Variant report

Variant	rs10935487
Chromosome Location	chr3:143027200-143027201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143018946..143021692-chr3:143026388..143029368,2	K562	blood:
2	chr3:143026689..143032158-chr3:143032635..143039297,9	K562	blood:
3	chr3:143026085..143028072-chr3:143030136..143031917,2	K562	blood:
4	chr3:142918145..142921332-chr3:143025862..143029822,3	K562	blood:

Variant related genes	Relation type
ENSG00000240888	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10935486	0.81[AMR][1000 genomes]
rs1112189	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488603	0.81[EUR][1000 genomes]
rs12493473	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574671	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574746	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17636943	0.82[EUR][1000 genomes]
rs6796961	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6799793	0.81[EUR][1000 genomes]
rs73008231	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv520125	chr3:143020870-143029022	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:143021200-143029000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:143021800-143029000	Weak transcription	Fetal Kidney	kidney
5	chr3:143022000-143032400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:143022400-143032200	Weak transcription	Fetal Thymus	thymus
7	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
8	chr3:143022600-143027600	Weak transcription	Placenta	Placenta
9	chr3:143022600-143030000	Weak transcription	HSMMtube	muscle
10	chr3:143024000-143027200	Enhancers	HUVEC	blood vessel
11	chr3:143025000-143027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:143025600-143040000	Weak transcription	Right Atrium	heart
13	chr3:143026200-143027200	Flanking Active TSS	K562	blood
14	chr3:143026400-143027200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:143026400-143027800	Enhancers	GM12878-XiMat	blood
16	chr3:143026600-143028400	Weak transcription	Adipose Nuclei	Adipose
17	chr3:143026600-143028400	Weak transcription	Fetal Lung	lung
18	chr3:143026600-143028600	Weak transcription	Esophagus	oesophagus
19	chr3:143026600-143033200	Weak transcription	HSMM	muscle
20	chr3:143026600-143047400	Weak transcription	Spleen	Spleen
21	chr3:143026800-143028600	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:143026800-143029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:143026800-143032600	Weak transcription	Right Ventricle	heart
24	chr3:143027000-143028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:143027000-143028400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:143027000-143028400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:143027000-143028600	Weak transcription	Ovary	ovary
28	chr3:143027000-143029000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:143027000-143030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:143027000-143031200	Weak transcription	Dnd41	blood
31	chr3:143027000-143032600	Weak transcription	Left Ventricle	heart
32	chr3:143027200-143028600	Enhancers	K562	blood

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