Variant report

Variant	rs28653708
Chromosome Location	chr1:75182790-75182791
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75182455..75184516-chr1:75199218..75200932,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17095870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095896	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095902	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095905	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095908	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095922	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095923	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095926	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095931	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095937	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095940	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17095986	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17553114	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17617950	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17618148	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1820294	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2298103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557039	0.94[EUR][1000 genomes]
rs57396966	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61543507	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72968202	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72970010	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72970049	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72973608	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72973615	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74095169	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524288	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7526913	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv871152	chr1:75152186-75197533	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75156000-75183400	Weak transcription	Fetal Heart	heart
2	chr1:75159400-75187400	Weak transcription	NHEK	skin
3	chr1:75166200-75183800	Weak transcription	Brain Anterior Caudate	brain
4	chr1:75166400-75191400	Weak transcription	Placenta	Placenta
5	chr1:75166600-75182800	Weak transcription	HSMM	muscle
6	chr1:75166600-75194800	Weak transcription	Esophagus	oesophagus
7	chr1:75166800-75189200	Weak transcription	Spleen	Spleen
8	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
9	chr1:75167600-75190600	Strong transcription	Liver	Liver
10	chr1:75167600-75190800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:75167800-75190000	Strong transcription	Adipose Nuclei	Adipose
12	chr1:75168600-75187000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:75168800-75186400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:75169000-75189600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:75169400-75182800	Weak transcription	HUVEC	blood vessel
16	chr1:75169400-75190600	Strong transcription	Primary B cells from cord blood	blood
17	chr1:75169400-75191600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:75169600-75184600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:75169800-75191800	Weak transcription	Colonic Mucosa	Colon
20	chr1:75170000-75183600	Weak transcription	Fetal Kidney	kidney
21	chr1:75170400-75189600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:75170600-75184400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:75170600-75184600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:75170600-75187000	Weak transcription	Stomach Mucosa	stomach
25	chr1:75170600-75187200	Weak transcription	Small Intestine	intestine
26	chr1:75170800-75187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:75171000-75197200	Weak transcription	Brain Angular Gyrus	brain
28	chr1:75171800-75189800	Strong transcription	HepG2	liver
29	chr1:75172000-75189400	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:75172600-75183200	Weak transcription	Dnd41	blood
31	chr1:75172600-75185600	Weak transcription	Fetal Thymus	thymus
32	chr1:75172600-75185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:75172800-75184200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:75173400-75189200	Strong transcription	Ovary	ovary
35	chr1:75173400-75189600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:75173600-75189600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:75173800-75184600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:75174600-75189600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
40	chr1:75175200-75183600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:75175400-75184600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:75175400-75187600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:75175400-75196000	Weak transcription	HSMMtube	muscle
44	chr1:75175800-75183200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:75176400-75189400	Strong transcription	Primary T cells from cord blood	blood
46	chr1:75176600-75184600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:75176600-75189600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:75176800-75191600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:75177000-75185800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:75177400-75188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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