Variant report

Variant	rs10241288
Chromosome Location	chr7:138252469-138252470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138245855..138248023-chr7:138249211..138253236,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10216085	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216325	0.88[YRI][hapmap]
rs10224459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10226487	0.91[AFR][1000 genomes]
rs10227148	0.90[LWK][hapmap];0.88[YRI][hapmap]
rs10231698	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs10232597	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	0.91[AFR][1000 genomes]
rs10237069	0.91[AFR][1000 genomes]
rs10237544	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237720	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239129	0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs10239202	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239932	0.86[YRI][hapmap];0.91[AFR][1000 genomes]
rs10240387	0.88[YRI][hapmap]
rs10241942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10245088	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	0.88[YRI][hapmap]
rs10248604	0.84[ASW][hapmap];0.90[LWK][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10253989	0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10254935	0.88[AFR][1000 genomes]
rs10256094	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10256358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256619	0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258403	0.88[YRI][hapmap]
rs10259673	0.82[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268912	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	0.91[AFR][1000 genomes]
rs10277465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281429	0.82[ASW][hapmap];0.90[LWK][hapmap]
rs10281487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1073255	0.91[AFR][1000 genomes]
rs13438568	0.81[AFR][1000 genomes]
rs13438570	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs28380017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28392567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407067	0.91[AFR][1000 genomes]
rs28498774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	0.91[AFR][1000 genomes]
rs28608602	0.91[AFR][1000 genomes]
rs28673291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688534	0.91[AFR][1000 genomes]
rs28694658	0.91[AFR][1000 genomes]
rs28706910	1.00[AMR][1000 genomes]
rs28707292	0.91[AFR][1000 genomes]
rs28729263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762120	0.94[AFR][1000 genomes]
rs28764878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28816768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883144	1.00[AMR][1000 genomes]
rs3847123	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847124	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947993	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:138237200-138252600	ZNF genes & repeats	Dnd41	blood
7	chr7:138238400-138253600	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr7:138239400-138252600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
9	chr7:138242600-138272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:138246800-138252600	ZNF genes & repeats	Fetal Lung	lung
11	chr7:138246800-138252800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr7:138250200-138253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:138250200-138255200	Weak transcription	Hela-S3	cervix
14	chr7:138250200-138255600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:138250200-138273800	Weak transcription	Gastric	stomach
16	chr7:138250400-138267600	Weak transcription	NHLF	lung
17	chr7:138250400-138272000	Weak transcription	Small Intestine	intestine
18	chr7:138250400-138273000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:138250600-138253000	Weak transcription	Aorta	Aorta
20	chr7:138250600-138263800	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:138250600-138264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:138250600-138270600	Weak transcription	Fetal Brain Male	brain
23	chr7:138250600-138271800	Weak transcription	Right Ventricle	heart
24	chr7:138250600-138273000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:138250600-138273400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:138250800-138252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:138250800-138253000	Strong transcription	NH-A	brain
28	chr7:138250800-138253800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:138250800-138254000	Strong transcription	Fetal Kidney	kidney
30	chr7:138250800-138255000	Weak transcription	Brain Angular Gyrus	brain
31	chr7:138250800-138255400	Weak transcription	Brain Anterior Caudate	brain
32	chr7:138250800-138255400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:138250800-138255600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:138250800-138255600	Weak transcription	Brain Substantia Nigra	brain
35	chr7:138250800-138255600	Weak transcription	Pancreas	Pancrea
36	chr7:138250800-138258000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:138250800-138263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:138250800-138264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:138250800-138272400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:138250800-138272600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr7:138250800-138273200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:138251000-138253600	Strong transcription	Fetal Stomach	stomach
43	chr7:138251000-138253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:138251000-138253800	Weak transcription	Ovary	ovary
45	chr7:138251000-138255000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:138251000-138255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:138251000-138255600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:138251000-138257800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:138251000-138264000	Weak transcription	Psoas Muscle	Psoas
50	chr7:138251000-138267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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