Variant report

Variant	rs12088369
Chromosome Location	chr1:150905447-150905448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150903857..150905968-chr1:151042810..151044624,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143458	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11799727	1.00[AMR][1000 genomes]
rs11809393	1.00[AMR][1000 genomes]
rs12065659	1.00[AMR][1000 genomes]
rs12075189	1.00[AMR][1000 genomes]
rs12089548	1.00[AMR][1000 genomes]
rs12092817	1.00[AMR][1000 genomes]
rs12093938	1.00[AMR][1000 genomes]
rs16839661	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150899400-150915000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150899600-150913200	Weak transcription	Aorta	Aorta
3	chr1:150899600-150913200	Weak transcription	Right Ventricle	heart
4	chr1:150899600-150913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:150899600-150943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:150900000-150905600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:150900000-150905600	Strong transcription	Osteobl	bone
8	chr1:150900000-150905800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:150900000-150906200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:150900000-150913400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:150900000-150915200	Weak transcription	Esophagus	oesophagus
12	chr1:150900200-150905600	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr1:150900200-150905800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:150900200-150905800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr1:150900200-150906000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:150900200-150906000	Strong transcription	Fetal Kidney	kidney
17	chr1:150900200-150906000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:150900200-150906200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:150900200-150906200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:150900200-150906600	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr1:150900200-150908400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:150900200-150909000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:150900200-150941800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:150900400-150906000	Strong transcription	Brain Hippocampus Middle	brain
25	chr1:150900400-150906000	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:150900400-150906200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:150900400-150928400	Strong transcription	Liver	Liver
28	chr1:150900400-150941000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:150900400-150942600	Weak transcription	Stomach Mucosa	stomach
30	chr1:150900400-150944200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:150900600-150905800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:150900600-150906200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:150901000-150941600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:150901600-150941600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:150902000-150905600	Strong transcription	NH-A	brain
36	chr1:150902000-150906000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:150902000-150906000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr1:150902000-150906200	Strong transcription	HUVEC	blood vessel
39	chr1:150902200-150905800	ZNF genes & repeats	GM12878-XiMat	blood
40	chr1:150902400-150906200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:150902400-150917600	Strong transcription	HSMM	muscle
42	chr1:150902800-150905800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:150903400-150915000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:150903400-150917000	Weak transcription	Fetal Heart	heart
45	chr1:150903600-150906200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:150903600-150907200	Weak transcription	HepG2	liver
47	chr1:150903600-150908200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:150903600-150909800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:150903600-150910600	Weak transcription	Colonic Mucosa	Colon
50	chr1:150903600-150911200	Weak transcription	Small Intestine	intestine

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