Variant report

Variant	rs12140958
Chromosome Location	chr1:56935680-56935681
allele	A/G
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: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10888973	0.90[EUR][1000 genomes]
rs11206813	0.94[EUR][1000 genomes]
rs11206820	0.87[EUR][1000 genomes]
rs11206821	0.87[EUR][1000 genomes]
rs11206822	0.97[EUR][1000 genomes]
rs11206826	0.91[EUR][1000 genomes]
rs12128107	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12138516	0.86[EUR][1000 genomes]
rs12736058	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12739002	0.86[EUR][1000 genomes]
rs12755498	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12755655	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2780866	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2780869	0.86[EUR][1000 genomes]
rs4128921	0.82[EUR][1000 genomes]
rs4628	0.81[CEU][hapmap]
rs6672624	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6676745	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6682210	0.85[EUR][1000 genomes]
rs6682251	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6684123	0.82[EUR][1000 genomes]
rs6687845	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6690687	0.84[EUR][1000 genomes]
rs6698812	0.80[EUR][1000 genomes]
rs7418187	0.82[EUR][1000 genomes]
rs7522127	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7539463	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9803856	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9803955	0.94[EUR][1000 genomes];0.85[ASN][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:40 , 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	chr1:56915200-56935800	Weak transcription	NHLF	lung
4	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
5	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
6	chr1:56929200-56935800	Weak transcription	HepG2	liver
7	chr1:56929400-56942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:56931200-56935800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:56931400-56936000	Weak transcription	Stomach Mucosa	stomach
10	chr1:56931400-56939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:56931800-56936400	Weak transcription	Fetal Kidney	kidney
12	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:56932400-56935800	Weak transcription	Spleen	Spleen
14	chr1:56932600-56936200	Weak transcription	Liver	Liver
15	chr1:56934200-56936600	Enhancers	NHDF-Ad	bronchial
16	chr1:56934400-56942400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:56934400-56942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:56934600-56935800	Weak transcription	Fetal Lung	lung
19	chr1:56934600-56937200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:56934600-56942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:56934800-56936800	Enhancers	Adipose Nuclei	Adipose
22	chr1:56934800-56939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
24	chr1:56935000-56937400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:56935000-56939800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:56935000-56939800	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:56935200-56936000	Weak transcription	Primary B cells from cord blood	blood
28	chr1:56935200-56938800	Weak transcription	Fetal Stomach	stomach
29	chr1:56935200-56939000	Weak transcription	Right Atrium	heart
30	chr1:56935200-56939400	Weak transcription	Left Ventricle	heart
31	chr1:56935200-56939800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:56935200-56942400	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:56935400-56936000	Enhancers	Small Intestine	intestine
34	chr1:56935400-56936000	Enhancers	Osteobl	bone
35	chr1:56935400-56936400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:56935400-56936800	Enhancers	Brain Hippocampus Middle	brain
37	chr1:56935400-56937200	Enhancers	HUVEC	blood vessel
38	chr1:56935400-56939600	Weak transcription	Lung	lung
39	chr1:56935600-56936200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:56935600-56936200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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