Variant report

Variant	rs12184943
Chromosome Location	chr13:111090584-111090585
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161944	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72657930	1.00[AFR][1000 genomes]
rs7988186	0.85[AMR][1000 genomes]
rs9583494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9583495	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9583496	0.85[AMR][1000 genomes]
rs9588163	0.85[AMR][1000 genomes]
rs9588164	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9588165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv901008	chr13:111089573-111126501	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3333014	chr13:111090413-111090908	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111068000-111107000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:111076600-111094600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111077000-111095200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:111077200-111095600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:111077400-111094800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:111078200-111090600	Weak transcription	Gastric	stomach
8	chr13:111078200-111093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:111078200-111094600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:111078200-111095200	Weak transcription	A549	lung
11	chr13:111078200-111099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
13	chr13:111078400-111093400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:111079200-111097600	Weak transcription	Fetal Brain Female	brain
15	chr13:111079800-111094000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:111080000-111094600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:111080600-111094600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr13:111080600-111095800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:111080800-111094000	Strong transcription	Fetal Intestine Large	intestine
20	chr13:111080800-111094200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:111081000-111094200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:111081200-111093000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:111081400-111094600	Weak transcription	Brain Germinal Matrix	brain
24	chr13:111081800-111096600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:111082800-111094000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr13:111083600-111093000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:111083600-111095200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:111083600-111095400	Weak transcription	Brain Hippocampus Middle	brain
29	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
30	chr13:111083800-111092400	Strong transcription	NHEK	skin
31	chr13:111083800-111094000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:111084000-111090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:111084200-111106400	Weak transcription	Liver	Liver
34	chr13:111084400-111100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:111084800-111098800	Strong transcription	Fetal Stomach	stomach
36	chr13:111085800-111092600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:111085800-111093600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:111085800-111094600	Weak transcription	NHDF-Ad	bronchial
39	chr13:111086000-111093000	Strong transcription	Placenta	Placenta
40	chr13:111086000-111095400	Weak transcription	Right Atrium	heart
41	chr13:111086000-111105800	Strong transcription	Adipose Nuclei	Adipose
42	chr13:111086200-111093600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:111086200-111093800	Strong transcription	HUVEC	blood vessel
44	chr13:111086200-111094800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr13:111086200-111095200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr13:111086400-111094000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:111087200-111093000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:111087200-111095000	Strong transcription	Colon Smooth Muscle	Colon
49	chr13:111087200-111095400	Weak transcription	Fetal Brain Male	brain
50	chr13:111087400-111090600	Weak transcription	Aorta	Aorta

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