Variant report

Variant	rs4651335
Chromosome Location	chr1:175116252-175116253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175115119..175117020-chr1:175119706..175122509,2	K562	blood:
2	chr1:175115502..175116290-chr1:175190557..175191448,3	MCF-7	breast:
3	chr1:174996789..174998917-chr1:175115886..175117632,2	K562	blood:
4	chr1:174998905..174999499-chr1:175115519..175116507,5	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10489328	0.83[ASN][1000 genomes]
rs2018318	0.84[ASN][1000 genomes]
rs2187958	0.83[ASN][1000 genomes]
rs2861157	0.83[ASN][1000 genomes]
rs3737933	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4650704	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73032622	0.94[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	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv429924	chr1:175110480-175134314	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4651335	KIAA0040	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175108000-175119800	Weak transcription	Adipose Nuclei	Adipose
2	chr1:175110200-175127400	Weak transcription	Left Ventricle	heart
3	chr1:175111400-175122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:175111600-175119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:175114800-175116400	Enhancers	HMEC	breast
6	chr1:175115000-175116600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:175115000-175125000	Weak transcription	Right Atrium	heart
8	chr1:175115200-175116400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:175115200-175116400	Enhancers	Placenta	Placenta
10	chr1:175115200-175117600	Enhancers	Fetal Brain Male	brain
11	chr1:175115400-175116400	Enhancers	GM12878-XiMat	blood
12	chr1:175115600-175116400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:175115600-175116400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr1:175115600-175116400	Enhancers	Fetal Intestine Small	intestine
15	chr1:175115800-175116400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:175115800-175116400	Enhancers	Liver	Liver
17	chr1:175115800-175120000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:175116000-175116400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:175116000-175116400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:175116000-175116600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:175116000-175116600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:175116000-175119200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:175116200-175116400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:175116200-175116400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr1:175116200-175116400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:175116200-175116400	Enhancers	Fetal Heart	heart
27	chr1:175116200-175116400	Active TSS	Fetal Intestine Large	intestine
28	chr1:175116200-175116400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr1:175116200-175116800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:175116200-175117200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:175116200-175119000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:175116200-175120000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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