Variant report

Variant	rs4839336
Chromosome Location	chr1:114234145-114234146
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114225725..114228259-chr1:114231817..114234548,2	MCF-7	breast:
2	chr1:114225092..114226797-chr1:114232767..114235270,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12144215	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1419231	0.87[ASN][1000 genomes]
rs17031795	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17274627	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359281	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17359378	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359468	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2146018	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761934	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41352847	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4393155	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4589108	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4838993	0.90[ASN][1000 genomes]
rs4838994	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4839000	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4839327	0.82[ASN][1000 genomes]
rs4839329	0.90[ASN][1000 genomes]
rs4839330	0.89[ASN][1000 genomes]
rs4839331	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4839332	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4839333	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839341	0.85[EUR][1000 genomes]
rs6678422	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4839336	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
2	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
4	chr1:114183000-114235800	Weak transcription	Dnd41	blood
5	chr1:114202000-114241400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:114203000-114237800	Weak transcription	NH-A	brain
7	chr1:114203200-114237600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
9	chr1:114203400-114237800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:114211600-114234600	Weak transcription	Brain Germinal Matrix	brain
11	chr1:114213600-114241600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:114215400-114235800	Weak transcription	Esophagus	oesophagus
13	chr1:114215400-114235800	Weak transcription	Lung	lung
14	chr1:114216000-114247000	Weak transcription	HMEC	breast
15	chr1:114216200-114241600	Weak transcription	Pancreas	Pancrea
16	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:114216400-114250400	Weak transcription	Placenta	Placenta
18	chr1:114218000-114235800	Weak transcription	Psoas Muscle	Psoas
19	chr1:114218200-114240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
21	chr1:114220600-114234400	Weak transcription	HSMMtube	muscle
22	chr1:114220600-114235800	Weak transcription	HSMM	muscle
23	chr1:114220600-114237600	Weak transcription	Fetal Heart	heart
24	chr1:114221000-114236000	Weak transcription	A549	lung
25	chr1:114224000-114241600	Weak transcription	Left Ventricle	heart
26	chr1:114224600-114236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:114224800-114237600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:114224800-114237600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:114224800-114238000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:114225200-114243800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:114225800-114236800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:114226600-114241600	Weak transcription	Gastric	stomach
33	chr1:114226800-114237000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:114227000-114234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:114227000-114234800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:114227000-114235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:114227000-114235800	Weak transcription	NHDF-Ad	bronchial
38	chr1:114227000-114239200	Weak transcription	Aorta	Aorta
39	chr1:114227000-114268200	Weak transcription	NHLF	lung
40	chr1:114227200-114234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:114227200-114235000	Weak transcription	Primary T cells from cord blood	blood
42	chr1:114227200-114236400	Weak transcription	Fetal Intestine Large	intestine
43	chr1:114227200-114236800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:114227200-114237600	Weak transcription	Adipose Nuclei	Adipose
45	chr1:114227200-114239600	Weak transcription	Ovary	ovary
46	chr1:114227400-114236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:114227400-114237200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:114227400-114252000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:114227600-114236600	Weak transcription	Fetal Lung	lung
50	chr1:114227600-114241400	Weak transcription	Rectal Smooth Muscle	rectum

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