Variant report

Variant	rs28552775
Chromosome Location	chr2:178394005-178394006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178388937..178391731-chr2:178393506..178395926,2	K562	blood:
2	chr2:178378278..178380721-chr2:178392835..178395026,2	K562	blood:
3	chr2:178393145..178396316-chr2:178404411..178407832,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10173667	1.00[AMR][1000 genomes]
rs10186918	1.00[AMR][1000 genomes]
rs11892161	1.00[AMR][1000 genomes]
rs11898798	1.00[AMR][1000 genomes]
rs11900380	1.00[AMR][1000 genomes]
rs13413244	1.00[AMR][1000 genomes]
rs13420517	1.00[AMR][1000 genomes]
rs4893986	1.00[AMR][1000 genomes]
rs58936343	1.00[AMR][1000 genomes]
rs6758141	1.00[AMR][1000 genomes]
rs73976182	1.00[AMR][1000 genomes]
rs73976751	1.00[AMR][1000 genomes]
rs73979736	1.00[AMR][1000 genomes]
rs9917195	0.94[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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:178335000-178410600	Weak transcription	Thymus	Thymus
3	chr2:178338000-178403000	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:178339800-178394400	Weak transcription	Hela-S3	cervix
5	chr2:178348400-178402600	Weak transcription	NHDF-Ad	bronchial
6	chr2:178349800-178407800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:178350000-178407000	Weak transcription	Osteobl	bone
8	chr2:178356000-178405400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:178358600-178406000	Weak transcription	Ovary	ovary
10	chr2:178358600-178417000	Weak transcription	Aorta	Aorta
11	chr2:178358800-178396600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:178360600-178405400	Weak transcription	NH-A	brain
13	chr2:178362400-178395600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:178363000-178395600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:178364400-178416600	Weak transcription	Esophagus	oesophagus
16	chr2:178367800-178397200	Weak transcription	Psoas Muscle	Psoas
17	chr2:178371400-178399800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:178372600-178405400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:178372800-178399200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:178372800-178416600	Weak transcription	A549	lung
21	chr2:178374400-178394400	Strong transcription	HepG2	liver
22	chr2:178375200-178400800	Weak transcription	Lung	lung
23	chr2:178375400-178394400	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:178375600-178413800	Weak transcription	K562	blood
25	chr2:178376000-178397400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:178376200-178407800	Weak transcription	Left Ventricle	heart
27	chr2:178376200-178416600	Weak transcription	Pancreas	Pancrea
28	chr2:178376600-178407600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:178378400-178410000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:178379600-178407600	Weak transcription	Fetal Kidney	kidney
31	chr2:178379800-178406000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:178384800-178395200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:178385400-178401000	Weak transcription	Fetal Intestine Small	intestine
34	chr2:178385400-178405000	Weak transcription	GM12878-XiMat	blood
35	chr2:178385800-178395200	Weak transcription	Right Ventricle	heart
36	chr2:178386000-178407400	Weak transcription	HSMMtube	muscle
37	chr2:178386800-178405400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:178387600-178402400	Weak transcription	Placenta	Placenta
39	chr2:178388600-178416600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:178388800-178405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:178389000-178405200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:178389000-178407800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:178389000-178408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:178389000-178416800	Weak transcription	Small Intestine	intestine
45	chr2:178389200-178406000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:178389200-178416600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:178389600-178397200	Weak transcription	Primary T cells from cord blood	blood
48	chr2:178389600-178403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:178389800-178394400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:178389800-178395400	Weak transcription	Stomach Mucosa	stomach

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