Variant report

Variant	rs12138516
Chromosome Location	chr1:56936655-56936656
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	chr1:56935156..56937645-chr1:56940992..56943740,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10789023	0.82[ASN][1000 genomes]
rs10789024	0.80[ASN][1000 genomes]
rs11206812	0.92[EUR][1000 genomes]
rs11206813	0.83[EUR][1000 genomes]
rs11206816	0.85[ASN][1000 genomes]
rs11206817	0.85[ASN][1000 genomes]
rs11206818	0.85[ASN][1000 genomes]
rs11206822	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11206823	0.86[ASN][1000 genomes]
rs11206825	0.84[ASN][1000 genomes]
rs11206826	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12128107	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12140958	0.86[EUR][1000 genomes]
rs12736058	0.80[EUR][1000 genomes]
rs12739002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12755498	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12755655	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2780866	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4128921	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4628	0.96[YRI][hapmap]
rs4912291	0.86[ASN][1000 genomes]
rs6672624	0.80[EUR][1000 genomes]
rs6676745	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6682210	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682251	0.85[EUR][1000 genomes]
rs6684123	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6687845	0.80[EUR][1000 genomes]
rs6690687	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7418187	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7522127	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7525717	0.82[ASN][1000 genomes]
rs7539463	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9803856	0.80[EUR][1000 genomes]
rs9803955	0.83[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
4	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
5	chr1:56929400-56942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56931400-56939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:56934400-56942400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:56934400-56942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:56934600-56937200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:56934600-56942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:56934800-56936800	Enhancers	Adipose Nuclei	Adipose
13	chr1:56934800-56939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
15	chr1:56935000-56937400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:56935000-56939800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:56935000-56939800	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:56935200-56938800	Weak transcription	Fetal Stomach	stomach
19	chr1:56935200-56939000	Weak transcription	Right Atrium	heart
20	chr1:56935200-56939400	Weak transcription	Left Ventricle	heart
21	chr1:56935200-56939800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:56935200-56942400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:56935400-56936800	Enhancers	Brain Hippocampus Middle	brain
24	chr1:56935400-56937200	Enhancers	HUVEC	blood vessel
25	chr1:56935400-56939600	Weak transcription	Lung	lung
26	chr1:56935800-56937400	Enhancers	Fetal Lung	lung
27	chr1:56935800-56939400	Enhancers	HepG2	liver
28	chr1:56936000-56937200	Enhancers	Primary B cells from cord blood	blood
29	chr1:56936000-56937200	Enhancers	Stomach Mucosa	stomach
30	chr1:56936000-56942600	Weak transcription	Osteobl	bone
31	chr1:56936200-56937800	Weak transcription	GM12878-XiMat	blood
32	chr1:56936200-56938600	Weak transcription	Brain Anterior Caudate	brain
33	chr1:56936200-56939000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:56936200-56939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:56936400-56936800	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:56936400-56938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:56936400-56939000	Weak transcription	Brain Germinal Matrix	brain
38	chr1:56936400-56939000	Weak transcription	Spleen	Spleen
39	chr1:56936400-56939000	Weak transcription	NHLF	lung
40	chr1:56936400-56939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:56936400-56939400	Weak transcription	Fetal Heart	heart
42	chr1:56936400-56942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:56936600-56938600	Weak transcription	Liver	Liver
44	chr1:56936600-56939000	Weak transcription	NHDF-Ad	bronchial
45	chr1:56936600-56942600	Weak transcription	Fetal Kidney	kidney

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