Variant report

Variant	rs1418047
Chromosome Location	chr1:211963729-211963730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211957822..211959614-chr1:211962525..211964186,2	K562	blood:
2	chr1:211956372..211959322-chr1:211961904..211964025,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10863927	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11119809	1.00[AFR][1000 genomes]
rs11119818	0.94[EUR][1000 genomes]
rs11119819	0.94[EUR][1000 genomes]
rs1539196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2000168	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050953	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2105322	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2788130	1.00[CEU][hapmap]
rs2788131	1.00[CEU][hapmap]
rs2788135	1.00[CEU][hapmap]
rs2788136	1.00[CEU][hapmap]
rs2788137	1.00[CEU][hapmap]
rs2788141	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2788142	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2788144	0.86[EUR][1000 genomes]
rs2788146	0.86[EUR][1000 genomes]
rs2808376	0.86[EUR][1000 genomes]
rs2808377	0.86[EUR][1000 genomes]
rs2808383	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2808384	1.00[CEU][hapmap]
rs2808390	1.00[CEU][hapmap]
rs28475044	0.94[EUR][1000 genomes]
rs28801990	0.82[EUR][1000 genomes]
rs28851183	0.94[EUR][1000 genomes]
rs2970574	1.00[CEU][hapmap]
rs2970576	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2970581	0.86[EUR][1000 genomes]
rs2993536	1.00[CEU][hapmap]
rs2993540	1.00[CEU][hapmap]
rs2993543	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap]
rs3010000	1.00[CEU][hapmap]
rs3010001	1.00[CEU][hapmap]
rs3010005	1.00[CEU][hapmap]
rs3010008	1.00[CEU][hapmap]
rs4245744	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4508084	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4579825	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4951427	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4951429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951430	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4951432	0.94[EUR][1000 genomes]
rs4951547	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4951549	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60146950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540707	1.00[AFR][1000 genomes]
rs6540710	0.94[EUR][1000 genomes]
rs6656780	1.00[AFR][1000 genomes]
rs6664386	0.94[EUR][1000 genomes]
rs6669803	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6672393	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685282	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6689342	0.94[EUR][1000 genomes]
rs6693275	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6697341	0.94[EUR][1000 genomes]
rs6699292	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6699981	0.94[EUR][1000 genomes]
rs7413558	0.94[EUR][1000 genomes]
rs7517565	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7545377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7553567	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947158	chr1:211961270-211967493	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211912600-211964600	Weak transcription	NHEK	skin
2	chr1:211912800-211970200	Weak transcription	HMEC	breast
3	chr1:211913800-211967800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:211913800-211968800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:211913800-211969600	Weak transcription	Small Intestine	intestine
6	chr1:211914000-211965400	Weak transcription	Thymus	Thymus
7	chr1:211914000-211973600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:211915800-211991800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:211916200-211965400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:211916800-211994200	Weak transcription	Fetal Brain Male	brain
11	chr1:211917000-211970400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:211919200-212001200	Weak transcription	Gastric	stomach
13	chr1:211922600-211965600	Weak transcription	Osteobl	bone
14	chr1:211922800-211964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:211922800-211965400	Weak transcription	Right Ventricle	heart
16	chr1:211923000-211967200	Weak transcription	Colonic Mucosa	Colon
17	chr1:211923000-211991800	Weak transcription	HSMM	muscle
18	chr1:211923200-211967200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:211924000-212002400	Weak transcription	NHLF	lung
20	chr1:211931600-211964800	Weak transcription	Fetal Kidney	kidney
21	chr1:211935800-211969000	Weak transcription	Fetal Heart	heart
22	chr1:211936000-211966800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:211936400-211968200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:211938200-211999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:211939600-211978200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:211939600-211992600	Weak transcription	Esophagus	oesophagus
27	chr1:211939800-212002400	Weak transcription	HSMMtube	muscle
28	chr1:211940000-211965200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:211940000-212000600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:211940200-211964600	Weak transcription	Lung	lung
31	chr1:211940800-211964800	Weak transcription	Aorta	Aorta
32	chr1:211943200-211971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:211943400-211972000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:211945800-211979000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:211946200-211984200	Weak transcription	NH-A	brain
36	chr1:211946800-211966600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:211947400-212002400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:211950000-211987000	Weak transcription	Fetal Thymus	thymus
39	chr1:211950600-211971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:211950800-211971200	Weak transcription	Placenta	Placenta
41	chr1:211951200-211964400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:211951400-211964200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:211951400-211965200	Weak transcription	Fetal Brain Female	brain
44	chr1:211951400-211965400	Weak transcription	Primary T cells from cord blood	blood
45	chr1:211951400-211966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:211951400-211978800	Weak transcription	Fetal Lung	lung
47	chr1:211951400-211992600	Weak transcription	Ovary	ovary
48	chr1:211952000-211964200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:211952200-212003000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:211952400-211964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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