak transcription	Brain Hippocampus Middle	brain
34	chr9:14090600-14095400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:14090600-14115200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:14091000-14094600	Weak transcription	Fetal Heart	heart
37	chr9:14091000-14095400	Weak transcription	Adipose Nuclei	Adipose
38	chr9:14091000-14095400	Weak transcription	Fetal Intestine Small	intestine
39	chr9:14091000-14096000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:14091000-14096000	Weak transcription	HSMMtube	muscle
41	chr9:14091200-14094000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:14091200-14096000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:14092200-14094400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:14092400-14094200	Strong transcription	Fetal Muscle Leg	muscle
45	chr9:14092400-14096200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:14092800-14094600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:14092800-14095400	Weak transcription	HSMM	muscle
48	chr9:14092800-14096000	Weak transcription	Aorta	Aorta
49	chr9:14093200-14094400	Strong transcription	NH-A	brain
50	chr9:14093600-14094600	Genic enhancers	Fetal Lung	lung

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