Variant report

Variant	rs10136978
Chromosome Location	chr14:35788948-35788949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35786509..35789581-chr14:35793946..35797059,3	K562	blood:
2	chr14:35761955..35763950-chr14:35787734..35790332,2	K562	blood:
3	chr14:35787677..35790283-chr14:35804787..35806837,2	MCF-7	breast:
4	chr14:35787443..35789912-chr14:35792627..35795777,3	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10047949	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131625	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132920	1.00[ASN][1000 genomes]
rs10134308	1.00[ASN][1000 genomes]
rs10137019	1.00[ASN][1000 genomes]
rs10142846	1.00[ASN][1000 genomes]
rs10144857	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146133	0.85[ASN][1000 genomes]
rs10146691	0.96[ASN][1000 genomes]
rs10147645	0.96[ASN][1000 genomes]
rs10149823	0.93[ASN][1000 genomes]
rs1064248	1.00[ASN][1000 genomes]
rs11156874	0.85[ASN][1000 genomes]
rs11844031	0.96[ASN][1000 genomes]
rs11845183	0.96[ASN][1000 genomes]
rs11845364	1.00[ASN][1000 genomes]
rs11848309	0.85[ASN][1000 genomes]
rs11849461	0.96[ASN][1000 genomes]
rs11851820	0.96[ASN][1000 genomes]
rs11852178	0.96[ASN][1000 genomes]
rs12100582	1.00[ASN][1000 genomes]
rs12100980	1.00[ASN][1000 genomes]
rs12436351	0.96[ASN][1000 genomes]
rs17091807	0.85[ASN][1000 genomes]
rs17103111	0.93[ASN][1000 genomes]
rs17103147	1.00[ASN][1000 genomes]
rs17103166	0.96[ASN][1000 genomes]
rs17386684	0.85[ASN][1000 genomes]
rs17456067	0.85[ASN][1000 genomes]
rs1807162	0.85[ASN][1000 genomes]
rs1884715	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145622	0.96[ASN][1000 genomes]
rs2277459	1.00[ASN][1000 genomes]
rs2277461	1.00[ASN][1000 genomes]
rs2415278	1.00[ASN][1000 genomes]
rs2415284	1.00[ASN][1000 genomes]
rs28470932	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504476	0.96[ASN][1000 genomes]
rs28505171	0.93[ASN][1000 genomes]
rs28595436	1.00[ASN][1000 genomes]
rs28665705	1.00[ASN][1000 genomes]
rs28708376	1.00[ASN][1000 genomes]
rs28736779	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899832	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509212	0.85[ASN][1000 genomes]
rs4494460	0.85[ASN][1000 genomes]
rs55907319	1.00[ASN][1000 genomes]
rs58064181	0.96[ASN][1000 genomes]
rs60940685	0.96[ASN][1000 genomes]
rs62625039	0.85[ASN][1000 genomes]
rs6571694	0.85[ASN][1000 genomes]
rs6571695	0.85[ASN][1000 genomes]
rs6571709	1.00[ASN][1000 genomes]
rs7148424	1.00[ASN][1000 genomes]
rs7149602	1.00[ASN][1000 genomes]
rs7153807	1.00[ASN][1000 genomes]
rs7154637	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155335	0.93[ASN][1000 genomes]
rs7218	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664840	0.85[ASN][1000 genomes]
rs72664843	0.85[ASN][1000 genomes]
rs72664854	0.85[ASN][1000 genomes]
rs72664855	0.85[ASN][1000 genomes]
rs73239026	0.96[ASN][1000 genomes]
rs73239030	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73239072	1.00[ASN][1000 genomes]
rs73239074	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240720	0.96[ASN][1000 genomes]
rs73240721	0.96[ASN][1000 genomes]
rs74043875	0.96[ASN][1000 genomes]
rs743226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743227	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7493705	1.00[ASN][1000 genomes]
rs8004236	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005261	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8007822	1.00[ASN][1000 genomes]
rs8009666	1.00[ASN][1000 genomes]
rs8010905	1.00[ASN][1000 genomes]
rs8011195	0.85[ASN][1000 genomes]
rs8016140	1.00[ASN][1000 genomes]
rs8019482	0.85[ASN][1000 genomes]
rs8019523	0.85[ASN][1000 genomes]
rs8019700	0.85[ASN][1000 genomes]
rs8019709	0.85[ASN][1000 genomes]
rs876996	1.00[ASN][1000 genomes]
rs9646144	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10136978	PPP2R3C	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:35770400-35789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:35772400-35790400	Weak transcription	Fetal Heart	heart
6	chr14:35772600-35789000	Strong transcription	HepG2	liver
7	chr14:35773400-35789000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:35774200-35789800	Strong transcription	Fetal Thymus	thymus
9	chr14:35774600-35789400	Strong transcription	Dnd41	blood
10	chr14:35775000-35789200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:35775000-35790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:35775800-35789200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:35776400-35789000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:35776400-35789000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:35776600-35789000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:35776800-35789200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:35777000-35789000	Strong transcription	Liver	Liver
18	chr14:35777000-35789400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:35777200-35789000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:35777400-35789000	Strong transcription	Adipose Nuclei	Adipose
21	chr14:35777400-35789200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:35777600-35789000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:35777600-35789000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:35777600-35789000	Strong transcription	Fetal Intestine Large	intestine
25	chr14:35778200-35789200	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:35778400-35789000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr14:35778400-35790200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:35778400-35790200	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:35778400-35799800	Weak transcription	Stomach Mucosa	stomach
30	chr14:35778600-35789000	Strong transcription	Left Ventricle	heart
31	chr14:35781000-35789800	Weak transcription	Fetal Brain Male	brain
32	chr14:35782600-35795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:35783400-35800600	Weak transcription	NHEK	skin
34	chr14:35784000-35790000	Strong transcription	Fetal Stomach	stomach
35	chr14:35784800-35789800	Weak transcription	Aorta	Aorta
36	chr14:35784800-35790000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:35784800-35790000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:35784800-35804600	Weak transcription	Ovary	ovary
39	chr14:35784800-35804600	Weak transcription	Psoas Muscle	Psoas
40	chr14:35785400-35800800	Weak transcription	K562	blood
41	chr14:35786400-35789000	Strong transcription	Primary T cells from cord blood	blood
42	chr14:35786400-35789000	Strong transcription	Spleen	Spleen
43	chr14:35786400-35790000	Strong transcription	Thymus	Thymus
44	chr14:35786600-35789000	Strong transcription	Primary B cells from cord blood	blood
45	chr14:35786600-35789000	Strong transcription	Brain Anterior Caudate	brain
46	chr14:35786800-35789000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:35786800-35789000	Strong transcription	Lung	lung
48	chr14:35786800-35790000	Strong transcription	Fetal Intestine Small	intestine
49	chr14:35787000-35789000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:35787200-35789800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links