Variant report

Variant	rs62114969
Chromosome Location	chr2:11953105-11953106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:11952218-11953250	K562	blood:	n/a	n/a
2	MYC	chr2:11953052-11953273	H1-hESC	embryonic stem cell:	n/a	chr2:11953073-11953082

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11947589..11950317-chr2:11952240..11954586,2	MCF-7	breast:

Variant related genes	Relation type
LPIN1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11676175	1.00[AFR][1000 genomes]
rs11677240	1.00[AFR][1000 genomes]
rs11693935	1.00[AFR][1000 genomes]
rs62113260	1.00[AFR][1000 genomes]
rs62116185	1.00[AFR][1000 genomes]
rs62116208	1.00[AFR][1000 genomes]
rs62116209	1.00[AFR][1000 genomes]
rs62116212	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
5	nsv961382	chr2:11952288-11955247	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11919800-11957600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:11919800-11957800	Strong transcription	Primary T cells from cord blood	blood
6	chr2:11919800-11959200	Strong transcription	Liver	Liver
7	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
8	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:11925200-11968600	Strong transcription	NHLF	lung
14	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:11929800-11955200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:11932400-11959600	Weak transcription	Fetal Kidney	kidney
17	chr2:11936800-11957600	Strong transcription	Adipose Nuclei	Adipose
18	chr2:11936800-11958000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:11937600-11957600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:11941200-11956200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:11942000-11958200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:11942400-11953400	Strong transcription	Fetal Brain Female	brain
25	chr2:11942600-11957600	Strong transcription	Fetal Stomach	stomach
26	chr2:11942800-11960400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11943000-11962800	Strong transcription	NHEK	skin
28	chr2:11944000-11953600	Strong transcription	Brain Anterior Caudate	brain
29	chr2:11944800-11965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:11946000-11955200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:11946400-11954800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:11946400-11955200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:11946600-11955200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:11946600-11955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:11946600-11955400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:11946600-11961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:11946800-11955400	Weak transcription	Small Intestine	intestine
39	chr2:11947000-11955400	Weak transcription	Fetal Brain Male	brain
40	chr2:11947200-11955000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:11947400-11955400	Weak transcription	NH-A	brain
42	chr2:11947600-11955200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:11947800-11954400	Weak transcription	Hela-S3	cervix
44	chr2:11948000-11953200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:11948000-11961800	Weak transcription	GM12878-XiMat	blood
46	chr2:11948200-11955200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:11948200-11955600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:11948400-11954800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:11948400-11955200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:11948400-11955400	Weak transcription	Osteobl	bone

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