Variant report

Variant	rs9429064
Chromosome Location	chr1:45771030-45771031
allele	A/G/T
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:28)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45769529..45771862-chr1:45787888..45789985,2	K562	blood:
2	chr1:45768281..45771138-chr1:45796764..45802126,5	MCF-7	breast:
3	chr1:45768003..45772070-chr1:45964648..45967315,5	K562	blood:
4	chr1:45767877..45774853-chr1:45802459..45807372,12	K562	blood:
5	chr1:45196186..45198352-chr1:45768360..45771059,2	MCF-7	breast:
6	chr1:45769560..45771577-chr1:45812920..45815177,2	K562	blood:
7	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
8	chr1:45767832..45771484-chr1:45985093..45988810,5	K562	blood:
9	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
10	chr1:45240455..45242747-chr1:45769407..45771575,2	K562	blood:
11	chr1:45450947..45453129-chr1:45770139..45772507,2	K562	blood:
12	chr1:45184077..45189466-chr1:45767737..45771248,11	K562	blood:
13	chr1:45293029..45295076-chr1:45769453..45771554,2	MCF-7	breast:
14	chr1:45284161..45290157-chr1:45766666..45771483,12	K562	blood:
15	chr1:45767853..45771862-chr1:45786144..45789985,4	K562	blood:
16	chr1:45283674..45286034-chr1:45767652..45771171,5	MCF-7	breast:
17	chr1:45396788..45398380-chr1:45768568..45771235,2	K562	blood:
18	chr1:45193680..45198999-chr1:45768008..45771912,9	K562	blood:
19	chr1:45185975..45188981-chr1:45767504..45771091,13	K562	blood:
20	chr1:45282609..45288514-chr1:45767803..45773154,13	K562	blood:
21	chr1:45769536..45771577-chr1:45812790..45815177,2	K562	blood:
22	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
23	chr1:45770153..45772059-chr1:45985117..45987576,2	K562	blood:
24	chr1:45769724..45771289-chr1:45824669..45826392,2	MCF-7	breast:
25	chr1:45768110..45772204-chr1:45801230..45805942,7	MCF-7	breast:
26	chr1:45767776..45771231-chr1:45801954..45807210,10	K562	blood:
27	chr1:45476329..45477906-chr1:45768337..45771148,2	MCF-7	breast:
28	chr1:45768893..45771768-chr1:45791455..45796830,6	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUTYH-1	chr1:45770979-45771290	ENSG00000246279
2	lnc-MUTYH-1	chr1:45770198-45771260	XLOC_000816
3	lnc-HPDL-2	chr1:45769582-45771291	NONHSAT002925

No data

Variant related genes	Relation type
ENSG00000142937	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000253039	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000186603	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000225721	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11801286	0.86[EUR][1000 genomes]
rs11810682	1.00[ASN][1000 genomes]
rs1691220	1.00[AMR][1000 genomes]
rs55676719	0.86[EUR][1000 genomes]
rs56247660	0.86[EUR][1000 genomes]
rs56359961	0.80[AFR][1000 genomes]
rs57013566	0.86[EUR][1000 genomes]
rs58364751	0.86[EUR][1000 genomes]
rs59517508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60900863	0.86[EUR][1000 genomes]
rs72478599	0.93[ASN][1000 genomes]
rs72890555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521364	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7549045	0.82[AFR][1000 genomes]
rs7555357	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781228	1.00[AMR][1000 genomes]
rs781229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45770200-45771200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:45770200-45772200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:45770400-45771200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:45770400-45771200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:45770400-45771200	Enhancers	Fetal Thymus	thymus
6	chr1:45770400-45771400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:45770400-45771400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:45770400-45771400	Enhancers	Psoas Muscle	Psoas
9	chr1:45770400-45771800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:45770400-45771800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:45770400-45771800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:45770400-45772000	Enhancers	Fetal Brain Female	brain
13	chr1:45770400-45772600	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:45770600-45771200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:45770600-45771800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:45770600-45771800	Weak transcription	HUVEC	blood vessel
17	chr1:45770600-45772000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:45770600-45772000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:45770600-45772000	Weak transcription	Osteobl	bone
20	chr1:45770600-45772200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:45770600-45772600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:45770600-45772600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:45770600-45773000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:45770600-45773200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:45770800-45771200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:45770800-45771200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:45770800-45771200	Enhancers	HepG2	liver
28	chr1:45770800-45771400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:45770800-45771600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:45770800-45771600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:45770800-45771600	Enhancers	GM12878-XiMat	blood
32	chr1:45770800-45771800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:45770800-45771800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:45770800-45771800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:45770800-45771800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:45770800-45772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:45770800-45772000	Weak transcription	Primary B cells from cord blood	blood
38	chr1:45770800-45772000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:45770800-45772000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:45770800-45772000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:45770800-45772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:45770800-45772000	Weak transcription	NH-A	brain
43	chr1:45770800-45772000	Weak transcription	NHEK	skin
44	chr1:45770800-45772200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:45770800-45772200	Weak transcription	NHDF-Ad	bronchial
46	chr1:45770800-45772400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:45771000-45771200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:45771000-45771400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:45771000-45771400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:45771000-45771800	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links