Variant report

Variant	rs4982180
Chromosome Location	chr14:34921900-34921901
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34914730..34916776-chr14:34920765..34923718,2	MCF-7	breast:
2	chr14:34904225..34906665-chr14:34920585..34922836,2	MCF-7	breast:
3	chr14:34920582..34922864-chr14:35018787..35021782,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10132233	0.89[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10137714	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10144582	0.87[ASN][1000 genomes]
rs12432137	0.83[ASW][hapmap];0.89[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12434081	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2002517	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs2383633	0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2383634	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs28521575	0.99[ASN][1000 genomes]
rs28635949	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981241	0.94[ASN][1000 genomes]
rs4982178	0.91[ASN][1000 genomes]
rs4982179	0.94[ASN][1000 genomes]
rs4982182	0.93[EUR][1000 genomes]
rs4982183	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs56241228	0.86[ASN][1000 genomes]
rs56728642	0.92[ASN][1000 genomes]
rs57186368	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58203673	0.85[ASN][1000 genomes]
rs58663784	0.99[ASN][1000 genomes]
rs59394498	0.85[ASN][1000 genomes]
rs61472699	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7152281	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154588	0.89[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs7156841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7160736	0.83[ASN][1000 genomes]
rs74046052	0.87[ASN][1000 genomes]
rs74046054	0.92[ASN][1000 genomes]
rs74046057	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9783638	0.92[ASN][1000 genomes]
rs9806112	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs9989160	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4982180	SRP54	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34896400-34922400	Weak transcription	Left Ventricle	heart
2	chr14:34901800-34929400	Weak transcription	K562	blood
3	chr14:34904600-34924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:34904800-34923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:34906000-34922400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:34906800-34922400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:34906800-34923400	Weak transcription	NHLF	lung
8	chr14:34906800-34928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:34906800-34928800	Weak transcription	NH-A	brain
10	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:34907000-34923600	Weak transcription	Liver	Liver
12	chr14:34907200-34922000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
14	chr14:34907400-34922400	Weak transcription	Ovary	ovary
15	chr14:34907400-34929800	Weak transcription	Psoas Muscle	Psoas
16	chr14:34907400-34930000	Weak transcription	Small Intestine	intestine
17	chr14:34908000-34923400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:34910400-34924600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:34910600-34923400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:34911800-34922400	Weak transcription	Lung	lung
21	chr14:34911800-34929200	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:34912000-34930000	Weak transcription	Right Ventricle	heart
23	chr14:34912200-34922400	Weak transcription	HSMMtube	muscle
24	chr14:34913000-34924200	Weak transcription	Placenta	Placenta
25	chr14:34913000-34927000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:34913800-34927200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:34914200-34922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:34914600-34922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:34915000-34929600	Weak transcription	Primary T cells from cord blood	blood
30	chr14:34915000-34930000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:34915200-34927000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:34915200-34929200	Weak transcription	Brain Anterior Caudate	brain
33	chr14:34916000-34929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:34916200-34923400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:34916800-34923200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:34917400-34922600	Weak transcription	Adipose Nuclei	Adipose
37	chr14:34917600-34930400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr14:34917600-34930800	Weak transcription	Spleen	Spleen
39	chr14:34917800-34930000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:34918000-34930000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr14:34918000-34930600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:34918400-34922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:34918400-34922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:34918400-34923200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:34918400-34929000	Weak transcription	Osteobl	bone
46	chr14:34918600-34923000	Weak transcription	Fetal Stomach	stomach
47	chr14:34918600-34923800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:34918600-34930000	Weak transcription	Aorta	Aorta
49	chr14:34919000-34926200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr14:34919200-34922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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