Variant report

Variant	rs2146018
Chromosome Location	chr1:114195330-114195331
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114194523..114197911-chr1:114198408..114201889,3	K562	blood:
2	chr1:114189711..114191330-chr1:114193397..114195766,2	MCF-7	breast:
3	chr1:114183983..114185528-chr1:114194793..114196565,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12144215	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1419231	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17031795	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17274627	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17359281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359378	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17359468	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17461918	0.82[ASN][1000 genomes]
rs17508449	0.81[ASN][1000 genomes]
rs3761934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41352847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4393155	0.85[EUR][1000 genomes]
rs4589108	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4838993	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4838994	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4839000	0.82[EUR][1000 genomes]
rs4839327	0.84[ASN][1000 genomes]
rs4839329	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4839330	0.91[ASN][1000 genomes]
rs4839331	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4839332	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4839333	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839336	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4839341	0.83[EUR][1000 genomes]
rs6678422	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514649	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
3	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
4	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
5	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:114173800-114196200	Weak transcription	Gastric	stomach
7	chr1:114173800-114199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:114173800-114201800	Weak transcription	Colonic Mucosa	Colon
9	chr1:114173800-114201800	Weak transcription	Lung	lung
10	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
11	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
13	chr1:114181200-114199400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:114181800-114199800	Weak transcription	Fetal Brain Female	brain
15	chr1:114182000-114219600	Weak transcription	Fetal Kidney	kidney
16	chr1:114182200-114197600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:114182600-114206200	Weak transcription	Hela-S3	cervix
18	chr1:114182800-114201800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:114182800-114201800	Weak transcription	Fetal Brain Male	brain
20	chr1:114182800-114217400	Weak transcription	NHDF-Ad	bronchial
21	chr1:114183000-114196200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:114183000-114200000	Weak transcription	HSMMtube	muscle
23	chr1:114183000-114201200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:114183000-114235800	Weak transcription	Dnd41	blood
25	chr1:114183200-114199600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:114183400-114195400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:114183400-114199800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:114183400-114215800	Weak transcription	Fetal Lung	lung
29	chr1:114183600-114199200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:114183600-114216400	Weak transcription	A549	lung
31	chr1:114184400-114199600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:114184600-114204800	Weak transcription	Psoas Muscle	Psoas
33	chr1:114184800-114199800	Weak transcription	Brain Anterior Caudate	brain
34	chr1:114184800-114201800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:114185000-114199600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:114185200-114199400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:114185200-114224400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:114185400-114200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:114185400-114201200	Weak transcription	Brain Angular Gyrus	brain
40	chr1:114185400-114214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:114185400-114228000	Weak transcription	HepG2	liver
42	chr1:114185800-114223600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:114186600-114195400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:114186800-114200000	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:114187400-114201800	Weak transcription	Primary T cells from cord blood	blood
46	chr1:114187600-114196800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:114188200-114201800	Weak transcription	Small Intestine	intestine
48	chr1:114188200-114202800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:114189000-114197200	Strong transcription	Liver	Liver
50	chr1:114190000-114199400	Weak transcription	Fetal Heart	heart

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