Variant report

Variant	rs72477383
Chromosome Location	chr1:152081692-152081693
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:152008020..152010755-chr1:152080954..152084659,4	MCF-7	breast:
2	chr1:152007161..152009536-chr1:152080414..152082026,2	MCF-7	breast:
3	chr1:152054917..152058416-chr1:152081485..152084438,3	MCF-7	breast:
4	chr1:152019653..152021946-chr1:152081458..152082982,2	MCF-7	breast:
5	chr1:152023393..152025689-chr1:152081392..152083739,7	MCF-7	breast:
6	chr1:152039144..152040996-chr1:152081393..152082940,2	MCF-7	breast:
7	chr1:152018511..152020691-chr1:152081107..152083275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16833807	0.83[ASN][1000 genomes]
rs16833809	0.81[ASN][1000 genomes]
rs16833811	0.91[ASN][1000 genomes]
rs16833817	0.91[ASN][1000 genomes]
rs2338311	1.00[ASN][1000 genomes]
rs72477384	1.00[ASN][1000 genomes]
rs72477385	1.00[ASN][1000 genomes]
rs72477387	0.81[ASN][1000 genomes]
rs72993686	0.83[ASN][1000 genomes]
rs72993689	0.91[ASN][1000 genomes]
rs72993691	0.81[ASN][1000 genomes]
rs7416722	1.00[ASN][1000 genomes]
rs7540075	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv438037	chr1:152079989-152084039	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152079800-152081800	ZNF genes & repeats	Aorta	Aorta
2	chr1:152079800-152082000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
3	chr1:152079800-152082200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:152079800-152082800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152079800-152083000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:152079800-152083200	ZNF genes & repeats	Lung	lung
7	chr1:152079800-152084400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr1:152080000-152081800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:152080000-152081800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr1:152080000-152081800	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr1:152080000-152082400	Flanking Bivalent TSS/Enh	HMEC	breast
14	chr1:152080000-152082600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr1:152080000-152082600	Bivalent/Poised TSS	NHLF	lung
16	chr1:152080000-152083800	ZNF genes & repeats	HSMM	muscle
17	chr1:152080000-152085000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr1:152080000-152085600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:152080200-152081800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr1:152080200-152082000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr1:152080200-152082000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr1:152080200-152082200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
23	chr1:152080200-152082200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr1:152080400-152081800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:152080400-152082800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr1:152080600-152082000	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr1:152080800-152082000	Weak transcription	Gastric	stomach
28	chr1:152080800-152082800	Bivalent Enhancer	Liver	Liver
29	chr1:152080800-152084400	Flanking Bivalent TSS/Enh	Placenta	Placenta
30	chr1:152081000-152081800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr1:152081000-152081800	Bivalent/Poised TSS	Thymus	Thymus
32	chr1:152081000-152082800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr1:152081000-152083200	Bivalent Enhancer	Spleen	Spleen
34	chr1:152081000-152083200	Flanking Bivalent TSS/Enh	A549	lung
35	chr1:152081200-152081800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
36	chr1:152081200-152081800	Bivalent/Poised TSS	NHEK	skin
37	chr1:152081200-152082000	Bivalent Enhancer	HUVEC	blood vessel
38	chr1:152081400-152081800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
39	chr1:152081400-152081800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr1:152081400-152081800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:152081400-152081800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:152081400-152081800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr1:152081400-152081800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
44	chr1:152081400-152082000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:152081400-152082200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr1:152081400-152082400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:152081400-152082400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
48	chr1:152081400-152082600	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr1:152081400-152082800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr1:152081400-152083000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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