Variant report

Variant	rs573057
Chromosome Location	chr9:14113903-14113904
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10738353	0.82[EUR][1000 genomes]
rs10961380	1.00[JPT][hapmap]
rs10961384	0.86[CEU][hapmap]
rs475732	0.82[EUR][1000 genomes]
rs498010	0.86[CEU][hapmap]
rs510970	0.86[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs552338	0.82[EUR][1000 genomes]
rs571693	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs576216	0.86[CEU][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7018755	0.94[AFR][1000 genomes]
rs766401	0.91[JPT][hapmap]

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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14075400-14116000	Weak transcription	Gastric	stomach
2	chr9:14081400-14115800	Weak transcription	Hela-S3	cervix
3	chr9:14086000-14115600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:14090600-14115200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:14096800-14120000	Weak transcription	Brain Substantia Nigra	brain
6	chr9:14097400-14135400	Weak transcription	HSMMtube	muscle
7	chr9:14098400-14115800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:14098800-14115600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:14098800-14116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:14099000-14115600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:14099000-14116000	Weak transcription	Psoas Muscle	Psoas
12	chr9:14101800-14128200	Weak transcription	Esophagus	oesophagus
13	chr9:14103000-14115800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:14103200-14122800	Weak transcription	Brain Anterior Caudate	brain
15	chr9:14103400-14116000	Weak transcription	Aorta	Aorta
16	chr9:14103400-14128400	Weak transcription	Brain Angular Gyrus	brain
17	chr9:14103600-14119800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:14103800-14115400	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:14104200-14115800	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:14104800-14118600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:14107000-14126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:14107800-14115200	Weak transcription	Small Intestine	intestine
23	chr9:14108000-14127400	Weak transcription	Stomach Mucosa	stomach
24	chr9:14108200-14114000	Weak transcription	Right Ventricle	heart
25	chr9:14108400-14114000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr9:14108400-14114400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:14108400-14114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:14108400-14116200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:14108400-14118200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:14108400-14119800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:14108400-14120000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:14108400-14121000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:14108600-14118600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:14108800-14143800	Weak transcription	Fetal Intestine Small	intestine
35	chr9:14109000-14114000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:14109000-14120800	Strong transcription	Liver	Liver
37	chr9:14109600-14114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:14109600-14120200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:14110000-14116000	Weak transcription	Lung	lung
40	chr9:14110000-14128400	Weak transcription	Fetal Kidney	kidney
41	chr9:14110200-14127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:14110400-14115600	Weak transcription	Fetal Heart	heart
43	chr9:14111000-14118400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:14111200-14121600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr9:14111400-14115800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:14111400-14116400	Strong transcription	A549	lung
47	chr9:14111400-14117200	Strong transcription	Fetal Brain Female	brain
48	chr9:14111400-14124200	Weak transcription	Spleen	Spleen
49	chr9:14111600-14118000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:14111800-14117600	Strong transcription	Brain Germinal Matrix	brain

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