Variant report

Variant	rs72683680
Chromosome Location	chr1:78147738-78147739
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:78147509..78148240-chr3:5020035..5020725,2	Hela-S3	cervix:
2	chr1:78145583..78147793-chr1:78472821..78475048,2	K562	blood:
3	chr1:78097767..78100222-chr1:78147051..78150017,2	MCF-7	breast:
4	chr1:78147609..78151437-chr1:78443386..78446443,6	K562	blood:
5	chr1:78147147..78150004-chr1:78244021..78245784,2	MCF-7	breast:
6	chr1:77996828..77998774-chr1:78147470..78149282,2	K562	blood:
7	chr1:78147124..78149248-chr20:43975465..43978447,2	MCF-7	breast:
8	chr1:78147072..78148946-chr1:78468394..78471551,4	K562	blood:
9	chr1:78020809..78023858-chr1:78146827..78149846,3	K562	blood:
10	chr1:78145748..78147951-chr1:78468436..78470274,2	K562	blood:
11	chr1:78146715..78149884-chr1:78444203..78446027,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000222849	Chromatin interaction
ENSG00000162613	Chromatin interaction
ENSG00000154027	Chromatin interaction
ENSG00000137960	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000180488	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000124145	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12145949	1.00[AFR][1000 genomes]
rs17381128	1.00[EUR][1000 genomes]
rs17381238	1.00[EUR][1000 genomes]
rs56259955	0.81[AMR][1000 genomes]
rs6657424	0.92[EUR][1000 genomes]
rs6702968	0.92[EUR][1000 genomes]
rs72681687	1.00[AFR][1000 genomes]
rs72683614	1.00[EUR][1000 genomes]
rs72683621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683632	1.00[EUR][1000 genomes]
rs72683638	1.00[EUR][1000 genomes]
rs72683639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683647	1.00[EUR][1000 genomes]
rs72683657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683700	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685313	1.00[EUR][1000 genomes]
rs72685315	1.00[EUR][1000 genomes]
rs72685332	1.00[AFR][1000 genomes]
rs7517486	0.92[EUR][1000 genomes]
rs7546981	0.92[EUR][1000 genomes]
rs7550626	0.92[EUR][1000 genomes]
rs9661264	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
7	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78145600-78149000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:78146200-78149400	Active TSS	K562	blood
3	chr1:78146200-78149800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:78146400-78149400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:78146400-78149400	Active TSS	HMEC	breast
6	chr1:78146400-78149600	Active TSS	GM12878-XiMat	blood
7	chr1:78146800-78147800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:78146800-78147800	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr1:78146800-78148200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr1:78146800-78149400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:78146800-78149600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:78146800-78149600	Active TSS	A549	lung
13	chr1:78146800-78149800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:78146800-78150000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:78146800-78150000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:78146800-78150000	Active TSS	Fetal Brain Female	brain
17	chr1:78146800-78150200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:78147000-78148200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:78147000-78148400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:78147000-78149200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:78147000-78149400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:78147000-78149400	Active TSS	NHDF-Ad	bronchial
23	chr1:78147000-78149400	Active TSS	NHLF	lung
24	chr1:78147000-78149600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:78147000-78149600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:78147000-78149800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:78147000-78149800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:78147000-78149800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:78147000-78149800	Active TSS	Fetal Kidney	kidney
30	chr1:78147000-78150000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:78147000-78150200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:78147000-78150200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:78147000-78150200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:78147200-78147800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:78147200-78147800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:78147200-78147800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:78147200-78147800	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr1:78147200-78147800	Flanking Active TSS	Thymus	Thymus
39	chr1:78147200-78147800	Enhancers	Spleen	Spleen
40	chr1:78147200-78148000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:78147200-78148200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:78147200-78148200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:78147200-78149200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:78147200-78149200	Active TSS	Stomach Smooth Muscle	stomach
45	chr1:78147200-78149400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:78147200-78149400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:78147200-78149400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:78147200-78149400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:78147200-78149400	Active TSS	Brain Cingulate Gyrus	brain
50	chr1:78147200-78149400	Active TSS	HSMM	muscle

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