Variant report

Variant	rs34426887
Chromosome Location	chr2:184059357-184059358
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11894093	0.82[ASN][1000 genomes]
rs11900745	0.90[AFR][1000 genomes]
rs11904060	0.84[ASN][1000 genomes]
rs12105081	0.81[ASN][1000 genomes]
rs12989618	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12992879	0.81[ASN][1000 genomes]
rs12993299	0.98[ASN][1000 genomes]
rs12994342	0.81[ASN][1000 genomes]
rs13008910	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13017363	0.98[ASN][1000 genomes]
rs13023488	0.91[ASN][1000 genomes]
rs13023969	0.82[ASN][1000 genomes]
rs13024949	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1316974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806531	0.95[ASN][1000 genomes]
rs34100542	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34266937	0.98[ASN][1000 genomes]
rs34424877	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34591399	0.95[ASN][1000 genomes]
rs34743637	0.81[ASN][1000 genomes]
rs34767214	0.84[ASN][1000 genomes]
rs34921390	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs34967913	0.87[ASN][1000 genomes]
rs35220507	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35290003	0.84[ASN][1000 genomes]
rs35479161	0.94[ASN][1000 genomes]
rs35661877	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35672629	0.84[ASN][1000 genomes]
rs35799804	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35873918	0.84[ASN][1000 genomes]
rs35898950	0.81[AFR][1000 genomes]
rs36021851	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs36054361	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36100240	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36116390	0.82[AFR][1000 genomes]
rs3748884	0.85[ASN][1000 genomes]
rs3762477	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55865107	0.93[AFR][1000 genomes]
rs6434007	0.88[ASN][1000 genomes]
rs6434008	0.89[ASN][1000 genomes]
rs6434009	0.89[ASN][1000 genomes]
rs6705625	0.97[ASN][1000 genomes]
rs6705795	0.85[ASN][1000 genomes]
rs6709753	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6715963	0.84[ASN][1000 genomes]
rs6724387	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6729425	0.91[ASN][1000 genomes]
rs6730009	0.91[ASN][1000 genomes]
rs6732406	0.81[ASN][1000 genomes]
rs6740679	0.98[ASN][1000 genomes]
rs6748218	0.91[ASN][1000 genomes]
rs6754938	0.82[ASN][1000 genomes]
rs6755399	0.81[AFR][1000 genomes]
rs6758182	0.91[ASN][1000 genomes]
rs6759975	0.81[ASN][1000 genomes]
rs71427875	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71427877	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71427878	0.90[ASN][1000 genomes]
rs71427880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73977848	0.91[ASN][1000 genomes]
rs7571226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587081	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7592910	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7597557	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9917390	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
2	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:184044000-184063000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:184044400-184071600	Weak transcription	NH-A	brain
5	chr2:184047800-184059600	Weak transcription	Hela-S3	cervix
6	chr2:184047800-184078400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:184048600-184059800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:184048800-184071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:184049000-184062200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:184049000-184072000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:184049000-184072600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:184049000-184078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:184049400-184059600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:184049400-184062600	Weak transcription	HMEC	breast
15	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
16	chr2:184050600-184059400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:184050600-184060800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:184050600-184066000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:184050600-184071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:184050800-184062400	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:184051400-184062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:184052200-184059800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:184052400-184060200	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:184052400-184066200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:184052400-184071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:184052400-184071400	Weak transcription	Aorta	Aorta
27	chr2:184053000-184070200	Weak transcription	Brain Germinal Matrix	brain
28	chr2:184053000-184072000	Weak transcription	Left Ventricle	heart
29	chr2:184053000-184074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:184053200-184060000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:184053200-184076000	Weak transcription	Pancreas	Pancrea
32	chr2:184053600-184059800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:184053800-184059600	Weak transcription	GM12878-XiMat	blood
34	chr2:184053800-184062200	Weak transcription	Fetal Intestine Small	intestine
35	chr2:184053800-184064000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:184053800-184067400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:184054000-184060000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:184054000-184060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:184054000-184070600	Weak transcription	HepG2	liver
40	chr2:184054000-184071800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:184054000-184076200	Weak transcription	Primary B cells from cord blood	blood
42	chr2:184054200-184060600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:184054600-184062400	Weak transcription	Ovary	ovary
44	chr2:184054600-184067600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:184055000-184069200	Weak transcription	Liver	Liver
46	chr2:184055600-184071600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:184055600-184076400	Weak transcription	Primary T cells from cord blood	blood
48	chr2:184055800-184062000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:184056200-184062400	Weak transcription	Adipose Nuclei	Adipose
50	chr2:184056400-184062000	Weak transcription	HSMM	muscle

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