Variant report

Variant	rs7962761
Chromosome Location	chr12:30864457-30864458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30847696..30850462-chr12:30863631..30865678,2	K562	blood:
2	chr12:30856618..30858615-chr12:30863919..30865473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133704	Chromatin interaction

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

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

rs_ID	r²[population]
rs16906667	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16906676	0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16906678	1.00[AMR][1000 genomes]
rs16906714	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3850962	1.00[AMR][1000 genomes]
rs3850963	1.00[AMR][1000 genomes]
rs59463115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59551332	1.00[AMR][1000 genomes]
rs60389639	1.00[AMR][1000 genomes]
rs60547392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61297171	1.00[AMR][1000 genomes]
rs7137533	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962737	1.00[AMR][1000 genomes]
rs7968828	1.00[AMR][1000 genomes]
rs7971480	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974821	1.00[AMR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
3	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
4	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
5	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:30853800-30867000	Weak transcription	Esophagus	oesophagus
7	chr12:30854600-30867000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:30857400-30881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:30858000-30865800	Weak transcription	Hela-S3	cervix
10	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
11	chr12:30858800-30865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:30858800-30866600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:30858800-30868600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:30859000-30869400	Weak transcription	K562	blood
15	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:30859400-30883400	Weak transcription	Colonic Mucosa	Colon
17	chr12:30859800-30877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:30860000-30865600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:30860000-30865800	Weak transcription	Fetal Kidney	kidney
20	chr12:30860200-30866200	Weak transcription	Fetal Intestine Large	intestine
21	chr12:30860200-30871200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:30860400-30865600	Weak transcription	Fetal Intestine Small	intestine
23	chr12:30860400-30881600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:30860800-30866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:30861000-30879000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:30861200-30871400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:30861200-30875000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:30861400-30866400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:30861400-30869800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:30861400-30872600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:30861400-30881600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:30861400-30885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
35	chr12:30861800-30865200	Strong transcription	NHEK	skin
36	chr12:30861800-30866800	Strong transcription	Brain Angular Gyrus	brain
37	chr12:30861800-30869800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:30861800-30870000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:30861800-30872000	Strong transcription	HSMM	muscle
40	chr12:30861800-30872600	Strong transcription	Fetal Brain Female	brain
41	chr12:30861800-30872800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr12:30861800-30877800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:30861800-30879000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:30861800-30884600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:30862000-30864800	Strong transcription	Primary B cells from cord blood	blood
48	chr12:30862000-30864800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:30862000-30864800	Strong transcription	Osteobl	bone
50	chr12:30862000-30869600	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links