Variant report

Variant	rs9647323
Chromosome Location	chr3:142886600-142886601
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	chr3:142842351..142844405-chr3:142885462..142887277,2	K562	blood:
2	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:

Variant related genes	Relation type
ENSG00000241679	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10804687	0.87[AMR][1000 genomes]
rs10935482	0.87[AMR][1000 genomes]
rs11709062	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11717285	0.89[ASN][1000 genomes]
rs1463216	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1530754	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1947236	0.84[AMR][1000 genomes]
rs2352735	0.83[AMR][1000 genomes]
rs34057904	0.87[AMR][1000 genomes]
rs4428144	0.83[AMR][1000 genomes]
rs4683752	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4683757	0.84[ASN][1000 genomes]
rs6772066	0.87[AMR][1000 genomes]
rs6776371	0.86[AMR][1000 genomes]
rs967846	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv529013	chr3:142877227-142888043	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142879600-142886600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:142881200-142888600	Enhancers	Primary T cells from cord blood	blood
3	chr3:142882000-142888400	Enhancers	Dnd41	blood
4	chr3:142882000-142891600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:142882200-142889000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:142882400-142889600	Enhancers	Fetal Thymus	thymus
7	chr3:142882800-142889200	Weak transcription	Fetal Stomach	stomach
8	chr3:142883600-142887800	Weak transcription	Primary B cells from cord blood	blood
9	chr3:142884000-142891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:142884200-142887000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:142884200-142887800	Enhancers	NHEK	skin
12	chr3:142884200-142891200	Enhancers	K562	blood
13	chr3:142884400-142886800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:142884400-142886800	Weak transcription	Spleen	Spleen
15	chr3:142884400-142888200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:142884600-142886600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:142884600-142886600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:142884600-142886600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:142884600-142886600	Weak transcription	NH-A	brain
20	chr3:142884600-142886600	Weak transcription	NHLF	lung
21	chr3:142884600-142887600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:142884600-142889000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:142884600-142889400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:142884800-142886600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr3:142884800-142888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:142884800-142889400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:142885000-142886600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:142885200-142886600	Weak transcription	HUVEC	blood vessel
29	chr3:142885200-142886600	Weak transcription	NHDF-Ad	bronchial
30	chr3:142885200-142887600	Weak transcription	Thymus	Thymus
31	chr3:142885200-142889000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr3:142885400-142887000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:142885400-142888000	Weak transcription	Fetal Lung	lung
34	chr3:142885600-142890200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:142885800-142888200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:142886000-142887800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:142886000-142888000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:142886000-142888000	Enhancers	HMEC	breast
39	chr3:142886200-142887600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:142886200-142887800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:142886200-142888600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr3:142886200-142889200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr3:142886200-142889400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr3:142886200-142889800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr3:142886400-142887800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:142886400-142887800	Enhancers	Hela-S3	cervix
47	chr3:142886400-142887800	Enhancers	Osteobl	bone
48	chr3:142886400-142888600	Weak transcription	GM12878-XiMat	blood
49	chr3:142886400-142889200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr3:142886400-142889800	Enhancers	Primary hematopoietic stem cells	blood

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