Variant report

Variant	rs73962041
Chromosome Location	chr2:145342524-145342525
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:145342248..145344380-chr2:146310984..146313309,2	K562	blood:
2	chr2:145338348..145347477-chr2:145350435..145356314,14	K562	blood:
3	chr2:145340447..145342607-chr2:145352516..145354672,3	K562	blood:
4	chr2:145341981..145344209-chr2:145363216..145365343,2	K562	blood:
5	chr2:145255733..145257269-chr2:145342387..145344635,2	K562	blood:
6	chr2:145089150..145090719-chr2:145340805..145343692,2	K562	blood:
7	chr2:145264650..145290093-chr2:145328018..145347614,89	K562	blood:
8	chr2:145260780..145283431-chr2:145335698..145347428,65	K562	blood:
9	chr2:145340725..145342679-chr2:145364744..145367552,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000121964	Chromatin interaction
ENSG00000238057	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1158330	0.81[AFR][1000 genomes]
rs1159677	0.81[AFR][1000 genomes]
rs11689575	1.00[ASN][1000 genomes]
rs1256912	0.81[AFR][1000 genomes]
rs1256915	0.81[AFR][1000 genomes]
rs1559963	1.00[ASN][1000 genomes]
rs4384720	1.00[ASN][1000 genomes]
rs4662228	0.81[AFR][1000 genomes]
rs57477957	1.00[ASN][1000 genomes]
rs57628678	0.81[AFR][1000 genomes]
rs57834922	1.00[ASN][1000 genomes]
rs58504774	1.00[ASN][1000 genomes]
rs58811157	1.00[ASN][1000 genomes]
rs59042570	1.00[ASN][1000 genomes]
rs66537831	1.00[ASN][1000 genomes]
rs6718158	1.00[ASN][1000 genomes]
rs6720379	1.00[ASN][1000 genomes]
rs67382063	1.00[ASN][1000 genomes]
rs6752912	1.00[ASN][1000 genomes]
rs68017203	1.00[ASN][1000 genomes]
rs72852118	1.00[ASN][1000 genomes]
rs72852120	1.00[ASN][1000 genomes]
rs72852133	1.00[ASN][1000 genomes]
rs72993904	1.00[ASN][1000 genomes]
rs72993910	1.00[ASN][1000 genomes]
rs72997876	1.00[ASN][1000 genomes]
rs72999719	1.00[ASN][1000 genomes]
rs72999723	1.00[ASN][1000 genomes]
rs72999734	1.00[ASN][1000 genomes]
rs72999737	1.00[ASN][1000 genomes]
rs72999751	1.00[ASN][1000 genomes]
rs72999753	1.00[ASN][1000 genomes]
rs73001719	1.00[ASN][1000 genomes]
rs73001730	1.00[ASN][1000 genomes]
rs73001732	1.00[ASN][1000 genomes]
rs73001735	1.00[ASN][1000 genomes]
rs73001749	1.00[ASN][1000 genomes]
rs73001751	1.00[ASN][1000 genomes]
rs73001753	1.00[ASN][1000 genomes]
rs73001755	1.00[ASN][1000 genomes]
rs73001758	1.00[ASN][1000 genomes]
rs73962030	0.81[AFR][1000 genomes]
rs73962031	0.81[AFR][1000 genomes]
rs73962032	0.81[AFR][1000 genomes]
rs73962033	0.81[AFR][1000 genomes]
rs73962037	0.81[AFR][1000 genomes]
rs73962038	0.81[AFR][1000 genomes]
rs73962039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73962045	0.86[AFR][1000 genomes]
rs73962047	0.83[AFR][1000 genomes]
rs73962048	0.83[AFR][1000 genomes]
rs73962052	0.80[AFR][1000 genomes]
rs73962053	0.80[AFR][1000 genomes]
rs73963904	1.00[ASN][1000 genomes]
rs7595770	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS 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	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145339200-145342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:145339600-145349400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:145340000-145352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:145340200-145342600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:145341200-145342600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:145341200-145342600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:145341200-145342600	Enhancers	Osteobl	bone
8	chr2:145341200-145343000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:145341200-145348600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:145341200-145352800	Weak transcription	Right Atrium	heart
11	chr2:145341400-145342600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:145341400-145342600	Enhancers	HMEC	breast
13	chr2:145341400-145343800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:145341400-145344000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:145341400-145345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:145341600-145342600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:145341600-145342600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:145341600-145342600	Enhancers	NHEK	skin
19	chr2:145341600-145345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:145341800-145344000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:145341800-145350200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:145342400-145342600	Enhancers	NHLF	lung
23	chr2:145342400-145342800	Genic enhancers	K562	blood

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