Variant report

Variant	rs72992120
Chromosome Location	chr2:145089060-145089061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145068763..145071658-chr2:145087290..145089082,2	MCF-7	breast:
2	chr2:144952090..144954781-chr2:145087114..145090082,2	K562	blood:
3	chr2:145042494..145045279-chr2:145088197..145089944,2	MCF-7	breast:
4	chr2:145075632..145077862-chr2:145087295..145090103,3	K562	blood:
5	chr2:145087636..145089922-chr2:145106660..145109539,2	K562	blood:
6	chr2:145001769..145004480-chr2:145087992..145089753,2	K562	blood:

Variant related genes	Relation type
ENSG00000121964	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16823629	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55830030	1.00[AMR][1000 genomes]
rs58046208	1.00[AMR][1000 genomes]
rs60032580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992109	1.00[AMR][1000 genomes]
rs72992116	1.00[AMR][1000 genomes]
rs7587100	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
8	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
9	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
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1004937	chr2:145079535-145159021	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	esv3339969	chr2:145088932-145091180	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145078400-145089200	Weak transcription	Spleen	Spleen
2	chr2:145087600-145090400	Active TSS	Fetal Brain Male	brain
3	chr2:145087800-145089600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:145087800-145090400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:145087800-145090400	Active TSS	GM12878-XiMat	blood
6	chr2:145088000-145090600	Active TSS	Fetal Kidney	kidney
7	chr2:145088200-145089400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:145088200-145089400	Flanking Active TSS	Dnd41	blood
9	chr2:145088200-145090400	Active TSS	Fetal Muscle Leg	muscle
10	chr2:145088200-145090600	Active TSS	K562	blood
11	chr2:145088400-145089200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:145088400-145089200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:145088400-145089400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:145088400-145089400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:145088400-145089600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:145088400-145089600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:145088400-145090400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:145088400-145090400	Active TSS	Fetal Brain Female	brain
19	chr2:145088400-145090400	Active TSS	Fetal Stomach	stomach
20	chr2:145088400-145090600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:145088400-145090800	Active TSS	Right Atrium	heart
22	chr2:145088400-145091000	Active TSS	NHDF-Ad	bronchial
23	chr2:145088600-145089200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr2:145088600-145089200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr2:145088600-145089200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr2:145088600-145089200	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr2:145088600-145089200	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr2:145088600-145089200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:145088600-145089200	Flanking Active TSS	NHEK	skin
30	chr2:145088600-145089400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr2:145088600-145089400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr2:145088600-145089400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr2:145088600-145089400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:145088600-145089400	Flanking Active TSS	HUVEC	blood vessel
35	chr2:145088600-145090400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:145088600-145090400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:145088600-145090400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:145088600-145090400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:145088600-145090400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:145088600-145090400	Active TSS	Fetal Intestine Small	intestine
41	chr2:145088600-145090400	Active TSS	Fetal Muscle Trunk	muscle
42	chr2:145088600-145090400	Active TSS	Fetal Thymus	thymus
43	chr2:145088600-145090400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr2:145088600-145090400	Active TSS	HSMM	muscle
45	chr2:145088600-145090600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr2:145088600-145090600	Active TSS	Brain Angular Gyrus	brain
47	chr2:145088600-145090600	Active TSS	Fetal Lung	lung
48	chr2:145088600-145090600	Active TSS	Ovary	ovary
49	chr2:145088600-145090600	Active TSS	Psoas Muscle	Psoas
50	chr2:145088600-145090600	Active TSS	Stomach Smooth Muscle	stomach

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