Variant report

Variant	rs8005261
Chromosome Location	chr14:35800533-35800534
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35785092..35787628-chr14:35800075..35803024,2	MCF-7	breast:
2	chr14:35759879..35772372-chr14:35797131..35808840,38	MCF-7	breast:
3	chr14:35799325..35802587-chr14:35803466..35807668,8	K562	blood:
4	chr14:35798638..35800955-chr14:35861336..35863044,2	K562	blood:
5	chr14:35767852..35773242-chr14:35799435..35804534,8	MCF-7	breast:
6	chr14:35778400..35782010-chr14:35800342..35803588,4	MCF-7	breast:
7	chr14:35792939..35797188-chr14:35798673..35803214,8	MCF-7	breast:
8	chr14:35792975..35797440-chr14:35798201..35801252,6	MCF-7	breast:
9	chr14:35759417..35767612-chr14:35799689..35808998,23	MCF-7	breast:
10	chr14:35729678..35732592-chr14:35800120..35803444,3	MCF-7	breast:
11	chr14:35778351..35785006-chr14:35799640..35807255,11	MCF-7	breast:
12	chr14:35755418..35758074-chr14:35799307..35801251,2	MCF-7	breast:
13	chr14:35799429..35801248-chr14:35836399..35837968,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240392	Chromatin interaction
ENSG00000265530	Chromatin interaction
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10047949	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10131625	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10132920	0.96[ASN][1000 genomes]
rs10134308	0.96[ASN][1000 genomes]
rs10136978	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10137019	0.96[ASN][1000 genomes]
rs10142846	0.96[ASN][1000 genomes]
rs10144857	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146133	0.81[ASN][1000 genomes]
rs10146691	0.92[ASN][1000 genomes]
rs10147645	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10149823	0.89[ASN][1000 genomes]
rs1064248	0.96[ASN][1000 genomes]
rs11844031	1.00[ASN][1000 genomes]
rs11845183	1.00[ASN][1000 genomes]
rs11845364	0.96[ASN][1000 genomes]
rs11848309	0.81[ASN][1000 genomes]
rs11849461	1.00[ASN][1000 genomes]
rs11851820	1.00[ASN][1000 genomes]
rs11852178	1.00[ASN][1000 genomes]
rs12100582	0.96[ASN][1000 genomes]
rs12100980	0.96[ASN][1000 genomes]
rs12436351	1.00[ASN][1000 genomes]
rs17091807	0.88[ASN][1000 genomes]
rs17103111	0.89[ASN][1000 genomes]
rs17103147	0.96[ASN][1000 genomes]
rs17103166	0.92[ASN][1000 genomes]
rs17386684	0.81[ASN][1000 genomes]
rs17456067	0.81[ASN][1000 genomes]
rs1807162	0.81[ASN][1000 genomes]
rs1884715	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2145622	1.00[ASN][1000 genomes]
rs2277459	0.96[ASN][1000 genomes]
rs2277461	0.96[ASN][1000 genomes]
rs2415278	0.96[ASN][1000 genomes]
rs2415284	0.96[ASN][1000 genomes]
rs28470932	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28504476	0.93[ASN][1000 genomes]
rs28505171	0.90[ASN][1000 genomes]
rs28595436	0.96[ASN][1000 genomes]
rs28665705	0.96[ASN][1000 genomes]
rs28708376	0.96[ASN][1000 genomes]
rs28736779	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2899832	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34509212	0.81[ASN][1000 genomes]
rs4494460	0.81[ASN][1000 genomes]
rs55907319	0.96[ASN][1000 genomes]
rs58064181	1.00[ASN][1000 genomes]
rs60940685	0.92[ASN][1000 genomes]
rs62625039	0.81[ASN][1000 genomes]
rs6571709	0.96[ASN][1000 genomes]
rs7148424	0.96[ASN][1000 genomes]
rs7149602	0.96[ASN][1000 genomes]
rs7153807	0.96[ASN][1000 genomes]
rs7154637	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155335	0.96[ASN][1000 genomes]
rs7218	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72664840	0.81[ASN][1000 genomes]
rs72664843	0.81[ASN][1000 genomes]
rs72664854	0.81[ASN][1000 genomes]
rs72664855	0.81[ASN][1000 genomes]
rs73239026	0.93[ASN][1000 genomes]
rs73239030	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73239072	0.96[ASN][1000 genomes]
rs73239074	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73240720	1.00[ASN][1000 genomes]
rs73240721	1.00[ASN][1000 genomes]
rs74043875	1.00[ASN][1000 genomes]
rs743226	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs743227	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7493705	0.96[ASN][1000 genomes]
rs8004236	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8007822	0.96[ASN][1000 genomes]
rs8009666	0.96[ASN][1000 genomes]
rs8010905	0.96[ASN][1000 genomes]
rs8011195	0.81[ASN][1000 genomes]
rs8016140	0.96[ASN][1000 genomes]
rs8019709	0.81[ASN][1000 genomes]
rs876996	0.96[ASN][1000 genomes]
rs9646144	0.89[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	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
7	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
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8005261	PPP2R3C	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:35783400-35800600	Weak transcription	NHEK	skin
3	chr14:35784800-35804600	Weak transcription	Ovary	ovary
4	chr14:35784800-35804600	Weak transcription	Psoas Muscle	Psoas
5	chr14:35785400-35800800	Weak transcription	K562	blood
6	chr14:35787400-35800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:35787600-35800800	Weak transcription	Colonic Mucosa	Colon
8	chr14:35787600-35800800	Weak transcription	Esophagus	oesophagus
9	chr14:35787600-35803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:35788000-35804600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:35788200-35800600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:35788200-35800800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:35788200-35801200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:35788200-35802200	Weak transcription	NHDF-Ad	bronchial
15	chr14:35788400-35800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:35788400-35800800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:35788400-35800800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:35788400-35800800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:35788400-35800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:35788400-35800800	Weak transcription	Fetal Lung	lung
21	chr14:35788400-35800800	Weak transcription	GM12878-XiMat	blood
22	chr14:35788400-35801600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:35788400-35802200	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:35788600-35801200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:35788600-35805800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:35788800-35801000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:35789000-35800600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:35789000-35800600	Weak transcription	Fetal Intestine Large	intestine
29	chr14:35789000-35800800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:35789000-35800800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:35789000-35800800	Weak transcription	Left Ventricle	heart
32	chr14:35789000-35801000	Weak transcription	Adipose Nuclei	Adipose
33	chr14:35789000-35801200	Weak transcription	Primary B cells from cord blood	blood
34	chr14:35789000-35801600	Weak transcription	Primary T cells from cord blood	blood
35	chr14:35789000-35802200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:35789000-35802200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:35789000-35804600	Weak transcription	Brain Anterior Caudate	brain
38	chr14:35789200-35800800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:35789200-35800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:35789400-35802000	Weak transcription	Dnd41	blood
41	chr14:35789800-35800600	Weak transcription	Placenta	Placenta
42	chr14:35790000-35800600	Weak transcription	Fetal Intestine Small	intestine
43	chr14:35790000-35801600	Weak transcription	Thymus	Thymus
44	chr14:35790200-35800800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:35790200-35801800	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:35795600-35800600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:35796000-35803000	Weak transcription	Liver	Liver
48	chr14:35796800-35800800	Weak transcription	A549	lung
49	chr14:35799000-35800800	Enhancers	HepG2	liver
50	chr14:35799400-35800600	Weak transcription	Fetal Thymus	thymus

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