Variant report

Variant	rs8011465
Chromosome Location	chr14:35692226-35692227
allele	G/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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35689608..35693753-chr14:35865249..35869361,6	MCF-7	breast:
2	chr14:35688330..35694959-chr14:35872168..35876310,11	MCF-7	breast:
3	chr14:35688349..35704994-chr14:35861790..35878218,62	MCF-7	breast:
4	chr14:35691799..35693789-chr14:35869407..35870922,2	MCF-7	breast:
5	chr14:35686289..35689238-chr14:35690846..35692653,2	K562	blood:
6	chr14:35687707..35690246-chr14:35690578..35692404,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R3C-4	chr14:35691819-35692693	l_962_chr14:35668508-35676460_thyroid

No data

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10134834	0.82[EUR][1000 genomes]
rs1040840	0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs1074269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11156876	0.80[EUR][1000 genomes]
rs12147110	0.94[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs12586302	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs12586550	0.98[ASN][1000 genomes]
rs12589317	0.98[ASN][1000 genomes]
rs2415275	0.87[JPT][hapmap]
rs2415276	0.82[EUR][1000 genomes]
rs2415277	0.82[EUR][1000 genomes]
rs2899831	0.81[EUR][1000 genomes]
rs34624268	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4530028	0.82[EUR][1000 genomes]
rs4981273	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs4981274	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981278	0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs4981279	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4981281	0.92[ASN][1000 genomes]
rs4982249	0.94[ASN][1000 genomes]
rs4982250	0.82[JPT][hapmap]
rs6571704	0.97[ASN][1000 genomes]
rs7143346	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7153693	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7157054	0.91[ASN][1000 genomes]
rs7157736	0.83[EUR][1000 genomes]
rs7158402	0.80[EUR][1000 genomes]
rs7159390	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs727096	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs8004740	0.83[EUR][1000 genomes]
rs8005078	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs8008319	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs8013290	0.99[ASN][1000 genomes]
rs8017268	0.94[ASN][1000 genomes]
rs8181982	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	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
6	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1046992	chr14:35527239-35724227	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv1051274	chr14:35529529-35724227	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1048823	chr14:35537281-35724892	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv542032	chr14:35537281-35724892	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv1040540	chr14:35537481-35724753	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv542033	chr14:35537481-35724753	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1050123	chr14:35546114-35724892	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers 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 target site	27 gene(s)	inside rSNPs	diseases
14	nsv542034	chr14:35546114-35724892	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1043692	chr14:35548276-35720016	Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	nsv564314	chr14:35684196-35702857	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv564315	chr14:35684196-35703839	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv2754534	chr14:35690978-35744839	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35643400-35724000	Weak transcription	Left Ventricle	heart
2	chr14:35650600-35702600	Weak transcription	Liver	Liver
3	chr14:35650800-35707800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:35661000-35736400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:35672000-35742200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:35672200-35700000	Weak transcription	Thymus	Thymus
7	chr14:35674400-35698600	Weak transcription	Dnd41	blood
8	chr14:35674400-35699600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:35674400-35711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:35674800-35737000	Weak transcription	Lung	lung
11	chr14:35675600-35699200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:35678000-35719600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:35679600-35699400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:35679800-35699800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:35680000-35698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:35680800-35729800	Weak transcription	Primary B cells from cord blood	blood
17	chr14:35681000-35729800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:35683600-35693600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:35683800-35693200	Weak transcription	NH-A	brain
20	chr14:35683800-35693200	Weak transcription	NHLF	lung
21	chr14:35684000-35706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:35684600-35699000	Weak transcription	GM12878-XiMat	blood
23	chr14:35684600-35737000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:35684600-35760800	Weak transcription	HSMM	muscle
25	chr14:35684800-35693000	Weak transcription	HSMMtube	muscle
26	chr14:35684800-35703000	Weak transcription	HMEC	breast
27	chr14:35685000-35693200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:35685000-35699800	Weak transcription	Fetal Lung	lung
29	chr14:35685200-35698800	Weak transcription	Hela-S3	cervix
30	chr14:35686800-35693600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:35686800-35735800	Weak transcription	Fetal Intestine Large	intestine
32	chr14:35687400-35716400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:35688600-35699000	Weak transcription	Fetal Thymus	thymus
34	chr14:35688800-35699400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr14:35689000-35699000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:35690200-35730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:35690400-35692800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:35690400-35693000	Weak transcription	A549	lung
39	chr14:35690600-35735800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:35690800-35692600	Enhancers	Colon Smooth Muscle	Colon
41	chr14:35690800-35699000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:35691000-35693400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:35691000-35698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:35691000-35702600	Weak transcription	NHDF-Ad	bronchial
45	chr14:35691000-35702800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:35691200-35693200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:35691200-35735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:35691400-35692400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:35691600-35692400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:35691600-35698800	Weak transcription	Primary T cells from cord blood	blood

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