Variant report

Variant	rs1217416
Chromosome Location	chr1:114400804-114400805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114352745..114355342-chr1:114397110..114401660,4	MCF-7	breast:
2	chr1:114399687..114402179-chr1:114447630..114449535,2	K562	blood:
3	chr1:114400021..114400870-chr18:66488575..66489219,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000118655	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10858017	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10858018	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10858019	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10858021	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11102691	0.81[EUR][1000 genomes]
rs12041547	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12044534	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12061482	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12063216	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1217376	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217377	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217380	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217386	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1217388	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217389	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217395	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217396	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217407	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217410	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1217412	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1217413	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217421	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230637	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230638	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1230639	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1230640	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1230642	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1230645	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1230646	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230647	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1230649	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1230656	0.89[EUR][1000 genomes]
rs1230658	0.80[EUR][1000 genomes]
rs1230659	0.80[EUR][1000 genomes]
rs1230661	0.88[EUR][1000 genomes]
rs1230678	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230679	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1230685	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1230687	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1237682	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12566340	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1599971	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1775754	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1935838	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1936398	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1981319	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2093436	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2243471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2295853	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2359167	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2488457	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2488458	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2636013	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2636014	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2797408	0.87[EUR][1000 genomes]
rs2797409	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2797412	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4145859	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4423005	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4565712	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4600045	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4838997	0.80[EUR][1000 genomes]
rs4839335	0.81[EUR][1000 genomes]
rs61817589	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537792	0.80[EUR][1000 genomes]
rs6537795	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6663679	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6698586	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7526209	0.85[ASN][1000 genomes]
rs7529353	0.87[EUR][1000 genomes]
rs7553188	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9429730	0.89[ASN][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355000-114401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:114355000-114401000	Weak transcription	Spleen	Spleen
3	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:114378000-114402600	Weak transcription	Colonic Mucosa	Colon
5	chr1:114391200-114401800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:114394400-114402200	Strong transcription	Primary T cells from cord blood	blood
7	chr1:114396600-114401600	Strong transcription	Thymus	Thymus
8	chr1:114396800-114401600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:114396800-114401600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:114396800-114402000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:114396800-114402000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:114396800-114402200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:114397000-114401600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:114397000-114401800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:114397000-114401800	Strong transcription	Fetal Thymus	thymus
16	chr1:114397000-114402400	Strong transcription	Dnd41	blood
17	chr1:114397400-114402000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:114397600-114402600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:114397800-114401800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr1:114397800-114402000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:114397800-114409800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:114399200-114402600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:114399200-114402600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:114399400-114401800	Enhancers	Primary B cells from cord blood	blood
25	chr1:114399400-114401800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:114399400-114401800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:114399400-114402000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:114399400-114402000	Weak transcription	NHEK	skin
29	chr1:114399400-114402200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:114399400-114402200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:114399400-114402600	Weak transcription	HSMM	muscle
32	chr1:114399400-114403200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:114399400-114403200	Weak transcription	HSMMtube	muscle
34	chr1:114399600-114401800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:114399600-114401800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:114399800-114401800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:114399800-114401800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:114400000-114401800	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:114400000-114402000	Enhancers	Primary hematopoietic stem cells	blood
40	chr1:114400000-114402000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:114400000-114402200	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:114400200-114401800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:114400200-114402000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:114400200-114402000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:114400200-114405600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr1:114400400-114401400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:114400800-114401000	Strong transcription	Small Intestine	intestine
48	chr1:114400800-114401800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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