Variant report

Variant	rs11620109
Chromosome Location	chr13:76040804-76040805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76039660..76041295-chr2:8817858..8820426,2	MCF-7	breast:
2	chr13:76024363..76026211-chr13:76040160..76042265,2	K562	blood:
3	chr13:76035923..76038251-chr13:76040733..76043153,2	K562	blood:

Variant related genes	Relation type
ENSG00000235092	Chromatin interaction
ENSG00000115738	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2031507	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031508	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35267702	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4542543	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4883999	0.83[ASN][1000 genomes]
rs7331661	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335576	0.82[ASN][1000 genomes]
rs9530440	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573548	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573554	0.87[ASN][1000 genomes]
rs9573555	0.87[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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76020400-76054400	Weak transcription	A549	lung
2	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
4	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:76033400-76045600	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:76033600-76041200	Weak transcription	Adipose Nuclei	Adipose
7	chr13:76033600-76042800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:76033600-76042800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:76035200-76045600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:76035600-76041400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:76036000-76041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:76036000-76041600	Weak transcription	Osteobl	bone
13	chr13:76036000-76042400	Weak transcription	HSMMtube	muscle
14	chr13:76037400-76042200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:76037400-76043200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr13:76037600-76041800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:76037800-76042400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:76038000-76042200	Weak transcription	Hela-S3	cervix
19	chr13:76038000-76043200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:76038800-76041800	Weak transcription	Fetal Brain Male	brain
21	chr13:76039400-76042000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:76039400-76052000	Weak transcription	Right Ventricle	heart
23	chr13:76039600-76042000	Enhancers	Ovary	ovary
24	chr13:76039600-76042200	Weak transcription	HMEC	breast
25	chr13:76039600-76053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:76039800-76042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:76039800-76042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:76039800-76044400	Weak transcription	Right Atrium	heart
29	chr13:76039800-76054200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:76040000-76041600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:76040000-76044200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:76040200-76041400	Weak transcription	Fetal Heart	heart
33	chr13:76040200-76042200	Weak transcription	Left Ventricle	heart
34	chr13:76040200-76042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:76040200-76043200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:76040200-76043200	Weak transcription	Psoas Muscle	Psoas
37	chr13:76040200-76054800	Weak transcription	Pancreas	Pancrea
38	chr13:76040400-76041200	Weak transcription	GM12878-XiMat	blood
39	chr13:76040400-76041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:76040400-76044600	Enhancers	HepG2	liver
41	chr13:76040600-76041000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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