Variant report

Variant	rs13243111
Chromosome Location	chr7:116608501-116608502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116601473..116604004-chr7:116608166..116610648,2	K562	blood:
2	chr7:116607594..116610667-chr7:116617183..116619569,3	MCF-7	breast:
3	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA2-2	chr7:116608453-116608628	NONHSAT122916
2	lnc-CAPZA2-2	chr7:116608453-116608628	NONHSAT122918

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000227199	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11762032	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11764134	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706124	0.82[EUR][1000 genomes]
rs12706125	0.83[EUR][1000 genomes]
rs12706126	0.86[EUR][1000 genomes]
rs12706127	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706134	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706135	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706136	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12706137	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706138	0.87[AMR][1000 genomes]
rs12706139	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13235739	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13239447	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34042687	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66758829	0.86[EUR][1000 genomes]
rs71544773	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595000-116608600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:116595400-116608600	Weak transcription	HSMM	muscle
4	chr7:116595600-116617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:116596400-116616600	Weak transcription	Osteobl	bone
6	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:116596600-116612000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:116596800-116609600	Weak transcription	Right Atrium	heart
10	chr7:116596800-116609600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:116597000-116641600	Weak transcription	Ovary	ovary
13	chr7:116597200-116610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:116597800-116610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:116598400-116610400	Weak transcription	HepG2	liver
16	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:116598800-116609800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:116598800-116609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:116598800-116610400	Weak transcription	Left Ventricle	heart
20	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
21	chr7:116599200-116611800	Weak transcription	Right Ventricle	heart
22	chr7:116599600-116609600	Weak transcription	K562	blood
23	chr7:116600600-116613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:116600600-116620200	Weak transcription	Lung	lung
25	chr7:116603400-116617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:116603600-116610600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:116604600-116609400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:116604600-116609600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:116604800-116610200	Weak transcription	Liver	Liver
30	chr7:116606600-116611000	Enhancers	Fetal Heart	heart
31	chr7:116607000-116608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:116607000-116609400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:116607400-116610400	Weak transcription	NHDF-Ad	bronchial
34	chr7:116607600-116609400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:116607600-116609400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:116607600-116609400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:116607600-116609600	Weak transcription	Pancreas	Pancrea
38	chr7:116607600-116610200	Weak transcription	Psoas Muscle	Psoas
39	chr7:116607600-116610200	Weak transcription	Hela-S3	cervix
40	chr7:116607600-116610600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:116607600-116611800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:116607600-116614000	Weak transcription	Brain Anterior Caudate	brain
43	chr7:116607600-116618000	Weak transcription	Spleen	Spleen
44	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:116607600-116632400	Weak transcription	Gastric	stomach
46	chr7:116607800-116612600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:116608000-116612800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:116608200-116609400	Weak transcription	GM12878-XiMat	blood
49	chr7:116608400-116608800	Enhancers	HSMMtube	muscle

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