Variant report

Variant	rs1217421
Chromosome Location	chr1:114402846-114402847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114402229..114405131-chr1:114407085..114409932,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10858017	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10858018	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10858019	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10858021	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11102669	0.85[EUR][1000 genomes]
rs11102689	0.85[EUR][1000 genomes]
rs11102691	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1146182	0.86[EUR][1000 genomes]
rs1146187	0.86[EUR][1000 genomes]
rs12041547	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12044534	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12061482	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12063216	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217210	0.86[EUR][1000 genomes]
rs1217376	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217377	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217380	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217386	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1217388	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217389	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217395	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217396	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1217412	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217413	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1217416	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230637	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1230638	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230639	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230640	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230642	0.81[ASN][1000 genomes]
rs1230645	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230646	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1230647	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230649	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230655	0.86[EUR][1000 genomes]
rs1230658	0.86[EUR][1000 genomes]
rs1230659	0.86[EUR][1000 genomes]
rs1230663	0.81[EUR][1000 genomes]
rs1230671	0.86[EUR][1000 genomes]
rs1230678	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230679	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230683	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1230685	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230687	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1237682	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12566340	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1599971	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1743605	0.86[EUR][1000 genomes]
rs1775754	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1777234	0.83[EUR][1000 genomes]
rs1777237	0.86[EUR][1000 genomes]
rs1777238	0.86[EUR][1000 genomes]
rs1777241	0.86[EUR][1000 genomes]
rs1935838	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1936398	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1981319	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2093436	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2243471	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295853	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2359167	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2488457	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2488458	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636013	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2636014	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2797408	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2797409	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2797412	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2798135	0.85[EUR][1000 genomes]
rs2798138	0.85[EUR][1000 genomes]
rs4145859	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4423005	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4565712	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4600045	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4838997	0.86[EUR][1000 genomes]
rs4838998	0.82[ASN][1000 genomes]
rs4839335	0.88[EUR][1000 genomes]
rs61817589	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6537792	0.86[EUR][1000 genomes]
rs6537795	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6663679	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6698586	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7526209	0.91[ASN][1000 genomes]
rs7529353	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7553188	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9429730	0.80[AMR][1000 genomes];0.95[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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114355800-114413000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:114397800-114409800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:114399400-114403200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:114399400-114403200	Weak transcription	HSMMtube	muscle
5	chr1:114400200-114405600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:114401400-114403200	Weak transcription	Small Intestine	intestine
7	chr1:114401600-114403800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:114401600-114406000	Weak transcription	Thymus	Thymus
9	chr1:114401600-114409000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:114401600-114412000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:114401800-114403000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:114401800-114403200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr1:114401800-114403200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:114401800-114403400	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:114401800-114404000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:114401800-114404600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:114401800-114410800	Weak transcription	Fetal Thymus	thymus
18	chr1:114402000-114403400	Enhancers	NHEK	skin
19	chr1:114402000-114403800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:114402000-114403800	Enhancers	NHDF-Ad	bronchial
21	chr1:114402000-114404000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:114402200-114403200	Enhancers	NH-A	brain
23	chr1:114402200-114403400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:114402200-114403400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:114402200-114403400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:114402200-114403600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:114402200-114403800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:114402200-114404000	Enhancers	HMEC	breast
29	chr1:114402200-114404200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:114402200-114405400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:114402400-114403200	Enhancers	Osteobl	bone
32	chr1:114402400-114403400	Enhancers	HUVEC	blood vessel
33	chr1:114402400-114404600	Genic enhancers	Primary T cells from cord blood	blood
34	chr1:114402400-114406000	Weak transcription	Dnd41	blood
35	chr1:114402600-114403000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:114402600-114403000	Enhancers	NHLF	lung
37	chr1:114402600-114403400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:114402600-114403600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr1:114402600-114403800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:114402600-114403800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:114402600-114403800	Enhancers	HSMM	muscle
42	chr1:114402600-114404400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr1:114402600-114404600	Enhancers	K562	blood
44	chr1:114402600-114405800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:114402600-114405800	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:114402800-114403000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:114402800-114403200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:114402800-114403400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:114402800-114403600	Flanking Active TSS	GM12878-XiMat	blood
50	chr1:114402800-114403800	Enhancers	Primary hematopoietic stem cells	blood

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