Variant report

Variant	rs73179398
Chromosome Location	chr2:11841461-11841462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11890286	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584687	0.89[ASN][1000 genomes]
rs4233903	0.83[EUR][1000 genomes]
rs55676775	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56858654	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57456819	1.00[ASN][1000 genomes]
rs58273936	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454451	0.90[ASN][1000 genomes]
rs59502453	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59838011	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61410870	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61430487	1.00[ASN][1000 genomes]
rs6432234	1.00[ASN][1000 genomes]
rs67334974	0.89[ASN][1000 genomes]
rs6757729	0.83[EUR][1000 genomes]
rs73177496	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179361	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179363	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179396	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181372	1.00[EUR][1000 genomes]
rs73181378	0.91[EUR][1000 genomes]
rs7556803	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580386	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580501	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581186	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581192	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583977	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583991	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594198	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594406	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597552	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597790	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598255	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598525	1.00[ASN][1000 genomes]
rs7601181	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606137	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606378	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606724	0.81[EUR][1000 genomes];1.00[ASN][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	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:11829400-11841800	Weak transcription	Primary B cells from cord blood	blood
2	chr2:11833600-11841800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:11836800-11843200	Enhancers	Placenta	Placenta
4	chr2:11837800-11843200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:11837800-11845400	Weak transcription	Pancreas	Pancrea
6	chr2:11837800-11848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:11838000-11842400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:11838000-11842400	Weak transcription	Spleen	Spleen
9	chr2:11838000-11843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:11838000-11843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:11838200-11842000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:11838200-11843400	Weak transcription	HMEC	breast
13	chr2:11838400-11841600	Enhancers	Ovary	ovary
14	chr2:11838400-11844000	Weak transcription	Lung	lung
15	chr2:11838400-11845000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:11838600-11843400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:11838600-11848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:11838800-11841600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:11838800-11843400	Weak transcription	NH-A	brain
20	chr2:11839000-11841800	Weak transcription	Osteobl	bone
21	chr2:11839000-11842200	Weak transcription	K562	blood
22	chr2:11839000-11843200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:11839000-11843400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:11839000-11843400	Weak transcription	NHLF	lung
25	chr2:11839000-11843600	Weak transcription	NHEK	skin
26	chr2:11839200-11842000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:11839200-11842000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:11839200-11842400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:11839200-11843200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:11839200-11843600	Weak transcription	HSMMtube	muscle
31	chr2:11839400-11843200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:11839400-11843400	Weak transcription	HSMM	muscle
33	chr2:11839400-11843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:11840200-11842200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:11840200-11844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:11840600-11842000	Enhancers	Fetal Muscle Leg	muscle
37	chr2:11840800-11841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:11840800-11842600	Enhancers	Esophagus	oesophagus
39	chr2:11841000-11843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:11841200-11841800	Enhancers	Brain Angular Gyrus	brain
41	chr2:11841200-11842200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:11841200-11842600	Weak transcription	Psoas Muscle	Psoas
43	chr2:11841200-11842800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:11841200-11842800	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:11841200-11842800	Enhancers	Dnd41	blood
46	chr2:11841400-11841600	Enhancers	Brain Substantia Nigra	brain
47	chr2:11841400-11842600	Enhancers	Fetal Thymus	thymus
48	chr2:11841400-11842800	Enhancers	Primary B cells from peripheral blood	blood
49	chr2:11841400-11842800	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links