Variant report

Variant	rs16948250
Chromosome Location	chr12:118753250-118753251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10507286	0.85[CEU][hapmap]
rs1060964	1.00[CEU][hapmap]
rs10850967	1.00[CEU][hapmap]
rs10850968	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11068853	0.84[CHB][hapmap]
rs11068854	0.83[CHB][hapmap]
rs11068855	0.83[CHB][hapmap]
rs11068856	0.84[CHB][hapmap]
rs11068860	0.82[CHB][hapmap]
rs11068864	0.83[CHB][hapmap]
rs11068865	0.83[CHB][hapmap]
rs11068880	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs11068891	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11068893	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs11068898	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs11068900	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs11068901	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs11068904	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs11068908	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11068909	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs11068915	0.89[CHB][hapmap]
rs11068916	0.89[CHB][hapmap]
rs11068917	0.93[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11068919	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap]
rs11068923	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs11068933	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11068937	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12227411	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs12227974	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs12228425	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs12229607	0.93[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs16948193	0.92[CEU][hapmap]
rs16948197	0.93[CEU][hapmap]
rs16948204	0.93[CEU][hapmap]
rs16948230	0.86[CEU][hapmap]
rs16948234	0.93[CEU][hapmap]
rs17440315	0.85[CEU][hapmap]
rs17440336	0.85[CEU][hapmap]
rs17440364	0.85[CEU][hapmap]
rs17440433	0.85[CEU][hapmap]
rs17440669	1.00[CEU][hapmap]
rs17440774	1.00[CEU][hapmap]
rs17440823	0.92[CEU][hapmap]
rs17440893	1.00[CEU][hapmap]
rs17440942	1.00[CEU][hapmap]
rs17440956	1.00[CEU][hapmap]
rs17441033	0.92[CEU][hapmap]
rs17441061	1.00[CEU][hapmap]
rs17441075	0.93[CEU][hapmap]
rs17512142	0.85[CEU][hapmap]
rs17512177	0.84[CEU][hapmap]
rs17512198	0.85[CEU][hapmap]
rs17512219	0.86[CEU][hapmap]
rs17512407	0.93[CEU][hapmap]
rs17512483	1.00[CEU][hapmap]
rs17512525	1.00[CEU][hapmap]
rs17512574	0.93[CEU][hapmap]
rs17512609	0.93[CEU][hapmap]
rs17512644	1.00[CEU][hapmap]
rs17512652	1.00[CEU][hapmap]
rs17512763	1.00[CEU][hapmap]
rs17586342	0.85[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap]
rs17586582	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17619569	0.83[CHB][hapmap]
rs17619702	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs17619805	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17619932	0.93[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2055534	1.00[CEU][hapmap]
rs2062519	1.00[CEU][hapmap]
rs2271007	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2280711	0.85[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap]
rs2784	1.00[CEU][hapmap]
rs4766899	1.00[CEU][hapmap]
rs4766900	1.00[CEU][hapmap]
rs4767669	1.00[CEU][hapmap]
rs4767670	1.00[CEU][hapmap]
rs4767671	1.00[CEU][hapmap]
rs4767672	1.00[CEU][hapmap]
rs6490173	0.93[CEU][hapmap]
rs6490177	1.00[CEU][hapmap]
rs7136216	0.85[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap]
rs7136676	1.00[CEU][hapmap]
rs7137055	1.00[CEU][hapmap]
rs7294498	1.00[CEU][hapmap]
rs7295288	1.00[CEU][hapmap]
rs7299040	1.00[CEU][hapmap]
rs7302387	0.92[CEU][hapmap]
rs7303417	0.93[CEU][hapmap]
rs7304342	1.00[CEU][hapmap]
rs7305647	1.00[CEU][hapmap]
rs7307393	1.00[CEU][hapmap]
rs7309484	1.00[CEU][hapmap]
rs7309671	1.00[CEU][hapmap]
rs7312555	1.00[CEU][hapmap]
rs7314987	0.93[CEU][hapmap]
rs7961312	0.93[CEU][hapmap]
rs7962185	0.93[CEU][hapmap]
rs7965350	0.93[CEU][hapmap]
rs7967900	0.93[CEU][hapmap]
rs7974718	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs884844	1.00[CEU][hapmap]
rs965524	1.00[CEU][hapmap]
rs9888447	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs9943819	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118738200-118761800	Weak transcription	Fetal Lung	lung
4	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:118746400-118754800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:118746600-118756000	Weak transcription	HUVEC	blood vessel
12	chr12:118746600-118766600	Weak transcription	HSMM	muscle
13	chr12:118747000-118754400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:118747000-118759200	Weak transcription	Lung	lung
15	chr12:118748000-118756400	Weak transcription	K562	blood
16	chr12:118748000-118772400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:118749200-118754000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:118749200-118765800	Weak transcription	Psoas Muscle	Psoas
19	chr12:118749600-118753800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:118750600-118753600	Weak transcription	NHLF	lung
21	chr12:118750600-118754200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:118750600-118754600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:118750600-118758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:118750800-118753400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:118750800-118753400	Weak transcription	Osteobl	bone
26	chr12:118750800-118753600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:118750800-118753600	Weak transcription	NHDF-Ad	bronchial
28	chr12:118750800-118754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:118751000-118753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:118751000-118754000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:118751000-118757600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:118751800-118753800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:118752200-118754600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:118752400-118754000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:118752400-118755400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:118752400-118765600	Weak transcription	Primary B cells from cord blood	blood
37	chr12:118752600-118753400	Enhancers	GM12878-XiMat	blood
38	chr12:118752600-118756200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:118752800-118759000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:118752800-118763800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:118752800-118766400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:118753000-118753600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:118753000-118754000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:118753000-118754200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:118753000-118754600	Enhancers	NHEK	skin
47	chr12:118753200-118756600	Weak transcription	Primary hematopoietic stem cells	blood

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