Variant report

Variant	rs56018014
Chromosome Location	chr13:111087297-111087298
allele	A/G
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	chr13:111074584..111076836-chr13:111085848..111088108,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs34164708	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34576234	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57873561	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58230440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60212072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492274	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74124328	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983979	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7986264	0.95[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	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:88 , 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	chr13:111068400-111088600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:111070200-111108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:111076600-111094600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:111077000-111095200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:111077200-111095600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:111077400-111094800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:111077600-111087800	Strong transcription	HSMM	muscle
9	chr13:111078200-111090600	Weak transcription	Gastric	stomach
10	chr13:111078200-111093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:111078200-111094600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:111078200-111095200	Weak transcription	A549	lung
13	chr13:111078200-111099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
15	chr13:111078400-111087800	Strong transcription	NH-A	brain
16	chr13:111078400-111093400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:111079200-111097600	Weak transcription	Fetal Brain Female	brain
18	chr13:111079800-111094000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:111080000-111094600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:111080600-111088000	Strong transcription	Ovary	ovary
21	chr13:111080600-111094600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr13:111080600-111095800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:111080800-111094000	Strong transcription	Fetal Intestine Large	intestine
24	chr13:111080800-111094200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:111081000-111094200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:111081200-111093000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr13:111081400-111094600	Weak transcription	Brain Germinal Matrix	brain
28	chr13:111081600-111087800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:111081800-111096600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:111082200-111087400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:111082200-111087600	Strong transcription	Fetal Intestine Small	intestine
32	chr13:111082800-111087400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr13:111082800-111087400	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr13:111082800-111087400	Genic enhancers	Fetal Muscle Leg	muscle
35	chr13:111082800-111094000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:111083600-111093000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:111083600-111095200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:111083600-111095400	Weak transcription	Brain Hippocampus Middle	brain
39	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
40	chr13:111083800-111092400	Strong transcription	NHEK	skin
41	chr13:111083800-111094000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:111084000-111088000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:111084000-111089000	Strong transcription	HMEC	breast
44	chr13:111084000-111090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:111084200-111106400	Weak transcription	Liver	Liver
46	chr13:111084400-111100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:111084800-111090200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:111084800-111098800	Strong transcription	Fetal Stomach	stomach
49	chr13:111085400-111087600	Enhancers	Psoas Muscle	Psoas
50	chr13:111085800-111087800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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