Variant report

Variant	rs1530266
Chromosome Location	chr3:142888606-142888607
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	chr3:142887670..142889227-chr3:142893884..142896662,2	K562	blood:
2	chr3:142882417..142885348-chr3:142887165..142889309,2	K562	blood:

Variant related genes	Relation type
ENSG00000211483	Chromatin interaction
ENSG00000244171	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10513192	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs10935483	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs12489438	0.82[CHB][hapmap]
rs12490261	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1449867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683758	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7649342	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142882000-142891600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:142882200-142889000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr3:142882400-142889600	Enhancers	Fetal Thymus	thymus
4	chr3:142882800-142889200	Weak transcription	Fetal Stomach	stomach
5	chr3:142884000-142891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:142884200-142891200	Enhancers	K562	blood
7	chr3:142884600-142889000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr3:142884600-142889400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:142884800-142889400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:142885200-142889000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:142885600-142890200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:142886200-142889200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:142886200-142889400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:142886200-142889800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:142886400-142889200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:142886400-142889800	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:142886600-142889200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:142886600-142889200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:142886600-142890400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:142886800-142890400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:142886800-142891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:142887000-142889000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:142887400-142889200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:142887600-142889200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:142887600-142889200	Enhancers	Thymus	Thymus
26	chr3:142887600-142889400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:142887600-142889400	Weak transcription	HSMM	muscle
28	chr3:142887600-142889600	Weak transcription	NHDF-Ad	bronchial
29	chr3:142887600-142891400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:142887800-142889000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:142887800-142889000	Weak transcription	NH-A	brain
32	chr3:142887800-142889000	Weak transcription	Osteobl	bone
33	chr3:142887800-142889200	Weak transcription	NHLF	lung
34	chr3:142887800-142889400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:142887800-142889400	Weak transcription	Hela-S3	cervix
36	chr3:142887800-142889400	Weak transcription	NHEK	skin
37	chr3:142887800-142891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:142887800-142891800	Enhancers	Primary B cells from cord blood	blood
39	chr3:142888000-142889000	Enhancers	Fetal Lung	lung
40	chr3:142888000-142889000	Weak transcription	HMEC	breast
41	chr3:142888000-142889200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:142888000-142889400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:142888000-142889400	Weak transcription	HUVEC	blood vessel
44	chr3:142888000-142891200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:142888200-142889800	Enhancers	Spleen	Spleen
46	chr3:142888200-142891400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:142888200-142891800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:142888400-142890200	Flanking Active TSS	Dnd41	blood
49	chr3:142888600-142888800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr3:142888600-142889000	Enhancers	Duodenum Smooth Muscle	Duodenum

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