Variant report

Variant	rs7147346
Chromosome Location	chr14:35500702-35500703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35500095..35502926-chr14:35557815..35560264,2	MCF-7	breast:
2	chr14:35499235..35502810-chr14:35514800..35516736,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151327	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10130702	0.96[ASN][1000 genomes]
rs10130877	0.96[ASN][1000 genomes]
rs10132452	0.92[ASN][1000 genomes]
rs10133628	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10135024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10135457	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135654	0.96[ASN][1000 genomes]
rs10137757	0.84[CHB][hapmap]
rs10143040	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10143749	0.94[ASN][1000 genomes]
rs10145490	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10147046	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10148463	0.94[ASN][1000 genomes]
rs10149083	0.96[ASN][1000 genomes]
rs10151096	0.96[ASN][1000 genomes]
rs10151445	0.94[ASN][1000 genomes]
rs1028447	0.94[ASN][1000 genomes]
rs12050394	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12433712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12434719	0.96[ASN][1000 genomes]
rs12437158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12586945	0.96[ASN][1000 genomes]
rs12589238	0.96[ASN][1000 genomes]
rs12590905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12878315	0.96[ASN][1000 genomes]
rs12878685	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12878970	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12881501	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12882728	0.94[ASN][1000 genomes]
rs12886340	0.93[ASN][1000 genomes]
rs12887073	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12887279	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12891283	0.96[ASN][1000 genomes]
rs12891473	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17102982	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1955437	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250579	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2273155	0.88[ASN][1000 genomes]
rs2383691	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2383692	0.85[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2383694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2415263	0.84[CHB][hapmap]
rs2415264	0.84[CHB][hapmap]
rs2415265	0.84[CHB][hapmap]
rs2415267	0.84[CHB][hapmap]
rs28373866	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28479817	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28627922	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28656938	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34793309	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35523754	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35768136	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3759549	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4386037	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4981256	0.96[ASN][1000 genomes]
rs4981257	0.96[ASN][1000 genomes]
rs4982231	0.90[ASN][1000 genomes]
rs4982232	0.96[ASN][1000 genomes]
rs55670220	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs57787567	0.91[ASN][1000 genomes]
rs6571691	0.96[ASN][1000 genomes]
rs6571696	0.84[CHB][hapmap]
rs7144898	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7154181	0.97[ASN][1000 genomes]
rs7158547	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7159696	0.99[ASN][1000 genomes]
rs72474105	0.89[ASN][1000 genomes]
rs8004237	0.91[ASN][1000 genomes]
rs8005641	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8006578	0.95[ASN][1000 genomes]
rs8006908	0.94[ASN][1000 genomes]
rs8009854	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs8012308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8015059	0.96[ASN][1000 genomes]
rs8015200	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8017611	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8018702	0.95[ASN][1000 genomes]
rs8018761	0.94[ASN][1000 genomes]
rs8020050	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8021502	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9322942	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	52 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers 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	48 gene(s)	inside rSNPs	diseases
10	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
11	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS 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	52 gene(s)	inside rSNPs	diseases
12	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription 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 target site	26 gene(s)	inside rSNPs	diseases
13	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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 target site	26 gene(s)	inside rSNPs	diseases
14	nsv901610	chr14:35470049-35509571	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv901611	chr14:35470049-35540764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
17	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking 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	30 gene(s)	inside rSNPs	diseases
18	nsv1239	chr14:35477657-35522987	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	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
20	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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
21	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	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
23	nsv1043801	chr14:35493065-35539399	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7147346	PPP2R3C	Cis_1M	lymphoblastoid	RTeQTL
rs7147346	FAM177A1	cis	Lymphoblastoid	GTEx
rs7147346	LCE2D	trans	parietal	SCAN
rs7147346	PPP2R3C	cis	Whole Blood	GTEx
rs7147346	SRP54	cis	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
2	chr14:35466000-35501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:35466000-35503800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:35466600-35502000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:35466800-35502800	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:35467600-35503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:35468600-35501600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:35470600-35502600	Strong transcription	Liver	Liver
9	chr14:35471800-35501600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:35473400-35501800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:35474200-35501400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:35474400-35503400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:35475800-35503200	Strong transcription	Adipose Nuclei	Adipose
14	chr14:35477000-35502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:35477200-35502200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:35477200-35502800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:35477200-35502800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr14:35477400-35502400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:35480000-35503200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:35480400-35504000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:35481600-35501200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:35481600-35502400	Strong transcription	Dnd41	blood
23	chr14:35482200-35501000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:35482800-35503200	Weak transcription	Stomach Mucosa	stomach
25	chr14:35483800-35501200	Strong transcription	Fetal Intestine Large	intestine
26	chr14:35485800-35501800	Weak transcription	Esophagus	oesophagus
27	chr14:35485800-35503200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:35485800-35514800	Weak transcription	Right Ventricle	heart
29	chr14:35488400-35502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:35488600-35514200	Weak transcription	Small Intestine	intestine
31	chr14:35489000-35501200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:35489000-35502400	Weak transcription	NHEK	skin
33	chr14:35489000-35507200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:35489800-35500800	Strong transcription	Fetal Thymus	thymus
35	chr14:35490200-35502600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:35490200-35514600	Weak transcription	NHLF	lung
37	chr14:35490600-35502000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr14:35490600-35502200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:35490600-35503200	Weak transcription	Colonic Mucosa	Colon
40	chr14:35491000-35501400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:35491400-35503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:35492400-35502600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:35493000-35503400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:35493800-35502800	Strong transcription	Fetal Muscle Leg	muscle
45	chr14:35493800-35503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:35494000-35502800	Strong transcription	Ovary	ovary
47	chr14:35494200-35502800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:35494400-35500800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr14:35494400-35501600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:35495200-35500800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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