Variant report

Variant	rs10243069
Chromosome Location	chr7:138240689-138240690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10216325	1.00[YRI][hapmap]
rs10224063	1.00[AMR][1000 genomes]
rs10224459	0.89[AFR][1000 genomes]
rs10224559	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10226487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227148	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	1.00[AMR][1000 genomes]
rs10231698	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232500	1.00[AMR][1000 genomes]
rs10232597	0.88[AFR][1000 genomes]
rs10234810	0.91[AFR][1000 genomes]
rs10236859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237544	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs10237720	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10239129	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239202	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10239932	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240387	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10241288	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10241942	0.94[AFR][1000 genomes]
rs10242105	0.94[AFR][1000 genomes]
rs10245088	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10248027	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10248604	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10249171	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10253989	0.80[YRI][hapmap];0.80[AFR][1000 genomes]
rs10254196	1.00[AMR][1000 genomes]
rs10254440	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254935	0.85[AFR][1000 genomes]
rs10256094	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256358	0.94[AFR][1000 genomes]
rs10256619	0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs10256953	1.00[AMR][1000 genomes]
rs10258403	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10259673	0.94[AFR][1000 genomes]
rs10261219	1.00[AMR][1000 genomes]
rs10261236	0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10268912	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10272478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10277465	0.94[AFR][1000 genomes]
rs10278741	0.94[AFR][1000 genomes]
rs10281429	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281487	0.94[AFR][1000 genomes]
rs1073255	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28380017	0.89[AFR][1000 genomes]
rs28392567	0.91[AFR][1000 genomes]
rs28407067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28435503	1.00[AMR][1000 genomes]
rs28480333	1.00[AMR][1000 genomes]
rs28498774	0.91[AFR][1000 genomes]
rs28502705	0.94[AFR][1000 genomes]
rs28514575	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.94[AFR][1000 genomes]
rs28546247	1.00[AMR][1000 genomes]
rs28584756	0.94[AFR][1000 genomes]
rs28593099	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28608602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28653145	1.00[AMR][1000 genomes]
rs28673291	0.91[AFR][1000 genomes]
rs28688534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28691741	1.00[AMR][1000 genomes]
rs28694658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714460	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28729263	0.91[AFR][1000 genomes]
rs28762120	0.85[AFR][1000 genomes]
rs28764878	0.91[AFR][1000 genomes]
rs28816768	0.91[AFR][1000 genomes]
rs28822161	0.88[AFR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs3847123	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs3847124	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs4329204	0.88[AFR][1000 genomes]
rs9986844	0.81[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	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:138221200-138241400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:138225400-138242000	Weak transcription	A549	lung
4	chr7:138227000-138241200	Weak transcription	Hela-S3	cervix
5	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:138232200-138241600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:138232600-138241600	Strong transcription	HepG2	liver
8	chr7:138234600-138243600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr7:138234800-138241000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:138234800-138241400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:138235000-138248600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:138235200-138240800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:138235200-138241200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:138235200-138241200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr7:138235200-138241600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:138235400-138241400	Strong transcription	Liver	Liver
18	chr7:138235600-138241400	Strong transcription	Brain Hippocampus Middle	brain
19	chr7:138235600-138245200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:138235800-138240800	Strong transcription	Brain Angular Gyrus	brain
21	chr7:138235800-138243800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:138236600-138242600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr7:138236800-138242400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr7:138236800-138243400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr7:138236800-138250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr7:138237000-138243200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr7:138237000-138251200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr7:138237000-138251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:138237000-138252400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr7:138237200-138252600	ZNF genes & repeats	Dnd41	blood
34	chr7:138237400-138245200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr7:138237400-138251400	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr7:138237600-138244200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr7:138238000-138245000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr7:138238000-138245600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:138238200-138241200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr7:138238200-138244800	ZNF genes & repeats	GM12878-XiMat	blood
41	chr7:138238200-138251200	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr7:138238400-138240800	Strong transcription	Fetal Stomach	stomach
43	chr7:138238400-138242000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:138238400-138242600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr7:138238400-138243000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr7:138238400-138243400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:138238400-138243600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:138238400-138243600	ZNF genes & repeats	Left Ventricle	heart
49	chr7:138238400-138243800	Strong transcription	Brain Anterior Caudate	brain
50	chr7:138238400-138244000	ZNF genes & repeats	Esophagus	oesophagus

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