Variant report

Variant	rs73008203
Chromosome Location	chr2:144896550-144896551
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144895471..144897745-chr2:144898659..144900274,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10183920	1.00[EUR][1000 genomes]
rs10496958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823495	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823497	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823501	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823512	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823515	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823539	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823552	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823609	1.00[EUR][1000 genomes]
rs16855310	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2042997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55830030	1.00[EUR][1000 genomes]
rs6430051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732179	1.00[EUR][1000 genomes]
rs6760118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992109	1.00[EUR][1000 genomes]
rs73006237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006270	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006290	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008206	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008238	1.00[AMR][1000 genomes]
rs73008245	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008248	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586117	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587100	1.00[EUR][1000 genomes]
rs7595013	0.95[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144869400-144899000	Weak transcription	Aorta	Aorta
2	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
3	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
5	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
6	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
8	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:144874400-144897000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
11	chr2:144877200-144903200	Weak transcription	Ovary	ovary
12	chr2:144883200-144908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:144891600-144902400	Weak transcription	Fetal Brain Male	brain
14	chr2:144891800-144917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:144892000-144903000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:144892200-144914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:144894400-144897200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:144894400-144898600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:144894800-144896600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:144895200-144896600	Enhancers	HSMM	muscle
21	chr2:144895800-144896600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:144895800-144900400	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:144895800-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:144895800-144901200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:144895800-144901600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:144895800-144902400	Weak transcription	HSMMtube	muscle
27	chr2:144895800-144910000	Weak transcription	NH-A	brain
28	chr2:144896000-144901600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:144896200-144896600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:144896200-144898200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:144896200-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:144896400-144898000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:144896400-144898000	Weak transcription	NHLF	lung
34	chr2:144896400-144901200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:144896400-144909800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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