Variant report

Variant	rs41313914
Chromosome Location	chr1:186388005-186388006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186386796..186388944-chr1:186399604..186401949,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10489398	1.00[AMR][1000 genomes]
rs16825608	1.00[AMR][1000 genomes]
rs16825635	1.00[AMR][1000 genomes]
rs55862715	1.00[AMR][1000 genomes]
rs74136827	1.00[AMR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
6	nsv872589	chr1:186354146-186390303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
2	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
3	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
4	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:186348600-186390200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:186361600-186388400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:186362400-186405600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:186362800-186405600	Weak transcription	Right Ventricle	heart
9	chr1:186365400-186390200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:186365600-186395200	Weak transcription	Psoas Muscle	Psoas
11	chr1:186366200-186393800	Weak transcription	Lung	lung
12	chr1:186367600-186390000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:186368600-186398200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:186370400-186388200	Weak transcription	HSMMtube	muscle
15	chr1:186372000-186389400	Weak transcription	Gastric	stomach
16	chr1:186372000-186391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:186372000-186392000	Weak transcription	Esophagus	oesophagus
18	chr1:186372000-186398200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:186372000-186406000	Weak transcription	Pancreas	Pancrea
20	chr1:186374800-186390800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:186375600-186389800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:186376200-186388200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:186376800-186391800	Weak transcription	HepG2	liver
24	chr1:186376800-186399600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:186379000-186388200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:186379200-186390000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:186379200-186395200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:186379400-186391200	Weak transcription	Fetal Kidney	kidney
29	chr1:186379800-186389400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:186380000-186398800	Weak transcription	Brain Germinal Matrix	brain
31	chr1:186380200-186388200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:186380200-186389400	Weak transcription	Fetal Stomach	stomach
33	chr1:186380200-186390200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:186380400-186389200	Weak transcription	Fetal Lung	lung
35	chr1:186381400-186388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:186381400-186390600	Weak transcription	NHLF	lung
37	chr1:186381600-186391800	Weak transcription	Placenta	Placenta
38	chr1:186383000-186391200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:186386200-186389600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:186386200-186389600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:186386200-186389800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:186386200-186390200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:186386200-186390400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:186386400-186389400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:186386400-186389400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:186386400-186389600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:186386400-186389800	Strong transcription	Hela-S3	cervix
48	chr1:186386400-186389800	Strong transcription	Osteobl	bone
49	chr1:186386400-186390200	Strong transcription	NH-A	brain
50	chr1:186386400-186390800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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