Variant report

Variant	rs10248255
Chromosome Location	chr7:138226002-138226003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10216325	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10224063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224459	0.89[YRI][hapmap]
rs10224559	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10226487	1.00[AMR][1000 genomes]
rs10227148	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231698	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10232500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	1.00[AMR][1000 genomes]
rs10237069	1.00[AMR][1000 genomes]
rs10237544	0.87[YRI][hapmap]
rs10237720	0.89[YRI][hapmap]
rs10239129	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10239202	1.00[YRI][hapmap]
rs10239932	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10240387	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241288	0.88[YRI][hapmap]
rs10243069	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10245088	0.89[YRI][hapmap]
rs10248027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10249171	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253989	0.80[YRI][hapmap]
rs10254196	1.00[AMR][1000 genomes]
rs10254440	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10256094	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10256619	0.88[YRI][hapmap]
rs10256953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258403	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261236	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs10262919	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.88[YRI][hapmap]
rs10268912	0.89[YRI][hapmap]
rs10272478	1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10281429	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1073255	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28361932	1.00[AMR][1000 genomes]
rs28407067	1.00[AMR][1000 genomes]
rs28435503	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28480333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28514575	1.00[AMR][1000 genomes]
rs28546247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28593099	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	1.00[AMR][1000 genomes]
rs28608602	1.00[AMR][1000 genomes]
rs28653145	1.00[AMR][1000 genomes]
rs28688534	1.00[AMR][1000 genomes]
rs28691741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694658	1.00[AMR][1000 genomes]
rs28706910	0.86[AFR][1000 genomes]
rs28707292	1.00[AMR][1000 genomes]
rs28714460	1.00[AMR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs3847123	0.89[YRI][hapmap]
rs3847124	0.89[YRI][hapmap]
rs9986844	0.92[AFR][1000 genomes];1.00[AMR][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	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138213000-138230800	Weak transcription	NHLF	lung
2	chr7:138213000-138234000	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:138213000-138234800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:138213000-138235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:138213000-138235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:138213000-138235800	Weak transcription	Brain Angular Gyrus	brain
7	chr7:138213000-138235800	Weak transcription	Pancreas	Pancrea
8	chr7:138213000-138235800	Weak transcription	NHDF-Ad	bronchial
9	chr7:138213000-138235800	Weak transcription	Osteobl	bone
10	chr7:138213000-138236800	Weak transcription	HSMMtube	muscle
11	chr7:138213000-138238600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:138213000-138239400	Weak transcription	Right Atrium	heart
13	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:138213200-138235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:138213200-138235800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:138213200-138236000	Weak transcription	Right Ventricle	heart
17	chr7:138214600-138235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:138214600-138235800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:138214600-138235800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:138215800-138235600	Weak transcription	Colonic Mucosa	Colon
21	chr7:138215800-138235800	Weak transcription	Spleen	Spleen
22	chr7:138216200-138235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:138219800-138236800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:138220000-138235800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:138220200-138240400	Weak transcription	Psoas Muscle	Psoas
26	chr7:138220600-138227600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:138220600-138237200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:138220800-138227400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr7:138220800-138227800	Strong transcription	Liver	Liver
30	chr7:138220800-138238400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:138220800-138238400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:138221000-138237000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:138221200-138227000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:138221200-138232200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr7:138221200-138234000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:138221200-138241400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:138221600-138227600	Strong transcription	Primary T cells from cord blood	blood
38	chr7:138221800-138227400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:138221800-138229800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:138222000-138230000	Strong transcription	Fetal Intestine Large	intestine
41	chr7:138222000-138231000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:138222000-138233800	Weak transcription	Aorta	Aorta
43	chr7:138222000-138234000	Weak transcription	Lung	lung
44	chr7:138222000-138236800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:138222000-138238400	Weak transcription	Esophagus	oesophagus
46	chr7:138222000-138238400	Weak transcription	Gastric	stomach
47	chr7:138222200-138232400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:138222200-138234600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:138222200-138236800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:138222200-138238400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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