Variant report

Variant	rs72738599
Chromosome Location	chr1:193011074-193011075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193009095..193012364-chr1:193012727..193015531,3	K562	blood:
2	chr1:193004968..193008080-chr1:193010225..193012392,3	K562	blood:
3	chr1:193010118..193015445-chr1:193024836..193028317,5	MCF-7	breast:
4	chr1:193005193..193008080-chr1:193010225..193012392,2	K562	blood:
5	chr1:193010816..193012933-chr1:193019340..193021014,2	MCF-7	breast:
6	chr1:193009398..193013409-chr1:193015633..193018958,4	MCF-7	breast:
7	chr1:193010684..193012353-chr1:193013426..193015707,2	MCF-7	breast:
8	chr1:193002497..193005080-chr1:193010739..193013056,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238754	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10489686	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10801170	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12118724	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123511	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129832	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12132305	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134846	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12136893	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2887640	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34961778	0.82[AMR][1000 genomes]
rs35221108	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56022114	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6670264	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738588	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738589	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544830	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192963800-193012400	Weak transcription	NHEK	skin
2	chr1:192963800-193019600	Weak transcription	Ovary	ovary
3	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:192979200-193025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:192981400-193026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:192983000-193017800	Weak transcription	HSMMtube	muscle
8	chr1:192983200-193012800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:192983200-193018000	Weak transcription	Pancreas	Pancrea
10	chr1:192983200-193023600	Weak transcription	Psoas Muscle	Psoas
11	chr1:192983200-193027800	Weak transcription	Aorta	Aorta
12	chr1:192984200-193026600	Weak transcription	NHLF	lung
13	chr1:192984400-193026400	Weak transcription	HUVEC	blood vessel
14	chr1:192984800-193025800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:192986200-193012000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:192987400-193026200	Weak transcription	Fetal Kidney	kidney
17	chr1:192988800-193012600	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:192989800-193012600	Weak transcription	Spleen	Spleen
19	chr1:192990800-193012800	Weak transcription	Fetal Brain Female	brain
20	chr1:192991200-193014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:192991400-193012600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:192991400-193018000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:192991600-193018000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:192991600-193018000	Weak transcription	Colonic Mucosa	Colon
25	chr1:192991800-193012600	Weak transcription	Thymus	Thymus
26	chr1:192991800-193015400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:192992800-193012600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:192993200-193014400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:192993400-193017800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:192994800-193012400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:192994800-193012600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:192994800-193018000	Weak transcription	Lung	lung
33	chr1:192995200-193011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:192995200-193011600	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:192995200-193012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:192995600-193012400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:192995800-193012600	Weak transcription	Primary T cells from cord blood	blood
38	chr1:192996000-193012600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:192996000-193018400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:192996200-193011400	Weak transcription	Placenta	Placenta
41	chr1:192996200-193012600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:192996200-193017600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:192996400-193012600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:192997000-193012600	Weak transcription	Left Ventricle	heart
45	chr1:192997000-193012800	Weak transcription	Fetal Lung	lung
46	chr1:192997200-193012400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:192997200-193012600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:192997200-193012600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:192997200-193012600	Weak transcription	Fetal Stomach	stomach
50	chr1:192997200-193012800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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