Variant report

Variant	rs62243871
Chromosome Location	chr3:46107409-46107410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46096990..46098944-chr3:46105207..46107426,2	K562	blood:
2	chr3:46036104..46038471-chr3:46105793..46108265,2	MCF-7	breast:
3	chr3:46106956..46110561-chr3:46110945..46113902,3	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12054287	0.85[ASN][1000 genomes]
rs1388602	0.81[ASN][1000 genomes]
rs1491955	1.00[AFR][1000 genomes]
rs1491958	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2133662	0.85[ASN][1000 genomes]
rs4447807	0.85[ASN][1000 genomes]
rs62242832	0.85[ASN][1000 genomes]
rs62243872	0.90[EUR][1000 genomes]
rs62243875	0.82[ASN][1000 genomes]
rs62243876	0.82[ASN][1000 genomes]
rs6763341	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:46104200-46108400	Enhancers	Fetal Thymus	thymus
6	chr3:46104200-46110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:46104200-46110200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr3:46104200-46113600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:46104400-46111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:46104600-46114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:46104800-46109200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:46105000-46108600	Weak transcription	Spleen	Spleen
13	chr3:46105000-46109800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:46105200-46108600	Weak transcription	Aorta	Aorta
15	chr3:46105200-46111000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:46105400-46111000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:46105600-46107600	Enhancers	Fetal Heart	heart
18	chr3:46105800-46107600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:46106000-46107600	Enhancers	Right Atrium	heart
20	chr3:46106200-46107600	Bivalent Enhancer	Thymus	Thymus
21	chr3:46106400-46111200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr3:46106600-46107600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:46106600-46108200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr3:46106800-46107600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:46106800-46107600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:46106800-46107800	Enhancers	Right Ventricle	heart
27	chr3:46107000-46107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:46107000-46107600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr3:46107000-46107600	Enhancers	Placenta	Placenta
30	chr3:46107000-46107600	Enhancers	Left Ventricle	heart
31	chr3:46107000-46107600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr3:46107000-46109800	Enhancers	Psoas Muscle	Psoas
33	chr3:46107200-46107600	Enhancers	Adipose Nuclei	Adipose
34	chr3:46107200-46107600	Flanking Active TSS	Dnd41	blood
35	chr3:46107200-46109400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:46107400-46107600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:46107400-46107600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr3:46107400-46107600	Enhancers	GM12878-XiMat	blood
39	chr3:46107400-46107600	Bivalent Enhancer	NHDF-Ad	bronchial
40	chr3:46107400-46107600	Bivalent Enhancer	NHEK	skin
41	chr3:46107400-46108800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:46107400-46113800	Enhancers	Primary T cells from cord blood	blood

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