Variant report

Variant	rs72883652
Chromosome Location	chr1:46065475-46065476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45810314..45813113-chr1:46064660..46067353,2	K562	blood:
2	chr1:45984660..45987817-chr1:46062052..46065746,3	K562	blood:
3	chr1:46064211..46065793-chr1:46066474..46069082,2	K562	blood:

Variant related genes	Relation type
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs36111746	0.87[AFR][1000 genomes]
rs59130672	1.00[AFR][1000 genomes]
rs59264386	1.00[AFR][1000 genomes]
rs59474035	1.00[AFR][1000 genomes]
rs60360728	1.00[AFR][1000 genomes]
rs72883656	1.00[AFR][1000 genomes]
rs72883658	1.00[AFR][1000 genomes]
rs72883665	1.00[AFR][1000 genomes]
rs72883687	1.00[AFR][1000 genomes]
rs72883698	1.00[AFR][1000 genomes]
rs72885382	1.00[AFR][1000 genomes]
rs72892507	0.87[AFR][1000 genomes]
rs72892508	0.87[AFR][1000 genomes]
rs72892530	1.00[AFR][1000 genomes]
rs72894312	1.00[AFR][1000 genomes]
rs72894361	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
3	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
4	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	esv3342998	chr1:46035908-46066462	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46051400-46069800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:46052000-46081000	Weak transcription	Small Intestine	intestine
3	chr1:46052200-46084200	Weak transcription	Right Atrium	heart
4	chr1:46052400-46080600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:46052800-46066600	Weak transcription	NHDF-Ad	bronchial
6	chr1:46052800-46066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:46052800-46067800	Weak transcription	NHLF	lung
8	chr1:46052800-46078400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:46053400-46066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:46053800-46071800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:46055000-46067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:46055200-46090400	Strong transcription	Dnd41	blood
20	chr1:46055600-46065800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr1:46055800-46071600	Weak transcription	Left Ventricle	heart
22	chr1:46056000-46079000	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:46056200-46071800	Weak transcription	Fetal Brain Male	brain
24	chr1:46056600-46066000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:46056800-46065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:46056800-46073400	Weak transcription	Right Ventricle	heart
27	chr1:46056800-46074000	Weak transcription	Brain Substantia Nigra	brain
28	chr1:46057000-46072600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:46057400-46073000	Weak transcription	Gastric	stomach
30	chr1:46057400-46081600	Weak transcription	Psoas Muscle	Psoas
31	chr1:46057800-46072200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:46060600-46068600	Weak transcription	Fetal Lung	lung
33	chr1:46060600-46069600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:46060800-46068200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:46060800-46069600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:46060800-46069800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:46060800-46076200	Weak transcription	Esophagus	oesophagus
38	chr1:46061000-46067800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:46061000-46068200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:46061000-46068200	Weak transcription	Thymus	Thymus
41	chr1:46061000-46072600	Weak transcription	Ovary	ovary
42	chr1:46061000-46072800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:46061000-46073000	Weak transcription	Aorta	Aorta
44	chr1:46061000-46073200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:46061000-46073200	Weak transcription	Pancreas	Pancrea
46	chr1:46061000-46073200	Weak transcription	Spleen	Spleen
47	chr1:46061000-46076200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:46061000-46078800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:46061200-46068200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:46061200-46070400	Weak transcription	NHEK	skin

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