Variant report

Variant	rs10118048
Chromosome Location	chr9:14123017-14123018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12340320	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12348427	0.90[AFR][1000 genomes]
rs510970	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs548824	0.83[AFR][1000 genomes]
rs552338	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs571693	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs766402	0.93[AFR][1000 genomes]
rs7858	1.00[YRI][hapmap];0.86[AFR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
2	chr9:14101800-14128200	Weak transcription	Esophagus	oesophagus
3	chr9:14103400-14128400	Weak transcription	Brain Angular Gyrus	brain
4	chr9:14107000-14126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:14108000-14127400	Weak transcription	Stomach Mucosa	stomach
6	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
7	chr9:14110000-14128400	Weak transcription	Fetal Kidney	kidney
8	chr9:14110200-14127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:14111400-14124200	Weak transcription	Spleen	Spleen
10	chr9:14114400-14125200	Weak transcription	Colonic Mucosa	Colon
11	chr9:14115400-14127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:14116200-14127000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:14116400-14137800	Weak transcription	Small Intestine	intestine
14	chr9:14116600-14128000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:14116600-14133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:14116600-14159200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:14116600-14179200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:14116800-14123600	Weak transcription	Lung	lung
19	chr9:14116800-14125200	Weak transcription	Left Ventricle	heart
20	chr9:14116800-14125600	Weak transcription	Ovary	ovary
21	chr9:14116800-14128600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:14116800-14156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:14117000-14171200	Weak transcription	Hela-S3	cervix
24	chr9:14117400-14130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:14118400-14126200	Weak transcription	HSMM	muscle
26	chr9:14118400-14127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:14119600-14123200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:14120200-14159000	Weak transcription	NHLF	lung
29	chr9:14120400-14124000	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:14120400-14124600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:14120400-14130200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:14120600-14123400	Weak transcription	Aorta	Aorta
33	chr9:14120600-14123600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:14120600-14123600	Weak transcription	Gastric	stomach
35	chr9:14120600-14125400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:14120600-14125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:14120600-14126400	Weak transcription	Fetal Brain Male	brain
38	chr9:14120600-14127000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:14120600-14127600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:14120600-14128400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:14120600-14130400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:14120600-14131400	Weak transcription	Pancreas	Pancrea
43	chr9:14120600-14132600	Weak transcription	Psoas Muscle	Psoas
44	chr9:14120600-14133600	Weak transcription	Right Ventricle	heart
45	chr9:14120600-14151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr9:14120600-14154800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr9:14120600-14159000	Weak transcription	NH-A	brain
48	chr9:14120800-14123600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:14120800-14124400	Strong transcription	Fetal Lung	lung
50	chr9:14120800-14125200	Weak transcription	Rectal Mucosa Donor 31	rectum

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