Variant report

Variant	rs28864519
Chromosome Location	chr7:128860798-128860799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10215998	1.00[EUR][1000 genomes]
rs10235589	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264209	1.00[AMR][1000 genomes]
rs10269495	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281269	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533108	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13240723	1.00[EUR][1000 genomes]
rs1405475	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469554	1.00[EUR][1000 genomes]
rs1526898	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526899	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549788	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1609043	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1991645	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2052962	1.00[AMR][1000 genomes]
rs2402946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402947	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463096	1.00[EUR][1000 genomes]
rs2566875	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2566881	1.00[EUR][1000 genomes]
rs2566882	1.00[EUR][1000 genomes]
rs2694575	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694576	1.00[EUR][1000 genomes]
rs2694577	1.00[EUR][1000 genomes]
rs2694583	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694591	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718085	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718090	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718091	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718092	1.00[EUR][1000 genomes]
rs2718097	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718100	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399138	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437865	1.00[AMR][1000 genomes]
rs28475451	1.00[AMR][1000 genomes]
rs4731567	1.00[EUR][1000 genomes]
rs6467234	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467236	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949882	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950279	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7805353	1.00[AMR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	0.87[AMR][1000 genomes];1.00[EUR][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	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3394473	chr7:128859216-128861064	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
2	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
5	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
6	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:128845800-128863600	Weak transcription	Colonic Mucosa	Colon
8	chr7:128846600-128862200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:128847200-128864000	Weak transcription	Psoas Muscle	Psoas
10	chr7:128847600-128864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:128849800-128864000	Weak transcription	Fetal Kidney	kidney
12	chr7:128851600-128864200	Weak transcription	Esophagus	oesophagus
13	chr7:128852600-128864000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:128852800-128861600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:128852800-128861800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:128853000-128863800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:128853200-128863600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:128853200-128863800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:128853200-128864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:128853200-128864000	Weak transcription	Fetal Lung	lung
21	chr7:128853400-128864400	Weak transcription	Ovary	ovary
22	chr7:128854200-128864000	Weak transcription	Right Atrium	heart
23	chr7:128855800-128864000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:128856400-128863800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:128858600-128861800	Weak transcription	Dnd41	blood
26	chr7:128858600-128863800	Weak transcription	Liver	Liver
27	chr7:128858600-128863800	Weak transcription	HMEC	breast
28	chr7:128858800-128861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:128858800-128861600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:128858800-128861600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:128858800-128861800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:128858800-128861800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:128858800-128861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:128858800-128862000	Weak transcription	HepG2	liver
35	chr7:128858800-128863800	Weak transcription	Fetal Intestine Large	intestine
36	chr7:128858800-128864000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:128858800-128864000	Weak transcription	Brain Angular Gyrus	brain
38	chr7:128858800-128864000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:128858800-128864000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:128858800-128864000	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:128858800-128864000	Weak transcription	Fetal Intestine Small	intestine
42	chr7:128859000-128861400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:128859000-128861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:128859000-128861600	Weak transcription	Primary B cells from cord blood	blood
45	chr7:128859000-128861600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:128859000-128861600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:128859000-128861800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:128859000-128861800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:128859000-128861800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:128859000-128862000	Weak transcription	Fetal Muscle Leg	muscle

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