Variant report

Variant	rs58746017
Chromosome Location	chr1:213028559-213028560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:213028521-213028617	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
2	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
3	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:

Variant related genes	Relation type
FLVCR1	TF binding region
ENSG00000162769	Chromatin interaction
ENSG00000198468	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2047288	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2047291	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3738799	0.85[AMR][1000 genomes]
rs3738801	0.85[AMR][1000 genomes]
rs3768549	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41258005	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41275386	0.85[AMR][1000 genomes]
rs41296666	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41296668	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41296674	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41296676	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41296678	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41296680	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41297452	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41300027	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41300033	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41300035	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41300043	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41300979	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41301029	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41307644	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307646	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41314540	0.85[AMR][1000 genomes]
rs41314542	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521050	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213022600-213030000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:213024200-213030000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:213024200-213030200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:213025200-213030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:213025400-213029600	Weak transcription	Dnd41	blood
7	chr1:213025800-213029800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:213025800-213030000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:213026000-213030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:213026000-213030200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:213026200-213029600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:213026200-213030400	Weak transcription	Right Atrium	heart
13	chr1:213026200-213030800	Weak transcription	Thymus	Thymus
14	chr1:213026400-213029800	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:213026400-213030200	Weak transcription	Primary T cells from cord blood	blood
16	chr1:213026400-213030400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:213026600-213030000	Weak transcription	Primary B cells from cord blood	blood
18	chr1:213026600-213030000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:213026600-213030000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:213026600-213030000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:213026600-213030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:213026600-213030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:213026600-213030200	Weak transcription	Fetal Kidney	kidney
24	chr1:213026600-213030200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:213026600-213030200	Weak transcription	Spleen	Spleen
26	chr1:213026600-213030200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:213026600-213030200	Weak transcription	NHEK	skin
28	chr1:213026800-213030000	Enhancers	HepG2	liver
29	chr1:213026800-213030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:213027000-213030000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:213027000-213030200	Weak transcription	Lung	lung
32	chr1:213027200-213029600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:213027200-213030000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:213027400-213029800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:213027400-213029800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:213027400-213030200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:213027400-213030200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:213027600-213029800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:213027600-213030000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:213027600-213030200	Weak transcription	Fetal Stomach	stomach
41	chr1:213027600-213030600	Weak transcription	HSMMtube	muscle
42	chr1:213027800-213028800	Enhancers	A549	lung
43	chr1:213027800-213029800	Weak transcription	GM12878-XiMat	blood
44	chr1:213027800-213030200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:213028200-213030400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:213028400-213028600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:213028400-213028600	Genic enhancers	H9 Cell Line	embryonic stem cell
48	chr1:213028400-213028600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:213028400-213028600	Enhancers	Left Ventricle	heart
50	chr1:213028400-213028600	Enhancers	Pancreas	Pancrea

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