Variant report

Variant	rs9559785
Chromosome Location	chr13:111045378-111045379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28592869	0.83[AMR][1000 genomes]
rs34204050	0.80[AMR][1000 genomes]
rs4132949	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4555010	0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61963204	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9555696	0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9559789	0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559790	0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9559791	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9559792	0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9559794	0.80[CHB][hapmap];0.86[JPT][hapmap];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	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111039200-111045600	Enhancers	Placenta	Placenta
2	chr13:111040600-111047600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:111040800-111048000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:111040800-111049600	Enhancers	NHDF-Ad	bronchial
5	chr13:111040800-111050800	Weak transcription	Psoas Muscle	Psoas
6	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:111041200-111045400	Genic enhancers	Osteobl	bone
8	chr13:111041200-111048000	Enhancers	Aorta	Aorta
9	chr13:111041400-111048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:111041400-111048600	Weak transcription	Esophagus	oesophagus
11	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
12	chr13:111041600-111046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:111041600-111047400	Weak transcription	Colonic Mucosa	Colon
14	chr13:111041800-111045400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:111041800-111045600	Enhancers	Rectal Smooth Muscle	rectum
16	chr13:111041800-111048600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr13:111042200-111045400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:111042200-111046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:111042200-111048800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:111042800-111045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:111042800-111045600	Enhancers	HSMMtube	muscle
22	chr13:111043000-111048800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:111043000-111049600	Weak transcription	Right Ventricle	heart
24	chr13:111043000-111057000	Weak transcription	NHEK	skin
25	chr13:111043000-111059200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:111043000-111060000	Weak transcription	A549	lung
27	chr13:111043600-111045600	Enhancers	HSMM	muscle
28	chr13:111043600-111046600	Enhancers	Fetal Muscle Leg	muscle
29	chr13:111044000-111045400	Enhancers	Colon Smooth Muscle	Colon
30	chr13:111044000-111045400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr13:111044000-111045600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:111044000-111048400	Weak transcription	HMEC	breast
33	chr13:111044000-111051000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:111044200-111045600	Enhancers	Left Ventricle	heart
35	chr13:111044200-111046000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:111044200-111049400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:111044400-111046400	Enhancers	Fetal Muscle Trunk	muscle
38	chr13:111044400-111048800	Weak transcription	Fetal Intestine Small	intestine
39	chr13:111044600-111045400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr13:111044600-111045400	Enhancers	Fetal Lung	lung
41	chr13:111044600-111045600	Enhancers	Fetal Kidney	kidney
42	chr13:111044600-111045600	Enhancers	HUVEC	blood vessel
43	chr13:111044600-111046000	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr13:111044800-111045400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:111044800-111045600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr13:111044800-111045600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:111044800-111045600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr13:111044800-111045600	Enhancers	Fetal Stomach	stomach
49	chr13:111044800-111049600	Enhancers	Adipose Nuclei	Adipose
50	chr13:111045000-111045400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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