Variant report

Variant	rs7189945
Chromosome Location	chr16:12383891-12383892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12359512..12361860-chr16:12382352..12385228,2	MCF-7	breast:
2	chr16:12289297..12291901-chr16:12382629..12384781,2	MCF-7	breast:
3	chr16:12352461..12354731-chr16:12381586..12384125,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11075057	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075058	0.92[EUR][1000 genomes]
rs11075059	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11075061	0.80[EUR][1000 genomes]
rs11639640	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11644788	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11649626	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11861914	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12148953	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12445263	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445569	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12446650	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12448443	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13335852	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs176717	0.84[EUR][1000 genomes]
rs17697005	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17764604	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089251	0.82[EUR][1000 genomes]
rs209846	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209849	0.85[EUR][1000 genomes]
rs209850	0.85[EUR][1000 genomes]
rs209851	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209853	0.86[EUR][1000 genomes]
rs209855	0.84[EUR][1000 genomes]
rs209856	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2856771	0.84[EUR][1000 genomes]
rs289673	0.83[EUR][1000 genomes]
rs2904423	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35818743	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4305040	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs476267	0.80[EUR][1000 genomes]
rs4780417	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4780418	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4780419	0.85[EUR][1000 genomes]
rs4780422	0.83[EUR][1000 genomes]
rs4781200	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4781201	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4781202	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4781209	0.81[EUR][1000 genomes]
rs544598	0.81[EUR][1000 genomes]
rs62039994	0.81[EUR][1000 genomes]
rs6498274	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6498278	0.81[EUR][1000 genomes]
rs6498279	0.81[EUR][1000 genomes]
rs7189386	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7190509	0.81[EUR][1000 genomes]
rs7191442	0.92[EUR][1000 genomes]
rs7192102	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7194718	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7194981	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195520	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7197417	0.92[EUR][1000 genomes]
rs7199556	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7200289	0.87[EUR][1000 genomes]
rs7204209	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7204333	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7500910	0.85[EUR][1000 genomes]
rs8046012	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051758	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8058876	0.81[EUR][1000 genomes]
rs8061549	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8063991	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs868773	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs869289	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs905950	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9630612	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9921728	0.84[EUR][1000 genomes]
rs9927705	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9928214	0.83[EUR][1000 genomes]
rs9930625	0.83[EUR][1000 genomes]
rs9937220	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
3	chr16:12347800-12395200	Weak transcription	Right Ventricle	heart
4	chr16:12356000-12390200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:12365200-12388000	Weak transcription	Pancreas	Pancrea
7	chr16:12365200-12388400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:12366400-12384000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
10	chr16:12372800-12393800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:12373000-12384200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:12373400-12414200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:12373600-12396600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr16:12374000-12389400	Weak transcription	HSMMtube	muscle
15	chr16:12374000-12397400	Weak transcription	Ovary	ovary
16	chr16:12374200-12384600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:12374200-12417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr16:12375600-12384000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:12375600-12386400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr16:12378200-12384200	Weak transcription	Adipose Nuclei	Adipose
21	chr16:12378600-12388400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:12379200-12385200	Weak transcription	Fetal Brain Male	brain
23	chr16:12379200-12388400	Weak transcription	Right Atrium	heart
24	chr16:12380600-12384800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:12381000-12385000	Strong transcription	Primary B cells from cord blood	blood
26	chr16:12381400-12384600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr16:12381800-12384200	Enhancers	Spleen	Spleen
28	chr16:12382000-12384400	Enhancers	Duodenum Mucosa	Duodenum
29	chr16:12382000-12386200	Strong transcription	Primary T cells from cord blood	blood
30	chr16:12382600-12384200	Enhancers	Placenta	Placenta
31	chr16:12382600-12384400	Flanking Active TSS	HepG2	liver
32	chr16:12382800-12384200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:12382800-12384200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:12382800-12384400	Enhancers	Fetal Intestine Small	intestine
35	chr16:12382800-12384400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr16:12383000-12384000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr16:12383000-12384000	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr16:12383000-12384000	Enhancers	Esophagus	oesophagus
39	chr16:12383000-12384000	Enhancers	Lung	lung
40	chr16:12383000-12384200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr16:12383000-12384200	Enhancers	Fetal Intestine Large	intestine
42	chr16:12383000-12384200	Enhancers	Fetal Stomach	stomach
43	chr16:12383000-12384200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr16:12383000-12384200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr16:12383000-12384200	Enhancers	Stomach Mucosa	stomach
46	chr16:12383200-12384200	Enhancers	HUVEC	blood vessel
47	chr16:12383200-12385000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:12383200-12388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:12383200-12407800	Weak transcription	Gastric	stomach
50	chr16:12383400-12384000	Enhancers	Fetal Muscle Trunk	muscle

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