Variant report

Variant	rs74115713
Chromosome Location	chr1:153741512-153741513
allele	A/C
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	chr1:153707400..153709904-chr1:153740195..153742998,2	MCF-7	breast:
2	chr1:153740321..153742761-chr1:153949643..153951682,2	MCF-7	breast:
3	chr1:153721935..153723540-chr1:153739545..153741861,2	K562	blood:
4	chr1:153737522..153739073-chr1:153740493..153742047,2	MCF-7	breast:
5	chr1:153723574..153725253-chr1:153740119..153742273,2	MCF-7	breast:
6	chr1:153651116..153652910-chr1:153740976..153746594,4	MCF-7	breast:
7	chr1:153740288..153742265-chr1:153754245..153756102,2	K562	blood:
8	chr1:153698143..153700265-chr1:153739778..153743356,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143543	Chromatin interaction
ENSG00000233222	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000199565	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000243613	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11264299	0.94[EUR][1000 genomes]
rs11264336	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1132619	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12062022	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12068901	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070179	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070559	0.94[EUR][1000 genomes]
rs12071801	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076697	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12097043	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34527123	1.00[ASN][1000 genomes]
rs36064263	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4073768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41265191	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55658698	0.94[EUR][1000 genomes]
rs55778008	0.94[EUR][1000 genomes]
rs56167936	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56910871	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57314764	0.83[EUR][1000 genomes]
rs60100741	0.84[EUR][1000 genomes]
rs60316596	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60827720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803563	0.94[EUR][1000 genomes]
rs61803565	0.94[EUR][1000 genomes]
rs61803566	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61803567	0.98[EUR][1000 genomes]
rs61803571	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61803573	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61803652	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6427085	0.90[EUR][1000 genomes]
rs6660232	0.84[EUR][1000 genomes]
rs6663011	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6663988	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6668229	0.83[EUR][1000 genomes]
rs6672371	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6682411	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6687602	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6689176	0.94[EUR][1000 genomes]
rs7512561	0.84[EUR][1000 genomes]
rs7515716	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7520045	0.84[EUR][1000 genomes]
rs7520235	0.83[EUR][1000 genomes]
rs7556155	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7556379	0.84[EUR][1000 genomes]
rs7556575	0.93[AMR][1000 genomes];0.98[EUR][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	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv464039	chr1:153708906-153801098	Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv547941	chr1:153708906-153801098	Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS 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 miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153712800-153742800	Strong transcription	Fetal Muscle Trunk	muscle
2	chr1:153712800-153743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:153712800-153744800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:153712800-153746400	Strong transcription	Brain Germinal Matrix	brain
5	chr1:153712800-153751800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:153713000-153745400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:153713000-153745400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:153713000-153746400	Strong transcription	Primary T cells from cord blood	blood
9	chr1:153713000-153747000	Strong transcription	Dnd41	blood
10	chr1:153714000-153746800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:153715400-153745600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:153715600-153745600	Strong transcription	Fetal Thymus	thymus
13	chr1:153716400-153746000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:153719800-153746800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:153722000-153743800	Strong transcription	Fetal Stomach	stomach
16	chr1:153722200-153742800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:153722400-153743000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:153722400-153746200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr1:153722400-153746800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:153722600-153742800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:153722600-153746600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:153722800-153742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:153723600-153746800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:153725600-153747200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:153726400-153746200	Strong transcription	Fetal Lung	lung
26	chr1:153726800-153746000	Strong transcription	Ovary	ovary
27	chr1:153727800-153746400	Weak transcription	Fetal Heart	heart
28	chr1:153728400-153745800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:153729400-153743200	Strong transcription	HSMM	muscle
30	chr1:153730800-153747000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:153730800-153752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:153731000-153747000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:153733200-153742800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:153733400-153745400	Strong transcription	Osteobl	bone
35	chr1:153734000-153743000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:153734800-153746000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:153735400-153747600	Weak transcription	K562	blood
38	chr1:153736000-153741800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:153736400-153745400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:153736400-153745600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:153736600-153742800	Strong transcription	Left Ventricle	heart
42	chr1:153736600-153743800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:153736600-153745400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:153736800-153743800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:153736800-153746600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:153737000-153744800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:153737200-153741600	Strong transcription	Adipose Nuclei	Adipose
48	chr1:153737200-153745200	Weak transcription	Right Atrium	heart
49	chr1:153737200-153746600	Strong transcription	Brain Anterior Caudate	brain
50	chr1:153737400-153741800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links