Variant report

Variant	rs2358816
Chromosome Location	chr1:114419368-114419369
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10858017	0.82[EUR][1000 genomes]
rs10858018	0.81[EUR][1000 genomes]
rs10858019	0.82[EUR][1000 genomes]
rs11102691	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs12041547	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs12044534	0.82[EUR][1000 genomes]
rs12061482	0.82[EUR][1000 genomes]
rs12063216	0.82[EUR][1000 genomes]
rs1217376	0.83[EUR][1000 genomes]
rs1217377	0.84[EUR][1000 genomes]
rs1217380	0.84[EUR][1000 genomes]
rs1217388	0.84[EUR][1000 genomes]
rs1217389	0.84[EUR][1000 genomes]
rs1217395	0.84[EUR][1000 genomes]
rs1217396	0.84[EUR][1000 genomes]
rs1217407	0.80[JPT][hapmap];0.85[EUR][1000 genomes]
rs1217410	0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs1217412	0.84[EUR][1000 genomes]
rs1217413	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1217416	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1217421	0.84[EUR][1000 genomes]
rs1230637	0.87[EUR][1000 genomes]
rs1230638	0.81[EUR][1000 genomes]
rs1230639	0.81[EUR][1000 genomes]
rs1230640	0.80[EUR][1000 genomes]
rs1230645	0.80[EUR][1000 genomes]
rs1230646	0.88[EUR][1000 genomes]
rs1230656	0.82[EUR][1000 genomes]
rs1230661	0.82[EUR][1000 genomes]
rs1230678	0.82[EUR][1000 genomes]
rs1230679	0.82[EUR][1000 genomes]
rs1230685	0.82[EUR][1000 genomes]
rs1230687	0.81[EUR][1000 genomes]
rs1237682	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12566340	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1599971	0.84[EUR][1000 genomes]
rs1775754	0.84[EUR][1000 genomes]
rs1981319	0.80[EUR][1000 genomes]
rs2093436	0.80[EUR][1000 genomes]
rs2243471	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2358994	0.84[CHB][hapmap]
rs2359167	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2488457	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2488458	0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs2636013	0.80[EUR][1000 genomes]
rs2636014	0.80[EUR][1000 genomes]
rs2797408	0.82[EUR][1000 genomes]
rs2797409	0.82[EUR][1000 genomes]
rs2797412	0.82[EUR][1000 genomes]
rs36052758	1.00[YRI][hapmap]
rs3761936	0.84[CHB][hapmap]
rs3789612	1.00[YRI][hapmap]
rs4145859	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs4423005	0.80[EUR][1000 genomes]
rs4565712	0.82[EUR][1000 genomes]
rs4600045	0.80[EUR][1000 genomes]
rs61817589	0.90[EUR][1000 genomes]
rs6537795	0.82[EUR][1000 genomes]
rs6663679	0.80[EUR][1000 genomes]
rs7529353	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7553188	0.80[EUR][1000 genomes]

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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers 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	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription 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 miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114415400-114428800	Weak transcription	Colonic Mucosa	Colon
3	chr1:114415400-114437000	Weak transcription	Thymus	Thymus
4	chr1:114417000-114423600	Weak transcription	Stomach Mucosa	stomach
5	chr1:114417200-114437000	Weak transcription	Primary B cells from cord blood	blood
6	chr1:114417400-114421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:114417400-114421800	Weak transcription	Dnd41	blood
8	chr1:114417600-114421000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:114417600-114421000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:114417600-114421800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:114417600-114422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:114417600-114423600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:114417600-114428800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:114417800-114421000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:114417800-114421400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:114417800-114421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:114417800-114421800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:114417800-114423200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:114418200-114421000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:114418200-114421000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:114418200-114421600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:114418600-114421200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:114418600-114421600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:114418800-114421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:114418800-114421000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:114418800-114421600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:114418800-114422000	Weak transcription	Small Intestine	intestine
28	chr1:114419000-114421000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:114419000-114421200	Weak transcription	GM12878-XiMat	blood
30	chr1:114419000-114421600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:114419000-114421800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:114419000-114422000	Weak transcription	Fetal Intestine Large	intestine
33	chr1:114419000-114422000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:114419000-114427800	Weak transcription	Pancreas	Pancrea
35	chr1:114419200-114419600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:114419200-114419600	Weak transcription	Fetal Intestine Small	intestine
37	chr1:114419200-114421000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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