Variant report

Variant	rs72714444
Chromosome Location	chr1:92183983-92183984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92171317..92173686-chr1:92182060..92185039,2	K562	blood:
2	chr1:92182554..92184890-chr1:92189322..92192184,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17131539	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17884552	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007686	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2029354	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2029355	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2296620	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2296622	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3754014	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4658260	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658261	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699304	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr1:92152600-92184200	Strong transcription	HepG2	liver
2	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:92164000-92184400	Weak transcription	Hela-S3	cervix
5	chr1:92164000-92195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:92165800-92184800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
8	chr1:92166600-92191000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:92167400-92184800	Weak transcription	A549	lung
10	chr1:92168000-92191000	Weak transcription	HUVEC	blood vessel
11	chr1:92169800-92187200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
15	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:92173600-92185000	Weak transcription	Gastric	stomach
17	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
18	chr1:92173800-92184400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:92173800-92184600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:92174400-92184400	Weak transcription	Esophagus	oesophagus
21	chr1:92174400-92191200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:92174600-92184800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:92176800-92184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:92178000-92185000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:92178800-92184800	Weak transcription	Right Ventricle	heart
26	chr1:92179000-92184800	Weak transcription	Psoas Muscle	Psoas
27	chr1:92179000-92191600	Strong transcription	Placenta	Placenta
28	chr1:92179200-92184200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:92179200-92184800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:92179200-92187800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr1:92179200-92189800	Weak transcription	Right Atrium	heart
32	chr1:92179400-92184800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:92179400-92185000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:92179400-92186800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:92179400-92189800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:92179400-92190200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:92179400-92191000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:92179400-92192600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:92179400-92195200	Weak transcription	GM12878-XiMat	blood
40	chr1:92179600-92184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:92179600-92189800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:92180000-92189600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:92180200-92185000	Strong transcription	Adipose Nuclei	Adipose
44	chr1:92180200-92187200	Strong transcription	Liver	Liver
45	chr1:92180200-92187400	Strong transcription	NHLF	lung
46	chr1:92180200-92188400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:92180400-92187200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:92180800-92187200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:92180800-92187200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:92180800-92189200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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