Variant report

Variant	rs838649
Chromosome Location	chr3:143203620-143203621
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	chr3:143193715..143198774-chr3:143199748..143204167,7	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1525007	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1525009	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1723033	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2140765	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66623546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs708484	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838599	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs838602	0.85[EUR][1000 genomes]
rs838613	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs838616	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838618	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838620	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838622	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838623	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838627	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs838630	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs838634	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838635	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838636	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838637	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838643	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs838644	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs838646	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs838648	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs865710	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9289661	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs940636	0.81[CEU][hapmap]

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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143174400-143220400	Weak transcription	Fetal Lung	lung
2	chr3:143176800-143220400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:143177800-143204400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:143179400-143220400	Weak transcription	Brain Substantia Nigra	brain
5	chr3:143179800-143213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr3:143185800-143213800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:143186000-143215600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:143186000-143223000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:143186400-143204400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:143191200-143211000	Weak transcription	Primary T cells from cord blood	blood
11	chr3:143191400-143231000	Weak transcription	Primary B cells from cord blood	blood
12	chr3:143192400-143211400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:143192400-143215200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr3:143196600-143203800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:143197400-143203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:143199600-143203800	Weak transcription	NH-A	brain
17	chr3:143199800-143205200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:143200200-143213800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:143200800-143204000	Weak transcription	Aorta	Aorta
20	chr3:143201800-143203800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:143201800-143203800	Weak transcription	Osteobl	bone
22	chr3:143201800-143226400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:143202000-143203800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:143202200-143203800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:143202200-143203800	Weak transcription	NHDF-Ad	bronchial
26	chr3:143202200-143211800	Weak transcription	Esophagus	oesophagus
27	chr3:143203200-143204000	Enhancers	HSMM	muscle
28	chr3:143203200-143204200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:143203400-143204200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:143203400-143204200	Enhancers	Ovary	ovary
31	chr3:143203600-143203800	Enhancers	A549	lung
32	chr3:143203600-143203800	Weak transcription	K562	blood

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