Variant report

Variant	rs72893162
Chromosome Location	chr2:64364244-64364245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64361298..64364735-chr2:64368847..64372376,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225889	Chromatin interaction
ENSG00000197329	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17028475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028507	0.84[AFR][1000 genomes]
rs17028509	0.80[AFR][1000 genomes]
rs17028510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17039958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41322849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41438647	0.98[AFR][1000 genomes]
rs60643329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893138	0.80[AFR][1000 genomes]
rs72893140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893152	1.00[AFR][1000 genomes]
rs72893157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893168	0.84[AFR][1000 genomes]
rs72893170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv1004574	chr2:64360195-64478171	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
2	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:64342000-64365200	Weak transcription	Left Ventricle	heart
5	chr2:64347400-64368800	Weak transcription	Spleen	Spleen
6	chr2:64348400-64364600	Weak transcription	Adipose Nuclei	Adipose
7	chr2:64348400-64366400	Weak transcription	Right Atrium	heart
8	chr2:64348600-64365200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:64350400-64364600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:64351400-64364400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:64354600-64365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:64355400-64368800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:64355800-64364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:64356200-64368600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:64356400-64365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:64356400-64368200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:64356400-64368800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:64357200-64367000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:64357200-64368200	Weak transcription	Liver	Liver
20	chr2:64357200-64369600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:64357800-64366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:64357800-64367000	Weak transcription	HepG2	liver
23	chr2:64358200-64364600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:64358800-64365000	Weak transcription	Fetal Intestine Large	intestine
25	chr2:64359000-64368800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:64359000-64368800	Weak transcription	Right Ventricle	heart
27	chr2:64359200-64366200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:64359400-64365400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:64359400-64365600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:64359400-64368600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:64360000-64365200	Weak transcription	Fetal Thymus	thymus
32	chr2:64360000-64366800	Enhancers	NHDF-Ad	bronchial
33	chr2:64360200-64364600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:64360600-64365200	Weak transcription	Fetal Intestine Small	intestine
35	chr2:64360600-64368800	Weak transcription	Fetal Stomach	stomach
36	chr2:64361000-64365800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:64361400-64365200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:64361400-64365400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr2:64361400-64368800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:64361600-64365800	Enhancers	Brain Anterior Caudate	brain
41	chr2:64361800-64370000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:64362000-64366800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:64362200-64368600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:64362400-64365200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:64362400-64366800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:64362400-64368000	Weak transcription	Fetal Lung	lung
47	chr2:64362400-64368800	Weak transcription	NH-A	brain
48	chr2:64362600-64364400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:64362600-64364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:64362600-64364600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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