Variant report

Variant	rs1330137
Chromosome Location	chr9:13275151-13275152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1038978	0.81[YRI][hapmap]
rs1041507	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10733258	0.92[AFR][1000 genomes]
rs1330127	1.00[AMR][1000 genomes]
rs1412111	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1537206	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1999396	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2131894	1.00[AMR][1000 genomes]
rs4469558	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7044288	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7047484	1.00[AMR][1000 genomes]
rs7872990	1.00[AMR][1000 genomes]
rs7875612	1.00[AMR][1000 genomes]
rs985801	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs986481	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv892583	chr9:13166139-13350478	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv892584	chr9:13214871-13350478	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv427838	chr9:13229753-13393890	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13226800-13278000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr9:13240000-13278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:13255000-13277200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:13256800-13277600	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:13265600-13278200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:13268800-13278000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:13268800-13278000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:13269000-13276000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:13269000-13276600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:13269800-13277800	Weak transcription	Aorta	Aorta
11	chr9:13270000-13277800	Weak transcription	Fetal Brain Male	brain
12	chr9:13270000-13278200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:13272600-13278000	Weak transcription	Right Ventricle	heart
14	chr9:13273200-13275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:13273200-13278200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:13273800-13275600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:13274400-13275200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:13274400-13275600	Enhancers	Rectal Smooth Muscle	rectum
19	chr9:13274600-13275400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:13274600-13275400	Enhancers	Liver	Liver
21	chr9:13274600-13275400	Enhancers	NHLF	lung
22	chr9:13274600-13275600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:13274600-13275600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:13274600-13275600	Enhancers	HSMM	muscle
25	chr9:13274600-13275600	Enhancers	Osteobl	bone
26	chr9:13274600-13275800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:13274600-13275800	Enhancers	Colon Smooth Muscle	Colon
28	chr9:13274600-13276000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr9:13274600-13276000	Enhancers	HUVEC	blood vessel
30	chr9:13274800-13275400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:13274800-13275400	Enhancers	Fetal Lung	lung
32	chr9:13274800-13275600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:13274800-13275600	Enhancers	Adipose Nuclei	Adipose
34	chr9:13274800-13275600	Enhancers	HMEC	breast
35	chr9:13274800-13275800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:13274800-13275800	Enhancers	NH-A	brain
37	chr9:13274800-13276000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr9:13274800-13276000	Enhancers	A549	lung
39	chr9:13274800-13276200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:13274800-13278000	Enhancers	Fetal Heart	heart
41	chr9:13275000-13275200	Enhancers	NHDF-Ad	bronchial
42	chr9:13275000-13275400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:13275000-13275400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:13275000-13275400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:13275000-13275400	Enhancers	Brain Germinal Matrix	brain
46	chr9:13275000-13275400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:13275000-13275400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr9:13275000-13275400	Enhancers	Fetal Stomach	stomach
49	chr9:13275000-13275400	Enhancers	Ovary	ovary
50	chr9:13275000-13275400	Enhancers	HepG2	liver

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