Variant report

Variant	rs2571993
Chromosome Location	chr7:99519575-99519576
allele	A/G
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:1)
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	chr7:99515720..99519605-chr7:99715122..99717935,4	K562	blood:
2	chr7:99215348..99218327-chr7:99515747..99519754,4	MCF-7	breast:
3	chr7:99519062..99522170-chr7:99534160..99538120,3	K562	blood:
4	chr7:99516941..99519594-chr7:99565743..99568567,2	MCF-7	breast:
5	chr7:99518717..99520562-chr7:99535492..99537395,2	K562	blood:
6	chr7:99516652..99519879-chr7:99696878..99699951,3	MCF-7	breast:
7	chr7:99519344..99522278-chr7:99625729..99627804,2	K562	blood:
8	chr7:99154704..99157305-chr7:99518585..99520551,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP3A43-1	chr7:99518807-99522933	NONHSAT122276

No data

Variant related genes	Relation type
ENSG00000272647	Chromatin interaction
ENSG00000160862	Chromatin interaction
ENSG00000199711	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000197037	Chromatin interaction
ENSG00000197343	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1025576	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1048705	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808114	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1121592	0.97[ASN][1000 genomes]
rs13310903	0.82[ASN][1000 genomes]
rs1865472	0.97[ASN][1000 genomes]
rs2060452	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2082744	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2082745	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2247761	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247762	0.96[ASN][1000 genomes]
rs2525542	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2527899	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527900	0.97[ASN][1000 genomes]
rs2527901	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527902	0.97[ASN][1000 genomes]
rs2527903	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2527904	0.97[ASN][1000 genomes]
rs2527906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527908	0.97[ASN][1000 genomes]
rs2527909	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527911	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527912	0.96[ASN][1000 genomes]
rs2527913	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527914	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527915	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527916	0.97[ASN][1000 genomes]
rs2527918	0.96[ASN][1000 genomes]
rs2527919	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527920	0.96[ASN][1000 genomes]
rs2527921	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527922	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527925	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2527926	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2527927	0.91[ASN][1000 genomes]
rs2571991	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2571992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571994	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571995	0.97[ASN][1000 genomes]
rs2571996	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571997	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571998	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571999	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572000	0.96[ASN][1000 genomes]
rs2572002	0.91[ASN][1000 genomes]
rs2572003	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572005	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572006	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572008	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572009	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572010	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572011	0.94[ASN][1000 genomes]
rs2572012	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2572013	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2572015	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2572018	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2572019	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2572022	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2572024	0.81[AMR][1000 genomes]
rs4727439	0.96[ASN][1000 genomes]
rs474229	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs503115	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7781442	0.96[ASN][1000 genomes]
rs7809747	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs2571993	TRIM4	cis	Skin Sun Exposed Lower leg	GTEx
rs2571993	TRIM4	cis	Whole Blood	GTEx
rs2571993	TRIM4	cis	multi-tissue	Pritchard
rs2571993	TRIM4	cis	Adipose Subcutaneous	GTEx
rs2571993	TRIM4	cis	Artery Tibial	GTEx
rs2571993	TRIM4	cis	Stomach	GTEx
rs2571993	TRIM4	cis	Esophagus Mucosa	GTEx
rs2571993	TRIM4	cis	lung	GTEx
rs2571993	TRIM4	cis	Muscle Skeletal	GTEx
rs2571993	TRIM4	cis	Esophagus Muscularis	GTEx
rs2571993	TRIM4	cis	Thyroid	GTEx
rs2571993	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs2571993	TRIM4	cis	Artery Aorta	GTEx
rs2571993	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs2571993	TRIM4	cis	Nerve Tibial	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99517600-99520000	Weak transcription	Aorta	Aorta
2	chr7:99517600-99524400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:99517600-99526800	Weak transcription	Gastric	stomach
4	chr7:99517800-99521600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:99517800-99526600	Weak transcription	Esophagus	oesophagus
6	chr7:99517800-99526600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:99518000-99519800	Weak transcription	Fetal Thymus	thymus
8	chr7:99518000-99520200	Weak transcription	Fetal Brain Female	brain
9	chr7:99518000-99521400	Weak transcription	Fetal Intestine Small	intestine
10	chr7:99518000-99526600	Weak transcription	Fetal Stomach	stomach
11	chr7:99518200-99519600	Weak transcription	HSMMtube	muscle
12	chr7:99518200-99520200	Weak transcription	Small Intestine	intestine
13	chr7:99518200-99520400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr7:99518200-99520600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:99518200-99520600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:99518200-99520800	Weak transcription	K562	blood
17	chr7:99518200-99520800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:99518200-99521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:99518200-99521400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:99518200-99521400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:99518200-99521600	Weak transcription	NHDF-Ad	bronchial
22	chr7:99518200-99521800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:99518200-99522000	Weak transcription	Primary T cells from cord blood	blood
24	chr7:99518200-99522000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:99518200-99522000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:99518200-99522400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:99518200-99523000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:99518200-99523000	Weak transcription	Osteobl	bone
29	chr7:99518200-99523600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:99518200-99523600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:99518200-99524000	Weak transcription	HMEC	breast
32	chr7:99518200-99524200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:99518200-99524400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:99518200-99525800	Weak transcription	Adipose Nuclei	Adipose
35	chr7:99518200-99526600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:99518200-99526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:99518200-99526800	Weak transcription	Brain Anterior Caudate	brain
38	chr7:99518200-99526800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:99518200-99527000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:99518200-99527000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:99518400-99520200	Weak transcription	Primary B cells from cord blood	blood
42	chr7:99518400-99522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:99518400-99523800	Weak transcription	NHEK	skin
44	chr7:99518400-99526800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:99518400-99526800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:99518600-99519600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:99518600-99521000	Weak transcription	Dnd41	blood
48	chr7:99518600-99523000	Weak transcription	GM12878-XiMat	blood
49	chr7:99518600-99526400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:99518800-99519600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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