Variant report

Variant	rs2479386
Chromosome Location	chr1:151385438-151385439
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151318007..151320260-chr1:151384925..151386522,2	MCF-7	breast:
2	chr1:151377630..151380310-chr1:151382827..151386169,3	K562	blood:
3	chr1:151319407..151322212-chr1:151384935..151387557,2	K562	blood:
4	chr1:151373885..151375953-chr1:151382352..151386017,5	K562	blood:
5	chr1:151385306..151388195-chr1:151394874..151397227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237976	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1539494	1.00[AMR][1000 genomes]
rs2479381	1.00[AMR][1000 genomes]
rs2479384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495379	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495391	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3001839	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4246528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4970952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9436030	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers 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	53 gene(s)	inside rSNPs	diseases
5	nsv872424	chr1:151325055-151413180	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv872425	chr1:151325055-151413790	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2756864	chr1:151328794-151411635	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2758969	chr1:151328794-151411635	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv872428	chr1:151329138-151395782	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv872429	chr1:151329138-151413180	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv8380	chr1:151329887-151410346	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv824575	chr1:151331533-151408096	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv463761	chr1:151333167-151404848	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv463772	chr1:151333167-151404848	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv463783	chr1:151333167-151404848	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv463794	chr1:151333167-151404848	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv463805	chr1:151333167-151404848	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv463816	chr1:151333167-151404848	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv470737	chr1:151333167-151404848	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv547849	chr1:151333167-151404848	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv818467	chr1:151333167-151404848	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv463827	chr1:151333167-151413180	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv547850	chr1:151333167-151413180	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv1011398	chr1:151333430-151402839	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv872430	chr1:151334796-151413180	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
26	nsv441714	chr1:151336699-151397878	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
27	nsv463839	chr1:151338570-151404848	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
28	nsv547851	chr1:151338570-151404848	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
29	nsv872431	chr1:151338570-151413180	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
30	nsv872432	chr1:151339196-151413180	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
31	nsv872433	chr1:151341417-151413180	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
32	nsv872434	chr1:151347820-151413180	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
33	nsv872435	chr1:151351060-151413180	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
34	nsv872436	chr1:151357333-151413180	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
35	nsv872437	chr1:151373065-151413180	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
36	nsv872438	chr1:151377407-151413180	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	25 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	chr1:151373200-151388000	Strong transcription	Fetal Kidney	kidney
2	chr1:151373400-151389400	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr1:151373400-151393000	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr1:151373400-151403400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr1:151373400-151403400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:151373400-151403400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:151373400-151403400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:151373400-151403400	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:151373400-151403400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:151373400-151403600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:151373400-151403600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:151373400-151403800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:151373400-151416400	Weak transcription	Stomach Mucosa	stomach
14	chr1:151373600-151385800	Strong transcription	Fetal Lung	lung
15	chr1:151373600-151403200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:151373600-151403400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:151373600-151403400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:151373600-151403400	Strong transcription	Thymus	Thymus
19	chr1:151373600-151403800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:151373600-151403800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:151373800-151386200	Strong transcription	Lung	lung
22	chr1:151373800-151389600	Strong transcription	Colon Smooth Muscle	Colon
23	chr1:151373800-151401000	Strong transcription	Brain Germinal Matrix	brain
24	chr1:151373800-151403200	Strong transcription	Primary T cells from cord blood	blood
25	chr1:151373800-151403200	Strong transcription	Adipose Nuclei	Adipose
26	chr1:151373800-151403200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:151373800-151403400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:151373800-151403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:151373800-151403400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:151373800-151403600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:151373800-151403800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:151373800-151407000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:151374000-151386000	Strong transcription	HUVEC	blood vessel
34	chr1:151374000-151387800	Strong transcription	Hela-S3	cervix
35	chr1:151374000-151387800	Strong transcription	HSMMtube	muscle
36	chr1:151374000-151388800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:151374000-151391200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:151374000-151397400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:151374000-151403200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:151374000-151403200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:151374000-151403200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:151374000-151403200	Strong transcription	Placenta	Placenta
43	chr1:151374000-151403400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:151374000-151403400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:151374000-151405400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:151374000-151406800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:151374200-151385800	Strong transcription	NHLF	lung
48	chr1:151374200-151388400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:151374200-151389000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:151374200-151395600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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