Variant report

Variant	rs838616
Chromosome Location	chr3:143182324-143182325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143181241..143183535-chr3:143191463..143193278,2	K562	blood:
2	chr3:143179159..143180857-chr3:143180887..143183705,2	K562	blood:
3	chr3:143181442..143183535-chr3:143191778..143193761,2	K562	blood:

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

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

rs_ID	r²[population]
rs1525007	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525009	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723033	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2140765	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66623546	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144723	1.00[ASN][1000 genomes]
rs838599	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838613	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838627	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838630	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838634	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838635	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838636	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838637	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838643	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838644	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838646	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838648	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838649	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs865710	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289661	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	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	chr3:143159600-143200800	Weak transcription	Esophagus	oesophagus
2	chr3:143163400-143196800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:143163600-143184000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr3:143163600-143187000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:143163800-143183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:143163800-143196400	Weak transcription	Fetal Stomach	stomach
7	chr3:143163800-143203400	Weak transcription	Ovary	ovary
8	chr3:143170000-143184400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:143170400-143185200	Weak transcription	Primary B cells from cord blood	blood
10	chr3:143174400-143220400	Weak transcription	Fetal Lung	lung
11	chr3:143176800-143220400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:143177200-143200800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:143177400-143184600	Weak transcription	Adipose Nuclei	Adipose
14	chr3:143177600-143183200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:143177800-143204400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:143178000-143203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:143179400-143185000	Weak transcription	Primary T cells from cord blood	blood
18	chr3:143179400-143220400	Weak transcription	Brain Substantia Nigra	brain
19	chr3:143179800-143185600	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:143179800-143213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:143180000-143184600	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:143180200-143185400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:143180200-143200600	Weak transcription	Aorta	Aorta
24	chr3:143180400-143187200	Weak transcription	Brain Angular Gyrus	brain
25	chr3:143180600-143190800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:143181000-143183000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:143181400-143185400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:143181400-143186000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr3:143181800-143183800	Weak transcription	Colonic Mucosa	Colon
30	chr3:143181800-143185000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:143181800-143192000	Weak transcription	Small Intestine	intestine
32	chr3:143182000-143184400	Weak transcription	Primary T cells fromperipheralblood	blood

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