Variant report

Variant	rs6430051
Chromosome Location	chr2:144910613-144910614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144909008..144910995-chr2:144934770..144936322,2	K562	blood:
2	chr2:144910287..144911946-chr2:144917070..144919325,2	K562	blood:
3	chr2:144909064..144910928-chr2:144912495..144915157,2	K562	blood:
4	chr2:144904358..144906463-chr2:144910174..144912005,2	K562	blood:
5	chr2:144758525..144761304-chr2:144910263..144913200,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10496958	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496959	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496960	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823490	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823495	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823497	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823498	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823501	0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823512	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823515	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823517	0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823525	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823539	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823540	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823544	1.00[AMR][1000 genomes]
rs16823552	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823556	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823563	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823564	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16855310	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2042997	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430052	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6760118	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006270	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006274	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006276	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006287	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006290	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006298	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006302	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008213	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008238	1.00[AMR][1000 genomes]
rs73008245	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008250	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571370	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575019	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585915	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586117	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7595013	0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
2	chr2:144891800-144917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:144892200-144914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:144901800-144911800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:144901800-144913800	Weak transcription	Osteobl	bone
6	chr2:144901800-144922200	Weak transcription	Fetal Kidney	kidney
7	chr2:144902000-144931200	Weak transcription	Primary B cells from cord blood	blood
8	chr2:144903600-144913200	Weak transcription	Ovary	ovary
9	chr2:144908000-144912000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:144908600-144914800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:144909000-144910800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:144909400-144910800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:144909600-144910800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:144909600-144911000	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:144909600-144911000	Enhancers	HUVEC	blood vessel
16	chr2:144909600-144911400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:144909800-144912000	Enhancers	NHLF	lung
18	chr2:144909800-144914400	Weak transcription	Psoas Muscle	Psoas
19	chr2:144910000-144910800	Enhancers	NH-A	brain
20	chr2:144910000-144914400	Weak transcription	Right Atrium	heart
21	chr2:144910000-144914400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:144910200-144910800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:144910200-144910800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:144910200-144910800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:144910200-144910800	Enhancers	NHDF-Ad	bronchial
26	chr2:144910400-144910800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:144910400-144910800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:144910400-144910800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:144910400-144910800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:144910400-144910800	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:144910400-144910800	Flanking Active TSS	K562	blood
32	chr2:144910400-144914800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:144910600-144912600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:144910600-144914400	Weak transcription	HSMM	muscle

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