Variant report

Variant	rs72955374
Chromosome Location	chr1:93589892-93589893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93570456..93572672-chr1:93587819..93590538,2	K562	blood:
2	chr1:93581690..93584197-chr1:93588548..93590722,2	K562	blood:
3	chr1:93581690..93584300-chr1:93587926..93591596,3	K562	blood:

Variant related genes	Relation type
ENSG00000143033	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10157785	1.00[EUR][1000 genomes]
rs1054165	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057256	0.82[ASN][1000 genomes]
rs11801977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802421	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805267	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11807404	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12239921	1.00[EUR][1000 genomes]
rs17131715	1.00[EUR][1000 genomes]
rs17131717	1.00[EUR][1000 genomes]
rs1932313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3066510	0.82[AMR][1000 genomes]
rs3171	0.82[ASN][1000 genomes]
rs55940503	1.00[EUR][1000 genomes]
rs55959166	1.00[EUR][1000 genomes]
rs57353954	1.00[EUR][1000 genomes]
rs58770710	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60497651	0.82[ASN][1000 genomes]
rs60517691	1.00[EUR][1000 genomes]
rs60813039	0.82[ASN][1000 genomes]
rs60868033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61671588	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61690932	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541360	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6663752	0.82[ASN][1000 genomes]
rs6664190	0.82[ASN][1000 genomes]
rs6675991	0.81[AFR][1000 genomes]
rs6677862	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678465	1.00[EUR][1000 genomes]
rs6688132	1.00[EUR][1000 genomes]
rs6688199	0.82[ASN][1000 genomes]
rs6688513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689867	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6691556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955379	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955402	0.82[ASN][1000 genomes]
rs72957300	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961310	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101447	1.00[EUR][1000 genomes]
rs74101453	1.00[EUR][1000 genomes]
rs74101464	1.00[EUR][1000 genomes]
rs7518171	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7530923	1.00[EUR][1000 genomes]
rs7545358	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs754899	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9662414	0.82[AMR][1000 genomes];1.00[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
2	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
3	chr1:93548000-93601800	Weak transcription	NHLF	lung
4	chr1:93565200-93625200	Weak transcription	Stomach Mucosa	stomach
5	chr1:93571400-93602200	Weak transcription	Colonic Mucosa	Colon
6	chr1:93572400-93599600	Weak transcription	Spleen	Spleen
7	chr1:93573400-93627000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:93573800-93609000	Strong transcription	Fetal Thymus	thymus
9	chr1:93574200-93609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:93574600-93609000	Strong transcription	Dnd41	blood
11	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
12	chr1:93577200-93592800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:93577200-93597000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:93577600-93591400	Weak transcription	Fetal Heart	heart
15	chr1:93577800-93601600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:93578800-93613600	Weak transcription	Psoas Muscle	Psoas
17	chr1:93578800-93620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:93579600-93595400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:93580000-93624000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:93581000-93599200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:93581200-93616800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:93582400-93599800	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:93582400-93600000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:93582400-93620400	Weak transcription	Small Intestine	intestine
26	chr1:93582400-93642800	Weak transcription	Gastric	stomach
27	chr1:93582600-93600000	Weak transcription	Ovary	ovary
28	chr1:93583000-93601400	Weak transcription	Brain Substantia Nigra	brain
29	chr1:93583000-93604200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:93583200-93595200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:93583200-93602000	Weak transcription	NHDF-Ad	bronchial
32	chr1:93583200-93628800	Weak transcription	Brain Angular Gyrus	brain
33	chr1:93583600-93590200	Weak transcription	GM12878-XiMat	blood
34	chr1:93583600-93592800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:93583600-93593800	Weak transcription	Fetal Stomach	stomach
36	chr1:93583600-93594400	Weak transcription	NHEK	skin
37	chr1:93583600-93595600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:93583600-93595800	Weak transcription	Brain Germinal Matrix	brain
39	chr1:93583600-93599600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:93583600-93599600	Weak transcription	Left Ventricle	heart
41	chr1:93583600-93600000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:93583600-93600800	Weak transcription	Fetal Brain Female	brain
43	chr1:93583600-93613800	Weak transcription	Lung	lung
44	chr1:93583600-93623800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:93583600-93635400	Weak transcription	Pancreas	Pancrea
46	chr1:93584200-93600000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:93584200-93600000	Weak transcription	Osteobl	bone
48	chr1:93584400-93596200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:93584600-93594800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:93584600-93600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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