Variant report

Variant	rs72703784
Chromosome Location	chr1:168453152-168453153
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28444116	0.85[ASN][1000 genomes]
rs72703783	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168444200-168461000	Weak transcription	Liver	Liver
2	chr1:168447200-168453400	Weak transcription	Fetal Thymus	thymus
3	chr1:168447200-168453600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:168449600-168453600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:168450000-168453200	Enhancers	HepG2	liver
6	chr1:168450000-168453800	Enhancers	NHDF-Ad	bronchial
7	chr1:168450000-168454000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:168450000-168455200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:168450200-168454200	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:168450400-168454000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:168450400-168455000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:168450600-168453400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:168450800-168453400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:168451000-168453400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:168451200-168455000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:168451200-168455400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:168451400-168454400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:168451400-168455000	Enhancers	HMEC	breast
19	chr1:168451600-168453400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:168451600-168453400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:168451600-168453400	Weak transcription	Fetal Intestine Large	intestine
22	chr1:168451600-168453600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:168451600-168453600	Enhancers	Hela-S3	cervix
24	chr1:168451600-168455800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:168451600-168456400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:168451800-168453400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:168451800-168454200	Weak transcription	Stomach Mucosa	stomach
28	chr1:168451800-168454400	Weak transcription	Pancreas	Pancrea
29	chr1:168451800-168454600	Enhancers	Osteobl	bone
30	chr1:168452000-168454000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:168452000-168454400	Enhancers	HSMMtube	muscle
32	chr1:168452000-168455400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:168452200-168453600	Enhancers	NH-A	brain
34	chr1:168452200-168453800	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:168452200-168453800	Enhancers	HSMM	muscle
36	chr1:168452200-168455000	Enhancers	NHEK	skin
37	chr1:168452200-168455600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:168452400-168453400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:168452400-168453400	Weak transcription	Placenta	Placenta
40	chr1:168452400-168453400	Weak transcription	NHLF	lung
41	chr1:168452400-168453800	Enhancers	Fetal Stomach	stomach
42	chr1:168452400-168454000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:168452400-168454400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:168452400-168454400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:168452400-168455000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:168452600-168453400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:168452600-168453800	Enhancers	Fetal Heart	heart
48	chr1:168452600-168454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:168452600-168456800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:168452600-168457800	Enhancers	Primary T helper cells fromperipheralblood	blood

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