Variant report

Variant	rs2993540
Chromosome Location	chr1:212118366-212118367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211853999..211854852-chr1:212117864..212118396,2	MCF-7	breast:
2	chr1:211871629..211872244-chr1:212118224..212119112,2	MCF-7	breast:
3	chr1:212110628..212113045-chr1:212117241..212119498,2	K562	blood:
4	chr1:211914429..211915403-chr1:212117830..212118697,3	MCF-7	breast:
5	chr1:211871408..211872238-chr1:212117782..212118707,5	MCF-7	breast:
6	chr1:212117014..212118681-chr1:212119464..212122299,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs10863927	0.82[EUR][1000 genomes]
rs10863933	1.00[AMR][1000 genomes]
rs10863934	1.00[AMR][1000 genomes]
rs10863938	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10863940	1.00[AMR][1000 genomes]
rs11119818	0.82[EUR][1000 genomes]
rs11119819	0.82[EUR][1000 genomes]
rs1418047	1.00[CEU][hapmap]
rs1586660	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs2000168	1.00[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs2050953	0.85[CEU][hapmap]
rs2105322	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2788128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788129	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788131	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788134	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788135	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2788136	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788137	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788141	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2788142	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2788144	0.91[EUR][1000 genomes]
rs2788146	0.91[EUR][1000 genomes]
rs2808376	0.91[EUR][1000 genomes]
rs2808377	0.91[EUR][1000 genomes]
rs2808380	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs2808382	0.81[GIH][hapmap]
rs2808383	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2808384	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808388	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs2808390	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475044	0.82[EUR][1000 genomes]
rs28851183	0.82[EUR][1000 genomes]
rs2970573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970574	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970576	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2970581	0.91[EUR][1000 genomes]
rs2970585	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2970588	1.00[AMR][1000 genomes]
rs2970590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2970591	1.00[AMR][1000 genomes]
rs2970594	1.00[AMR][1000 genomes]
rs2970597	1.00[AMR][1000 genomes]
rs2970598	1.00[AMR][1000 genomes]
rs2970600	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993525	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2993526	1.00[AMR][1000 genomes]
rs2993527	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2993530	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993532	0.94[EUR][1000 genomes]
rs2993535	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs2993536	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993537	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2993542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993543	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2993546	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2993548	1.00[AMR][1000 genomes]
rs2993549	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs3009983	1.00[AMR][1000 genomes]
rs3009986	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009990	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009994	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009998	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[EUR][1000 genomes]
rs3010008	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3010015	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3010017	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010018	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3010019	1.00[AMR][1000 genomes]
rs3010020	1.00[AMR][1000 genomes]
rs3010021	1.00[AMR][1000 genomes]
rs3010022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3010029	1.00[TSI][hapmap]
rs4397712	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs4508084	0.82[EUR][1000 genomes]
rs4579825	0.82[EUR][1000 genomes]
rs4951427	1.00[CEU][hapmap]
rs4951429	0.82[EUR][1000 genomes]
rs4951430	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4951432	0.82[EUR][1000 genomes]
rs4951437	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs4951547	1.00[CEU][hapmap]
rs4951549	1.00[CEU][hapmap]
rs4951565	1.00[AMR][1000 genomes]
rs6540710	0.82[EUR][1000 genomes]
rs6540717	1.00[AMR][1000 genomes]
rs6540718	1.00[AMR][1000 genomes]
rs6656826	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6658972	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6660399	1.00[AMR][1000 genomes]
rs6669803	1.00[CEU][hapmap]
rs6672030	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6672393	1.00[CEU][hapmap]
rs6683980	1.00[AMR][1000 genomes]
rs6685282	0.82[EUR][1000 genomes]
rs6689342	0.82[EUR][1000 genomes]
rs6693275	1.00[CEU][hapmap]
rs6697341	0.82[EUR][1000 genomes]
rs6699292	1.00[CEU][hapmap]
rs6699981	0.82[EUR][1000 genomes]
rs6704044	1.00[AMR][1000 genomes]
rs7413558	0.82[EUR][1000 genomes]
rs7517565	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7532954	1.00[AMR][1000 genomes]
rs7545292	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs7545377	0.82[EUR][1000 genomes]
rs7551276	1.00[AMR][1000 genomes]

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212102600-212120400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:212103000-212132600	Weak transcription	Gastric	stomach
3	chr1:212103600-212132200	Weak transcription	Esophagus	oesophagus
4	chr1:212103800-212132200	Weak transcription	NHLF	lung
5	chr1:212104800-212124400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212106200-212148600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:212106400-212132400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:212106400-212132600	Weak transcription	Right Ventricle	heart
9	chr1:212106400-212147800	Weak transcription	NH-A	brain
10	chr1:212107000-212132800	Weak transcription	Pancreas	Pancrea
11	chr1:212108000-212132400	Weak transcription	Spleen	Spleen
12	chr1:212109200-212118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:212109200-212132800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212112000-212132200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:212112000-212170200	Weak transcription	Small Intestine	intestine
16	chr1:212112200-212124600	Weak transcription	Aorta	Aorta
17	chr1:212112400-212132200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:212112400-212132800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:212112400-212133000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:212112400-212148600	Weak transcription	NHDF-Ad	bronchial
21	chr1:212112600-212118600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:212112600-212120800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:212112600-212132200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:212112600-212133600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:212112600-212148200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:212112800-212202000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:212113200-212118400	Strong transcription	K562	blood
28	chr1:212113400-212122400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:212113400-212126600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:212113600-212122600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:212113600-212122600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:212113600-212125000	Weak transcription	Brain Anterior Caudate	brain
33	chr1:212113600-212138600	Weak transcription	Fetal Kidney	kidney
34	chr1:212113600-212151600	Weak transcription	Psoas Muscle	Psoas
35	chr1:212113600-212170200	Weak transcription	Fetal Brain Male	brain
36	chr1:212113800-212121000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:212113800-212122800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:212114000-212120600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:212114200-212185800	Weak transcription	Brain Angular Gyrus	brain
40	chr1:212114400-212118600	Strong transcription	Primary T cells from cord blood	blood
41	chr1:212114400-212118800	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:212114400-212120000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:212114400-212123000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:212114800-212120000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr1:212114800-212120400	Strong transcription	Hela-S3	cervix
46	chr1:212115000-212118600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:212115000-212119600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:212115000-212120600	Strong transcription	Dnd41	blood
49	chr1:212115000-212120800	Strong transcription	Fetal Thymus	thymus
50	chr1:212115200-212118600	Strong transcription	Fetal Lung	lung

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