Variant report

Variant	rs12138638
Chromosome Location	chr1:114234690-114234691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114225092..114226797-chr1:114232767..114235270,2	MCF-7	breast:
2	chr1:114234213..114236174-chr1:114237098..114240028,2	MCF-7	breast:
3	chr1:114228136..114230531-chr1:114234621..114236141,2	K562	blood:
4	chr1:114231734..114233894-chr1:114234429..114236598,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10776773	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10858006	0.84[ASN][1000 genomes]
rs10858015	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11102667	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11102671	0.92[AFR][1000 genomes]
rs11102678	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1146183	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146184	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146185	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1217194	0.85[ASN][1000 genomes]
rs1217202	0.81[ASN][1000 genomes]
rs1217212	0.82[ASN][1000 genomes]
rs1217224	0.83[ASN][1000 genomes]
rs1217229	0.81[ASN][1000 genomes]
rs1230673	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1230675	0.80[ASN][1000 genomes]
rs1230681	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1230684	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1235000	0.84[ASN][1000 genomes]
rs1237290	0.81[ASN][1000 genomes]
rs12757859	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13524	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1624335	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1743594	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1743595	0.86[ASN][1000 genomes]
rs1777239	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1935836	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2636003	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2798137	0.88[ASN][1000 genomes]
rs3789597	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7543121	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9429525	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
2	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
4	chr1:114183000-114235800	Weak transcription	Dnd41	blood
5	chr1:114202000-114241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:114203000-114237800	Weak transcription	NH-A	brain
7	chr1:114203200-114237600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
9	chr1:114203400-114237800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:114213600-114241600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:114215400-114235800	Weak transcription	Esophagus	oesophagus
12	chr1:114215400-114235800	Weak transcription	Lung	lung
13	chr1:114216000-114247000	Weak transcription	HMEC	breast
14	chr1:114216200-114241600	Weak transcription	Pancreas	Pancrea
15	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:114216400-114250400	Weak transcription	Placenta	Placenta
17	chr1:114218000-114235800	Weak transcription	Psoas Muscle	Psoas
18	chr1:114218200-114240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
20	chr1:114220600-114235800	Weak transcription	HSMM	muscle
21	chr1:114220600-114237600	Weak transcription	Fetal Heart	heart
22	chr1:114221000-114236000	Weak transcription	A549	lung
23	chr1:114224000-114241600	Weak transcription	Left Ventricle	heart
24	chr1:114224600-114236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:114224800-114237600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:114224800-114237600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:114224800-114238000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:114225200-114243800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:114225800-114236800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:114226600-114241600	Weak transcription	Gastric	stomach
31	chr1:114226800-114237000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:114227000-114234800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:114227000-114235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:114227000-114235800	Weak transcription	NHDF-Ad	bronchial
35	chr1:114227000-114239200	Weak transcription	Aorta	Aorta
36	chr1:114227000-114268200	Weak transcription	NHLF	lung
37	chr1:114227200-114234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:114227200-114235000	Weak transcription	Primary T cells from cord blood	blood
39	chr1:114227200-114236400	Weak transcription	Fetal Intestine Large	intestine
40	chr1:114227200-114236800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:114227200-114237600	Weak transcription	Adipose Nuclei	Adipose
42	chr1:114227200-114239600	Weak transcription	Ovary	ovary
43	chr1:114227400-114236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:114227400-114237200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:114227400-114252000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:114227600-114236600	Weak transcription	Fetal Lung	lung
47	chr1:114227600-114241400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:114227800-114237600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:114228000-114238400	Weak transcription	Stomach Mucosa	stomach
50	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum

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