Variant report

Variant	rs2518121
Chromosome Location	chr9:108334430-108334431
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	chr9:108330989..108333120-chr9:108334347..108336541,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1018850	1.00[YRI][hapmap]
rs1024366	1.00[YRI][hapmap]
rs10820806	1.00[YRI][hapmap]
rs10820807	1.00[YRI][hapmap]
rs10991661	1.00[YRI][hapmap]
rs10991662	1.00[YRI][hapmap]
rs12554844	1.00[YRI][hapmap]
rs1327351	1.00[YRI][hapmap]
rs1329022	1.00[YRI][hapmap]
rs1858744	1.00[YRI][hapmap]
rs1928293	1.00[YRI][hapmap]
rs1928294	1.00[YRI][hapmap]
rs2518110	1.00[YRI][hapmap]
rs2518115	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2518122	1.00[YRI][hapmap]
rs2518127	1.00[YRI][hapmap]
rs2518132	1.00[YRI][hapmap]
rs2768282	1.00[YRI][hapmap]
rs2768284	1.00[YRI][hapmap]
rs2768285	1.00[YRI][hapmap]
rs2768295	1.00[YRI][hapmap]
rs2768296	1.00[YRI][hapmap]
rs2904847	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108321200-108335600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:108321600-108336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:108321600-108336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:108321600-108336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:108321600-108338000	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:108321600-108353600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:108321600-108354000	Weak transcription	Right Ventricle	heart
8	chr9:108321600-108360200	Weak transcription	HSMM	muscle
9	chr9:108321600-108397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:108322200-108334600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr9:108324800-108353800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr9:108325400-108334600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:108325400-108335000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:108325400-108337800	Weak transcription	Dnd41	blood
15	chr9:108325400-108339200	Weak transcription	Fetal Brain Male	brain
16	chr9:108325400-108357200	Weak transcription	A549	lung
17	chr9:108325600-108336600	Weak transcription	Fetal Lung	lung
18	chr9:108325600-108353200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:108325600-108353200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:108325600-108353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:108325800-108353800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:108326000-108334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:108326000-108338200	Weak transcription	Ovary	ovary
24	chr9:108328000-108372800	Weak transcription	NHEK	skin
25	chr9:108330800-108366200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:108331000-108337400	Weak transcription	Adipose Nuclei	Adipose
27	chr9:108331200-108340000	Weak transcription	NH-A	brain
28	chr9:108332000-108334600	Weak transcription	Liver	Liver
29	chr9:108332000-108334600	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:108332200-108334600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:108332800-108334800	Weak transcription	Aorta	Aorta
32	chr9:108332800-108337200	Weak transcription	Osteobl	bone
33	chr9:108333200-108334600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr9:108333200-108337800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:108333200-108338200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr9:108333200-108400400	Weak transcription	HMEC	breast
37	chr9:108333400-108335400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr9:108333400-108336800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:108333400-108352600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:108333400-108352600	Weak transcription	Fetal Kidney	kidney
41	chr9:108333600-108334600	Weak transcription	Primary B cells from cord blood	blood
42	chr9:108333600-108337600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:108333800-108334600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:108333800-108335800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:108334000-108335000	ZNF genes & repeats	Fetal Brain Female	brain
46	chr9:108334000-108335600	Strong transcription	Left Ventricle	heart
47	chr9:108334000-108337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:108334200-108334800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:108334200-108368200	Weak transcription	Gastric	stomach
50	chr9:108334400-108334800	Weak transcription	Rectal Mucosa Donor 29	rectum

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