Variant report

Variant	rs6429564
Chromosome Location	chr1:45764803-45764804
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45763746..45766388-chr1:45768053..45771001,2	MCF-7	breast:
2	chr1:45476319..45479273-chr1:45762744..45765021,2	MCF-7	breast:
3	chr1:45189136..45191629-chr1:45764504..45767703,3	K562	blood:
4	chr1:45747656..45749487-chr1:45762522..45765596,3	K562	blood:
5	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
6	chr1:45739847..45742419-chr1:45763606..45766458,2	K562	blood:
7	chr1:45483011..45483657-chr1:45764134..45764928,2	K562	blood:
8	chr1:45184599..45187885-chr1:45762943..45766358,4	K562	blood:
9	chr1:45670505..45672378-chr1:45763943..45765548,2	MCF-7	breast:
10	chr1:45284741..45287398-chr1:45762792..45766811,5	K562	blood:
11	chr1:45761061..45765465-chr1:45766442..45769712,4	MCF-7	breast:
12	chr1:45266060..45268077-chr1:45763524..45765330,2	K562	blood:
13	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
14	chr1:45480096..45480810-chr1:45764172..45764822,2	K562	blood:
15	chr1:45761163..45763441-chr1:45763531..45765423,2	K562	blood:
16	chr1:45479997..45483032-chr1:45764659..45767473,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173846	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000162415	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17394390	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4233496	0.85[GIH][hapmap];0.81[MKK][hapmap]
rs4233497	0.85[GIH][hapmap];0.81[MKK][hapmap]
rs4660299	0.90[ASN][1000 genomes]
rs4660838	1.00[CHB][hapmap]
rs4660840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6429562	0.83[ASW][hapmap];0.85[GIH][hapmap];0.83[MKK][hapmap]
rs6688723	0.88[ASW][hapmap];0.89[YRI][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6429564	MUTYH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45762600-45768400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:45763000-45765400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:45763000-45766400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:45763200-45765400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:45763200-45766400	Enhancers	Brain Germinal Matrix	brain
6	chr1:45763200-45768400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:45763400-45765000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:45763600-45768200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:45763800-45767600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:45763800-45768800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:45764000-45767400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:45764000-45768800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:45764200-45767400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:45764400-45765000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:45764400-45765000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:45764400-45765000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:45764400-45765800	Weak transcription	Brain Anterior Caudate	brain
18	chr1:45764400-45765800	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:45764400-45765800	Weak transcription	K562	blood
20	chr1:45764400-45768400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:45764400-45768600	Weak transcription	Liver	Liver
22	chr1:45764400-45768600	Enhancers	HepG2	liver
23	chr1:45764600-45765800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:45764600-45765800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:45764600-45766200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:45764600-45768600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:45764800-45767400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:45764800-45768200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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