Variant report

Variant	rs11924911
Chromosome Location	chr3:100018555-100018556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1060452	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11918291	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11920015	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11923373	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12486660	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486865	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12490043	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12490140	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12492610	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12493917	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17335566	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17335614	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2171205	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277657	0.85[EUR][1000 genomes]
rs4928116	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4928117	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4928161	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4928166	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4928170	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55950446	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181320	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56311459	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57271189	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62281663	0.86[AMR][1000 genomes];0.95[EUR][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	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv869690	chr3:99984442-100054949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99980600-100037200	Weak transcription	Spleen	Spleen
2	chr3:99980600-100053200	Weak transcription	Gastric	stomach
3	chr3:99981200-100030800	Weak transcription	Fetal Heart	heart
4	chr3:99986600-100024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:99989000-100025000	Weak transcription	Fetal Brain Female	brain
6	chr3:99990600-100030600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:99990800-100021400	Weak transcription	Psoas Muscle	Psoas
8	chr3:99994400-100040800	Weak transcription	Esophagus	oesophagus
9	chr3:99995400-100019000	Weak transcription	Colonic Mucosa	Colon
10	chr3:99996000-100052800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:99996000-100053000	Weak transcription	Small Intestine	intestine
12	chr3:99996400-100025600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:99997800-100031800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:99998400-100028000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:99998600-100026400	Strong transcription	HSMM	muscle
16	chr3:99998600-100033800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:99998800-100019800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:99998800-100021800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr3:99998800-100026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:100005200-100021600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:100006000-100019800	Weak transcription	Hela-S3	cervix
22	chr3:100007000-100045000	Weak transcription	Lung	lung
23	chr3:100007800-100035800	Weak transcription	A549	lung
24	chr3:100008000-100019600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:100008200-100022200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:100008400-100022600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:100008400-100026800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:100008600-100053000	Weak transcription	Aorta	Aorta
29	chr3:100009000-100025400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:100009200-100045000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr3:100009400-100022600	Weak transcription	HSMMtube	muscle
32	chr3:100009400-100031800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:100009600-100024600	Weak transcription	HUVEC	blood vessel
34	chr3:100010600-100022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:100011000-100021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:100011600-100018600	Weak transcription	Primary B cells from cord blood	blood
37	chr3:100011600-100019000	Weak transcription	Pancreas	Pancrea
38	chr3:100011600-100025600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:100011800-100021200	Weak transcription	Thymus	Thymus
40	chr3:100011800-100025200	Weak transcription	Right Ventricle	heart
41	chr3:100011800-100028400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:100012400-100020000	Weak transcription	Fetal Stomach	stomach
43	chr3:100012400-100021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:100013200-100022000	Strong transcription	Placenta	Placenta
45	chr3:100013400-100027800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:100013600-100019800	Strong transcription	K562	blood
47	chr3:100013600-100021200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:100013600-100021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:100013600-100026600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:100013600-100028000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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