Variant report

Variant	rs2363017
Chromosome Location	chr1:155621354-155621355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155619254..155623405-chr1:155624023..155627558,4	K562	blood:
2	chr1:155619254..155623405-chr1:155624294..155627558,5	K562	blood:
3	chr1:155609013..155610519-chr1:155620410..155621940,2	MCF-7	breast:
4	chr1:155619948..155622617-chr1:155654194..155656266,2	MCF-7	breast:
5	chr1:155619365..155621539-chr1:155630413..155632008,2	K562	blood:
6	chr1:155617094..155622195-chr1:155655063..155661292,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132676	Chromatin interaction
ENSG00000163374	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs11264417	0.88[YRI][hapmap]
rs1625821	1.00[AMR][1000 genomes]
rs1627630	1.00[AMR][1000 genomes]
rs168343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171168	0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749412	1.00[AMR][1000 genomes]
rs1749413	1.00[AMR][1000 genomes]
rs1749414	1.00[AMR][1000 genomes]
rs1749420	1.00[AMR][1000 genomes]
rs1749422	1.00[AMR][1000 genomes]
rs1756242	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1886618	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs2136920	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2485472	1.00[AMR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2885676	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2988999	0.89[AMR][1000 genomes]
rs348184	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348188	0.89[AMR][1000 genomes]
rs348189	0.89[AMR][1000 genomes]
rs348191	1.00[AMR][1000 genomes]
rs348193	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs348197	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348199	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs348208	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348209	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	1.00[AMR][1000 genomes]
rs492669	0.89[AMR][1000 genomes]
rs4971055	0.96[AFR][1000 genomes]
rs4971058	0.89[AMR][1000 genomes]
rs512551	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540380	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs568672	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.89[AMR][1000 genomes]
rs617232	0.85[YRI][hapmap];0.89[AMR][1000 genomes]
rs6427283	0.96[AFR][1000 genomes]
rs6688399	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	1.00[AMR][1000 genomes]
rs708609	1.00[AMR][1000 genomes]
rs708613	0.86[YRI][hapmap];0.89[AMR][1000 genomes]
rs8179457	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822013	1.00[AMR][1000 genomes]
rs822014	1.00[AMR][1000 genomes]
rs822017	1.00[AMR][1000 genomes]
rs822021	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs822023	1.00[AMR][1000 genomes]
rs822024	1.00[AMR][1000 genomes]
rs822027	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs822479	1.00[AMR][1000 genomes]
rs822481	1.00[AMR][1000 genomes]
rs822483	1.00[AMR][1000 genomes]
rs822485	1.00[AMR][1000 genomes]
rs822492	1.00[AMR][1000 genomes]
rs822496	0.88[YRI][hapmap];0.89[AMR][1000 genomes]
rs822498	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs822522	1.00[AMR][1000 genomes]
rs866603	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427227	1.00[AMR][1000 genomes]
rs9427229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic 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 lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases
12	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic 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 lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155615200-155621600	Weak transcription	Aorta	Aorta
2	chr1:155615400-155628600	Weak transcription	Right Ventricle	heart
3	chr1:155615600-155628400	Weak transcription	Left Ventricle	heart
4	chr1:155615600-155628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:155616000-155628200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:155616400-155628800	Weak transcription	Small Intestine	intestine
7	chr1:155617000-155628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:155617400-155622000	Enhancers	Placenta	Placenta
9	chr1:155617800-155637000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:155618600-155628000	Weak transcription	Fetal Thymus	thymus
11	chr1:155618800-155621400	Weak transcription	Brain Anterior Caudate	brain
12	chr1:155618800-155621600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:155618800-155627000	Weak transcription	Fetal Stomach	stomach
14	chr1:155618800-155628000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:155618800-155628000	Weak transcription	Brain Germinal Matrix	brain
16	chr1:155618800-155628400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:155618800-155628400	Weak transcription	Fetal Lung	lung
18	chr1:155618800-155628800	Weak transcription	Colonic Mucosa	Colon
19	chr1:155618800-155631800	Weak transcription	K562	blood
20	chr1:155619000-155621400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:155619000-155624800	Weak transcription	Brain Angular Gyrus	brain
22	chr1:155619000-155627600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:155619000-155628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:155619000-155628000	Weak transcription	Liver	Liver
25	chr1:155619600-155621600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:155620000-155621600	Enhancers	Adipose Nuclei	Adipose
27	chr1:155620000-155621600	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:155620200-155622200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:155620400-155621800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:155620400-155627800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:155620600-155621400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:155620600-155621600	Enhancers	Brain Cingulate Gyrus	brain
33	chr1:155620600-155621600	Active TSS	Stomach Smooth Muscle	stomach
34	chr1:155620600-155622000	Enhancers	NH-A	brain
35	chr1:155620600-155622400	Enhancers	Stomach Mucosa	stomach
36	chr1:155620600-155624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:155620600-155628200	Weak transcription	Ovary	ovary
38	chr1:155620800-155621400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:155620800-155621400	Enhancers	Duodenum Mucosa	Duodenum
40	chr1:155620800-155622400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:155620800-155628200	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:155620800-155628400	Weak transcription	Psoas Muscle	Psoas
43	chr1:155621000-155621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:155621000-155621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:155621000-155621400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:155621000-155621400	Active TSS	A549	lung
47	chr1:155621000-155621400	Active TSS	Hela-S3	cervix
48	chr1:155621000-155621800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:155621000-155628200	Weak transcription	Fetal Brain Male	brain
50	chr1:155621000-155628200	Weak transcription	Lung	lung

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