Variant report

Variant	rs73006289
Chromosome Location	chr2:144872477-144872478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144871415..144873570-chr2:144877450..144879140,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10183920	1.00[EUR][1000 genomes]
rs10496958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496959	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823453	0.80[AFR][1000 genomes]
rs16823456	0.82[AFR][1000 genomes]
rs16823490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823501	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823517	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823539	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823540	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823563	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823609	1.00[EUR][1000 genomes]
rs16855310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2042997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55830030	1.00[EUR][1000 genomes]
rs6430051	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732179	1.00[EUR][1000 genomes]
rs6733058	0.82[AFR][1000 genomes]
rs6736292	0.80[AFR][1000 genomes]
rs6760118	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992109	1.00[EUR][1000 genomes]
rs73006237	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006242	0.80[AFR][1000 genomes]
rs73006270	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006274	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006302	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008221	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008238	1.00[AMR][1000 genomes]
rs73008245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008248	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008250	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586117	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587100	1.00[EUR][1000 genomes]
rs7595013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144868400-144883400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:144869200-144872600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:144869200-144880800	Weak transcription	Fetal Stomach	stomach
4	chr2:144869400-144873000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:144869400-144899000	Weak transcription	Aorta	Aorta
6	chr2:144869800-144882400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:144870200-144895200	Weak transcription	HSMMtube	muscle
8	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
9	chr2:144870400-144872800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:144870400-144873000	Weak transcription	Fetal Lung	lung
11	chr2:144870400-144877000	Weak transcription	Pancreas	Pancrea
12	chr2:144870400-144882200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:144870600-144877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:144870600-144891400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
17	chr2:144871800-144873600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:144871800-144873800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:144872000-144873600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
21	chr2:144872200-144873600	Enhancers	NHDF-Ad	bronchial
22	chr2:144872200-144873600	Enhancers	NHLF	lung
23	chr2:144872200-144873600	Enhancers	Osteobl	bone
24	chr2:144872200-144895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:144872400-144873800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:144872400-144874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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