Variant report

Variant	rs59099346
Chromosome Location	chr1:114635959-114635960
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114635004..114637775-chr1:114660348..114663171,3	MCF-7	breast:
2	chr1:114635795..114636351-chr16:67189024..67189884,2	MCF-7	breast:
3	chr1:114635280..114637076-chr16:67188137..67191058,2	MCF-7	breast:
4	chr1:114635427..114637656-chr1:114664752..114666679,2	MCF-7	breast:
5	chr1:114521456..114522097-chr1:114635919..114636683,3	MCF-7	breast:
6	chr1:114635753..114636625-chr1:114758689..114759431,2	MCF-7	breast:
7	chr1:114635498..114636793-chr1:114761766..114763145,4	MCF-7	breast:
8	chr1:114635940..114636836-chr1:114889119..114889768,3	MCF-7	breast:
9	chr1:114623758..114625854-chr1:114633416..114636156,2	MCF-7	breast:
10	chr1:114635893..114636419-chr1:114761811..114762721,2	MCF-7	breast:
11	chr1:114635888..114636484-chr1:115100954..115101615,2	MCF-7	breast:
12	chr1:114634509..114637387-chr1:114642285..114643909,2	K562	blood:
13	chr1:114631687..114633246-chr1:114634431..114636796,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116774	Chromatin interaction
ENSG00000102871	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1039538	1.00[ASN][1000 genomes]
rs1394074	1.00[ASN][1000 genomes]
rs35061908	1.00[ASN][1000 genomes]
rs41274108	1.00[ASN][1000 genomes]
rs61013095	1.00[ASN][1000 genomes]
rs61324555	1.00[ASN][1000 genomes]
rs72988605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72988610	1.00[ASN][1000 genomes]
rs73003971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73003974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73003979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
4	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
5	chr1:114631400-114638400	Enhancers	Fetal Lung	lung
6	chr1:114631400-114638800	Weak transcription	Fetal Brain Female	brain
7	chr1:114631800-114636800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:114632000-114636600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:114632400-114637000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:114632600-114636000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:114632600-114636000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:114632600-114636200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:114632800-114636000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:114632800-114636000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:114632800-114636600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:114633000-114636600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:114633000-114637600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr1:114633000-114648000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:114633200-114636200	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr1:114634200-114648400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:114634600-114637800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:114634800-114639600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:114635600-114636200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:114635600-114636600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:114635600-114636600	Weak transcription	Fetal Stomach	stomach
27	chr1:114635600-114636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:114635600-114636800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:114635800-114639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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