Variant report

Variant	rs7317390
Chromosome Location	chr13:110984977-110984978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110955529..110957160-chr13:110983247..110985626,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12859020	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1556122	1.00[CHB][hapmap];0.82[GIH][hapmap];0.97[ASN][1000 genomes]
rs7317178	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7323190	0.86[GIH][hapmap];0.82[ASN][1000 genomes]
rs9521699	0.83[ASW][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.82[YRI][hapmap]
rs9555689	1.00[CHB][hapmap]

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr13:110972600-111007200	Weak transcription	Gastric	stomach
3	chr13:110972800-110995000	Weak transcription	Esophagus	oesophagus
4	chr13:110974000-110993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110978400-110985200	Enhancers	NHDF-Ad	bronchial
6	chr13:110979200-110986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:110979400-110985000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:110979600-110985000	Weak transcription	NHEK	skin
9	chr13:110979600-110986200	Weak transcription	Fetal Intestine Large	intestine
10	chr13:110979800-110985200	Weak transcription	Pancreas	Pancrea
11	chr13:110979800-110989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:110979800-110989200	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:110980000-110989400	Weak transcription	Fetal Intestine Small	intestine
14	chr13:110980200-110985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:110980200-110988600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:110980200-110989800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:110980200-110993000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:110980200-110995400	Weak transcription	A549	lung
19	chr13:110980200-111002800	Weak transcription	Fetal Brain Male	brain
20	chr13:110980800-110988000	Strong transcription	HUVEC	blood vessel
21	chr13:110981000-110989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:110981200-110986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:110981400-110986000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:110981600-110990200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr13:110982000-110992600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:110982200-110989600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:110982400-110986400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:110982400-110991000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr13:110982600-110985400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:110982800-110985200	Weak transcription	Lung	lung
31	chr13:110982800-110986400	Weak transcription	Spleen	Spleen
32	chr13:110983000-110985200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr13:110983000-110987600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:110983200-110986000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:110983200-110987000	Enhancers	HSMMtube	muscle
36	chr13:110983200-110988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:110983200-110988800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:110983200-110992800	Enhancers	Colon Smooth Muscle	Colon
39	chr13:110983400-110986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:110983400-110987400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:110983400-110990200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:110983400-110991000	Weak transcription	Brain Germinal Matrix	brain
43	chr13:110983800-110985000	Strong transcription	Right Ventricle	heart
44	chr13:110984000-110985000	Enhancers	NHLF	lung
45	chr13:110984000-110985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr13:110984000-110985200	Weak transcription	Placenta	Placenta
47	chr13:110984000-110985200	Weak transcription	Right Atrium	heart
48	chr13:110984000-110985400	Genic enhancers	Osteobl	bone
49	chr13:110984000-110986000	Strong transcription	Adipose Nuclei	Adipose
50	chr13:110984000-110986200	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links