Variant report

Variant	rs16853469
Chromosome Location	chr3:143071075-143071076
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143067407..143070275-chr3:143070777..143072704,2	K562	blood:
2	chr3:143070031..143071586-chr3:143073564..143076244,2	K562	blood:
3	chr3:143068671..143071346-chr3:143094512..143096094,2	K562	blood:
4	chr3:143063232..143067878-chr3:143069249..143072270,4	K562	blood:
5	chr3:143032733..143035249-chr3:143069425..143071800,2	K562	blood:

Variant related genes	Relation type
ENSG00000240888	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1501625	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16846341	0.85[YRI][hapmap]
rs16853439	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16853457	0.92[AMR][1000 genomes]
rs4839623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6775025	1.00[CEU][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73144721	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73144729	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73144735	0.81[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	nsv877564	chr3:143059952-143116883	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143063600-143076400	Weak transcription	Brain Anterior Caudate	brain
2	chr3:143068000-143071600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:143068000-143072000	Weak transcription	Placenta	Placenta
4	chr3:143068200-143071600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:143068200-143071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:143068200-143078400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:143068200-143091800	Weak transcription	Lung	lung
8	chr3:143068400-143071200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:143068800-143082000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:143069000-143080800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:143069000-143081600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:143069200-143071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:143069200-143080600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:143069600-143072400	Enhancers	Dnd41	blood
15	chr3:143069800-143081200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:143070000-143072600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:143070200-143088600	Weak transcription	Aorta	Aorta
18	chr3:143070400-143072400	Enhancers	Primary B cells from cord blood	blood
19	chr3:143070800-143071200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:143070800-143071200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:143070800-143071200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:143070800-143071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:143070800-143071200	Enhancers	Fetal Lung	lung
24	chr3:143070800-143071200	Enhancers	Right Atrium	heart
25	chr3:143070800-143071400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:143070800-143071400	Enhancers	Left Ventricle	heart
27	chr3:143070800-143071400	Enhancers	Ovary	ovary
28	chr3:143070800-143071800	Enhancers	Primary T cells from cord blood	blood
29	chr3:143070800-143072000	Enhancers	HUVEC	blood vessel
30	chr3:143070800-143072200	Enhancers	Spleen	Spleen
31	chr3:143070800-143072400	Enhancers	Primary B cells from peripheral blood	blood
32	chr3:143070800-143072400	Enhancers	Fetal Thymus	thymus
33	chr3:143071000-143071200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:143071000-143071800	Weak transcription	Fetal Kidney	kidney
35	chr3:143071000-143072200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:143071000-143072200	Enhancers	Adipose Nuclei	Adipose
37	chr3:143071000-143072200	Weak transcription	Brain Substantia Nigra	brain
38	chr3:143071000-143072200	Enhancers	HSMMtube	muscle
39	chr3:143071000-143072400	Enhancers	HUES6 Cell Line	embryonic stem cell

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