Variant report

Variant	rs11888134
Chromosome Location	chr2:100000533-100000534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10187843	0.83[EUR][1000 genomes]
rs11123786	0.83[EUR][1000 genomes]
rs11679115	0.82[EUR][1000 genomes]
rs11683651	0.83[EUR][1000 genomes]
rs11887109	0.80[EUR][1000 genomes]
rs11902994	0.82[EUR][1000 genomes]
rs12464535	0.83[EUR][1000 genomes]
rs12623540	0.83[EUR][1000 genomes]
rs13389623	0.83[EUR][1000 genomes]
rs2242037	0.80[EUR][1000 genomes]
rs2290256	0.83[EUR][1000 genomes]
rs2305354	0.82[EUR][1000 genomes]
rs28382954	0.81[EUR][1000 genomes]
rs3828316	0.83[EUR][1000 genomes]
rs4535093	0.80[EUR][1000 genomes]
rs4850903	0.83[EUR][1000 genomes]
rs4851205	0.80[EUR][1000 genomes]
rs6717515	0.80[EUR][1000 genomes]
rs7558074	0.83[EUR][1000 genomes]
rs7561079	0.83[EUR][1000 genomes]
rs7574135	0.83[EUR][1000 genomes]
rs7579403	0.83[EUR][1000 genomes]
rs7585721	0.83[EUR][1000 genomes]
rs7586892	0.83[EUR][1000 genomes]
rs7587419	0.83[EUR][1000 genomes]
rs7591212	0.83[EUR][1000 genomes]
rs7601470	0.83[EUR][1000 genomes]
rs7601730	0.83[EUR][1000 genomes]

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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11888134	REV1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99956200-100004800	Weak transcription	Fetal Heart	heart
2	chr2:99975400-100006400	Weak transcription	Stomach Mucosa	stomach
3	chr2:99976200-100003800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:99976200-100004400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:99976400-100003200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:99976600-100002400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr2:99976600-100004800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:99977000-100001000	Strong transcription	Primary B cells from cord blood	blood
9	chr2:99977000-100001400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:99977000-100003200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:99977000-100003200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:99977000-100003600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:99977000-100003800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:99977000-100003800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:99977600-100002200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:99977600-100003600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:99978200-100011800	Weak transcription	Esophagus	oesophagus
18	chr2:99979400-100001600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:99979400-100003600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:99979400-100004200	Strong transcription	Fetal Thymus	thymus
21	chr2:99979600-100002800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:99979600-100003200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:99979600-100009600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:99979800-100002200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:99979800-100002800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:99983200-100013600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:99985600-100006800	Weak transcription	Colonic Mucosa	Colon
28	chr2:99988000-100003200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:99988200-100001400	Strong transcription	K562	blood
30	chr2:99988400-100001400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:99988400-100001400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:99989000-100003200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:99990000-100006600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:99990000-100012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:99990200-100010800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:99990600-100006600	Weak transcription	Pancreas	Pancrea
37	chr2:99990600-100010800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:99990600-100010800	Weak transcription	Spleen	Spleen
39	chr2:99990800-100004600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:99990800-100007000	Weak transcription	Gastric	stomach
41	chr2:99991200-100003600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:99991400-100001200	Strong transcription	NH-A	brain
43	chr2:99991400-100002400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:99991400-100002400	Strong transcription	Primary T cells from cord blood	blood
45	chr2:99991400-100003200	Strong transcription	Dnd41	blood
46	chr2:99992000-100001600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:99992000-100003000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:99992200-100003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:99993200-100002800	Weak transcription	Lung	lung
50	chr2:99993200-100006600	Weak transcription	H9 Cell Line	embryonic stem cell

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