Variant report

Variant	rs11619656
Chromosome Location	chr13:110986042-110986043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11617664	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619651	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330054	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7330111	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7993125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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:76 , 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	chr13:110979200-110986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:110979600-110986200	Weak transcription	Fetal Intestine Large	intestine
7	chr13:110979800-110989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:110979800-110989200	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:110980000-110989400	Weak transcription	Fetal Intestine Small	intestine
10	chr13:110980200-110988600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:110980200-110989800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:110980200-110993000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:110980200-110995400	Weak transcription	A549	lung
14	chr13:110980200-111002800	Weak transcription	Fetal Brain Male	brain
15	chr13:110980800-110988000	Strong transcription	HUVEC	blood vessel
16	chr13:110981000-110989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:110981200-110986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:110981600-110990200	Genic enhancers	Fetal Muscle Leg	muscle
19	chr13:110982000-110992600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr13:110982200-110989600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:110982400-110986400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr13:110982400-110991000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:110982800-110986400	Weak transcription	Spleen	Spleen
24	chr13:110983000-110987600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:110983200-110987000	Enhancers	HSMMtube	muscle
26	chr13:110983200-110988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:110983200-110988800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:110983200-110992800	Enhancers	Colon Smooth Muscle	Colon
29	chr13:110983400-110986400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:110983400-110987400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:110983400-110990200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:110983400-110991000	Weak transcription	Brain Germinal Matrix	brain
33	chr13:110984000-110986200	Enhancers	Stomach Smooth Muscle	stomach
34	chr13:110984000-110986400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:110984000-110986600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:110984000-110987000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:110984000-110989200	Weak transcription	Colonic Mucosa	Colon
38	chr13:110984000-110989200	Weak transcription	Psoas Muscle	Psoas
39	chr13:110984000-110989200	Weak transcription	Small Intestine	intestine
40	chr13:110984000-110989600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr13:110984200-110986200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:110984200-110986600	Genic enhancers	Rectal Smooth Muscle	rectum
43	chr13:110984200-110988200	Weak transcription	Fetal Lung	lung
44	chr13:110984200-110988800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:110984200-110988800	Weak transcription	Aorta	Aorta
46	chr13:110984200-110989200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:110984200-110989600	Weak transcription	Fetal Kidney	kidney
48	chr13:110984200-110992400	Genic enhancers	NH-A	brain
49	chr13:110984400-110990200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:110984600-110987200	Enhancers	Fetal Heart	heart

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