Variant report

Variant	rs6492269
Chromosome Location	chr13:111072698-111072699
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111071549..111074478-chr13:111087291..111089647,2	K562	blood:
2	chr13:111072172..111074783-chr13:111081415..111083238,2	K562	blood:

Variant related genes	Relation type
ENSG00000134871	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12866564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12867664	0.89[ASN][1000 genomes]
rs12868152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12868452	0.89[ASN][1000 genomes]
rs35166119	0.89[ASN][1000 genomes]
rs4486743	1.00[CHB][hapmap]
rs61963221	1.00[ASN][1000 genomes]
rs7318486	1.00[CHB][hapmap]
rs7328770	1.00[CHB][hapmap]
rs9521753	1.00[CHB][hapmap];1.00[JPT][hapmap];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	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:111065000-111077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:111065000-111077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:111065200-111077000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:111065200-111077400	Weak transcription	Fetal Kidney	kidney
10	chr13:111065200-111082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:111066200-111073000	Weak transcription	A549	lung
12	chr13:111067400-111075200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:111068200-111073000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:111068200-111073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:111068400-111088600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr13:111068600-111076000	Weak transcription	Esophagus	oesophagus
18	chr13:111068600-111078000	Weak transcription	Pancreas	Pancrea
19	chr13:111068600-111082800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:111068600-111086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:111068800-111073200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:111068800-111073200	Weak transcription	Fetal Lung	lung
23	chr13:111068800-111080800	Weak transcription	Fetal Intestine Large	intestine
24	chr13:111069200-111073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:111069800-111073600	Genic enhancers	NH-A	brain
26	chr13:111070000-111075400	Enhancers	Colon Smooth Muscle	Colon
27	chr13:111070200-111073000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:111070200-111073200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:111070200-111073200	Strong transcription	HSMM	muscle
30	chr13:111070200-111075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:111070400-111073000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:111070400-111073000	Strong transcription	Osteobl	bone
34	chr13:111070400-111077000	Weak transcription	Ovary	ovary
35	chr13:111070400-111078600	Enhancers	HUVEC	blood vessel
36	chr13:111070400-111085400	Weak transcription	Psoas Muscle	Psoas
37	chr13:111070600-111073000	Weak transcription	NHDF-Ad	bronchial
38	chr13:111070600-111073200	Weak transcription	Aorta	Aorta
39	chr13:111070600-111073200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:111070600-111083000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:111070800-111073000	Weak transcription	NHLF	lung
42	chr13:111071000-111073400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:111071000-111076600	Enhancers	Fetal Heart	heart
44	chr13:111071200-111072800	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr13:111071200-111073200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr13:111071200-111073800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:111071400-111072800	Enhancers	NHEK	skin
48	chr13:111071400-111073200	Enhancers	Lung	lung
49	chr13:111071400-111073200	Enhancers	Right Ventricle	heart
50	chr13:111071400-111073400	Genic enhancers	Stomach Smooth Muscle	stomach

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