Variant report

Variant	rs664984
Chromosome Location	chr13:110805715-110805716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1151422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13378451	1.00[CHB][hapmap]
rs595240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs641862	0.90[AFR][1000 genomes]
rs682881	1.00[CHB][hapmap]

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	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv901007	chr13:110793123-110813709	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region miRNA target site	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	chr13:110791200-110807200	Weak transcription	Colonic Mucosa	Colon
2	chr13:110791200-110811600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:110791200-110811800	Weak transcription	Right Atrium	heart
4	chr13:110791200-110825600	Weak transcription	Esophagus	oesophagus
5	chr13:110791400-110806600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr13:110791400-110812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:110791400-110813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:110791400-110820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:110791400-110825800	Weak transcription	A549	lung
10	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
11	chr13:110795800-110826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:110796000-110809200	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:110797800-110809200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr13:110798200-110808600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:110798400-110825400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:110798600-110808200	Strong transcription	Aorta	Aorta
17	chr13:110798800-110825600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:110799000-110807800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:110799000-110821200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:110799600-110840200	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr13:110799800-110807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:110799800-110811600	Strong transcription	Left Ventricle	heart
24	chr13:110800000-110810400	Strong transcription	HUVEC	blood vessel
25	chr13:110800000-110824800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:110800000-110825800	Strong transcription	Ovary	ovary
27	chr13:110800200-110837800	Strong transcription	NH-A	brain
28	chr13:110800400-110807400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:110800600-110809000	Strong transcription	Right Ventricle	heart
30	chr13:110800600-110834200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr13:110800800-110806000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr13:110800800-110808600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr13:110800800-110821800	Strong transcription	Placenta	Placenta
34	chr13:110801000-110807600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:110801000-110809600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:110801000-110818400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:110801000-110822600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:110801400-110807400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:110801400-110808800	Strong transcription	Fetal Lung	lung
40	chr13:110801800-110807200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr13:110801800-110807600	Weak transcription	Brain Germinal Matrix	brain
42	chr13:110802200-110807200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:110802400-110806600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr13:110802400-110808000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:110802400-110822000	Strong transcription	Colon Smooth Muscle	Colon
46	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:110802600-110808400	Strong transcription	Fetal Stomach	stomach
48	chr13:110802800-110806200	Weak transcription	Fetal Kidney	kidney
49	chr13:110802800-110807600	Strong transcription	Fetal Intestine Large	intestine
50	chr13:110802800-110807800	Strong transcription	Lung	lung

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