Variant report

Variant	rs9591231
Chromosome Location	chr13:49586766-49586767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10454623	0.89[AFR][1000 genomes]
rs7332760	1.00[AMR][1000 genomes]
rs9591233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9596050	0.89[AFR][1000 genomes]
rs9596052	0.89[AFR][1000 genomes]
rs9596055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv900067	chr13:49552271-49594818	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900068	chr13:49559790-49605774	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803100	chr13:49576474-49655941	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3375439	chr13:49585551-49589749	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49553600-49596200	Weak transcription	Ovary	ovary
3	chr13:49557000-49626800	Weak transcription	Right Ventricle	heart
4	chr13:49560000-49587600	Weak transcription	Fetal Kidney	kidney
5	chr13:49560800-49587200	Weak transcription	Small Intestine	intestine
6	chr13:49568000-49598200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:49568800-49626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:49568800-49627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:49572000-49604800	Weak transcription	Aorta	Aorta
10	chr13:49573400-49634800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:49573600-49595600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:49575000-49587200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:49576000-49587000	Weak transcription	Brain Germinal Matrix	brain
14	chr13:49576200-49595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:49578600-49587000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:49578600-49587400	Weak transcription	Fetal Lung	lung
17	chr13:49578600-49596200	Weak transcription	A549	lung
18	chr13:49578800-49587000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:49578800-49587200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:49578800-49587400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:49578800-49593200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:49578800-49593600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:49578800-49597600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:49579000-49594400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:49579000-49596200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:49579600-49589200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:49579800-49587200	Weak transcription	Brain Anterior Caudate	brain
28	chr13:49579800-49587200	Weak transcription	Lung	lung
29	chr13:49579800-49594600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr13:49579800-49595600	Weak transcription	Fetal Muscle Leg	muscle
31	chr13:49580000-49587600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr13:49580000-49593600	Weak transcription	HepG2	liver
33	chr13:49580200-49586800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr13:49580400-49587800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr13:49580600-49597800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr13:49580800-49587800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:49581200-49595600	Weak transcription	NH-A	brain
38	chr13:49581400-49595600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:49581600-49587600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:49581800-49587200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:49581800-49594400	Weak transcription	NHEK	skin
42	chr13:49581800-49606000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr13:49582000-49589200	Weak transcription	Adipose Nuclei	Adipose
44	chr13:49582000-49589200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr13:49582000-49592200	Weak transcription	HMEC	breast
46	chr13:49582000-49601200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:49582200-49588800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr13:49582400-49587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:49582400-49596400	Weak transcription	HSMMtube	muscle

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