Variant report

Variant	rs28435503
Chromosome Location	chr7:138253728-138253729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10224063	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	1.00[AMR][1000 genomes]
rs10226487	1.00[AMR][1000 genomes]
rs10227148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	1.00[AMR][1000 genomes]
rs10231698	1.00[AMR][1000 genomes]
rs10232500	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	1.00[AMR][1000 genomes]
rs10237069	1.00[AMR][1000 genomes]
rs10239129	1.00[AMR][1000 genomes]
rs10239932	1.00[AMR][1000 genomes]
rs10240387	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	1.00[AMR][1000 genomes]
rs10248027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	1.00[AMR][1000 genomes]
rs10249171	1.00[AMR][1000 genomes]
rs10254196	1.00[AMR][1000 genomes]
rs10254440	1.00[AMR][1000 genomes]
rs10256094	1.00[AMR][1000 genomes]
rs10256953	1.00[AMR][1000 genomes]
rs10258403	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261219	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261236	1.00[AMR][1000 genomes]
rs10262919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10281429	1.00[AMR][1000 genomes]
rs1073255	1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	1.00[AMR][1000 genomes]
rs28361932	1.00[AMR][1000 genomes]
rs28407067	1.00[AMR][1000 genomes]
rs28480333	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28514575	1.00[AMR][1000 genomes]
rs28546247	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28593099	0.90[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694658	1.00[AMR][1000 genomes]
rs28706910	0.83[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]
rs9986844	0.90[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:138242600-138272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:138250200-138253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:138250200-138255200	Weak transcription	Hela-S3	cervix
6	chr7:138250200-138255600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:138250200-138273800	Weak transcription	Gastric	stomach
8	chr7:138250400-138267600	Weak transcription	NHLF	lung
9	chr7:138250400-138272000	Weak transcription	Small Intestine	intestine
10	chr7:138250400-138273000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:138250600-138263800	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:138250600-138264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:138250600-138270600	Weak transcription	Fetal Brain Male	brain
14	chr7:138250600-138271800	Weak transcription	Right Ventricle	heart
15	chr7:138250600-138273000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:138250600-138273400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:138250800-138253800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:138250800-138254000	Strong transcription	Fetal Kidney	kidney
19	chr7:138250800-138255000	Weak transcription	Brain Angular Gyrus	brain
20	chr7:138250800-138255400	Weak transcription	Brain Anterior Caudate	brain
21	chr7:138250800-138255400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:138250800-138255600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:138250800-138255600	Weak transcription	Brain Substantia Nigra	brain
24	chr7:138250800-138255600	Weak transcription	Pancreas	Pancrea
25	chr7:138250800-138258000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:138250800-138263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:138250800-138264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:138250800-138272400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:138250800-138272600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr7:138250800-138273200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:138251000-138253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:138251000-138253800	Weak transcription	Ovary	ovary
33	chr7:138251000-138255000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:138251000-138255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:138251000-138255600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:138251000-138257800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:138251000-138264000	Weak transcription	Psoas Muscle	Psoas
38	chr7:138251000-138267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:138251000-138272800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:138251000-138272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:138251200-138255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:138251200-138255600	Weak transcription	Esophagus	oesophagus
43	chr7:138251200-138255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:138251200-138255600	Weak transcription	Spleen	Spleen
45	chr7:138251200-138272800	Strong transcription	Fetal Thymus	thymus
46	chr7:138251200-138273000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:138251400-138253800	Weak transcription	HMEC	breast
48	chr7:138251400-138255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr7:138251400-138256000	Weak transcription	HSMMtube	muscle
50	chr7:138251400-138259000	Strong transcription	Primary T cells fromperipheralblood	blood

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