Variant report

Variant	rs28714460
Chromosome Location	chr7:138263452-138263453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138243849..138247271-chr7:138261474..138264900,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10216085	0.82[AFR][1000 genomes]
rs10224063	1.00[AMR][1000 genomes]
rs10224559	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10226487	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227148	1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	1.00[AMR][1000 genomes]
rs10231698	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232500	1.00[AMR][1000 genomes]
rs10236859	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237720	0.82[AFR][1000 genomes]
rs10239129	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239202	0.82[AFR][1000 genomes]
rs10239932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240387	1.00[AMR][1000 genomes]
rs10241942	0.82[AFR][1000 genomes]
rs10242105	0.82[AFR][1000 genomes]
rs10243069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245088	0.82[AFR][1000 genomes]
rs10248027	1.00[AMR][1000 genomes]
rs10248255	1.00[AMR][1000 genomes]
rs10248604	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10249171	1.00[AMR][1000 genomes]
rs10254196	1.00[AMR][1000 genomes]
rs10254440	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256094	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256358	0.82[AFR][1000 genomes]
rs10256619	0.88[AFR][1000 genomes]
rs10256953	1.00[AMR][1000 genomes]
rs10258403	1.00[AMR][1000 genomes]
rs10259673	0.82[AFR][1000 genomes]
rs10261219	1.00[AMR][1000 genomes]
rs10261236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262919	1.00[AMR][1000 genomes]
rs10267577	0.82[AFR][1000 genomes]
rs10268912	0.82[AFR][1000 genomes]
rs10272478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10277465	0.82[AFR][1000 genomes]
rs10278741	0.82[AFR][1000 genomes]
rs10281429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281487	0.82[AFR][1000 genomes]
rs1073255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28435503	1.00[AMR][1000 genomes]
rs28480333	1.00[AMR][1000 genomes]
rs28502705	0.82[AFR][1000 genomes]
rs28514575	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.82[AFR][1000 genomes]
rs28546247	1.00[AMR][1000 genomes]
rs28584756	0.82[AFR][1000 genomes]
rs28593099	1.00[AMR][1000 genomes]
rs28598597	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28608602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28653145	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28691741	1.00[AMR][1000 genomes]
rs28694658	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822161	0.88[AFR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs3847123	0.82[AFR][1000 genomes]
rs3847124	0.82[AFR][1000 genomes]
rs4329204	0.88[AFR][1000 genomes]
rs9986844	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	chr7:138242600-138272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:138250200-138273800	Weak transcription	Gastric	stomach
3	chr7:138250400-138267600	Weak transcription	NHLF	lung
4	chr7:138250400-138272000	Weak transcription	Small Intestine	intestine
5	chr7:138250400-138273000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:138250600-138263800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:138250600-138264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:138250600-138270600	Weak transcription	Fetal Brain Male	brain
9	chr7:138250600-138271800	Weak transcription	Right Ventricle	heart
10	chr7:138250600-138273000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:138250600-138273400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:138250800-138263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:138250800-138264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:138250800-138272400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:138250800-138272600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr7:138250800-138273200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:138251000-138264000	Weak transcription	Psoas Muscle	Psoas
18	chr7:138251000-138267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:138251000-138272800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:138251000-138272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:138251200-138272800	Strong transcription	Fetal Thymus	thymus
22	chr7:138251200-138273000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:138251400-138263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:138251400-138266200	Strong transcription	Primary B cells from cord blood	blood
25	chr7:138251400-138270800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:138251400-138273000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:138251400-138273000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:138251600-138265400	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr7:138251600-138273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:138251800-138264000	Weak transcription	NHDF-Ad	bronchial
31	chr7:138252000-138264000	Weak transcription	Colonic Mucosa	Colon
32	chr7:138252000-138266600	Strong transcription	Primary T cells from cord blood	blood
33	chr7:138252000-138270800	Strong transcription	HepG2	liver
34	chr7:138252000-138272800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:138252200-138263600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:138252200-138270400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:138252200-138271800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:138252200-138272200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr7:138252200-138273000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:138252400-138272600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:138252400-138272800	Strong transcription	Liver	Liver
42	chr7:138252400-138273000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:138252600-138270400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr7:138252600-138272200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:138252600-138272800	Strong transcription	Dnd41	blood
46	chr7:138253000-138272400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:138253200-138270200	Strong transcription	Fetal Intestine Large	intestine
48	chr7:138253400-138268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:138253600-138270800	Strong transcription	K562	blood
50	chr7:138254200-138273000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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