Variant report

Variant	rs12432137
Chromosome Location	chr14:34908894-34908895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:34908169..34910073-chr14:34929911..34931668,2	MCF-7	breast:
2	chr14:34906840..34909474-chr14:34911416..34913752,2	K562	blood:

Variant related genes	Relation type
ENSG00000165389	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10132233	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137714	0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap]
rs10144582	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12434081	0.83[ASN][1000 genomes]
rs2002517	0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2149904	0.85[EUR][1000 genomes]
rs2383633	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2383634	0.85[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs28375978	0.92[EUR][1000 genomes]
rs28521575	0.90[ASN][1000 genomes]
rs28635949	0.87[ASN][1000 genomes]
rs4981241	0.97[ASN][1000 genomes]
rs4982178	0.87[JPT][hapmap];1.00[ASN][1000 genomes]
rs4982179	0.97[ASN][1000 genomes]
rs4982180	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]
rs56241228	0.93[ASN][1000 genomes]
rs56728642	0.99[ASN][1000 genomes]
rs57186368	0.86[ASN][1000 genomes]
rs58663784	0.90[ASN][1000 genomes]
rs7149054	0.92[EUR][1000 genomes]
rs7152281	0.85[ASN][1000 genomes]
rs7154588	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7156841	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7160736	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74046052	0.94[ASN][1000 genomes]
rs74046054	0.99[ASN][1000 genomes]
rs74046057	0.83[ASN][1000 genomes]
rs9783638	0.99[ASN][1000 genomes]
rs9806112	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes]
rs9989160	0.89[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][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
rs12432137	SRP54	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34894200-34914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:34894600-34913400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:34895800-34915400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:34896400-34922400	Weak transcription	Left Ventricle	heart
5	chr14:34899200-34916600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:34900000-34913600	Weak transcription	Fetal Stomach	stomach
7	chr14:34900400-34913000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:34900600-34913000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:34900800-34919000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:34901600-34911200	Weak transcription	Lung	lung
11	chr14:34901600-34913800	Weak transcription	NHEK	skin
12	chr14:34901800-34915800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:34901800-34916600	Weak transcription	Fetal Heart	heart
14	chr14:34901800-34929400	Weak transcription	K562	blood
15	chr14:34903200-34919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:34904600-34924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:34904800-34909000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:34904800-34909600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:34904800-34913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:34904800-34915800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:34904800-34923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:34905000-34917600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:34905400-34917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:34906000-34922400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:34906400-34910400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:34906600-34919800	Weak transcription	HSMM	muscle
27	chr14:34906800-34910600	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:34906800-34917400	Weak transcription	HMEC	breast
29	chr14:34906800-34918800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:34906800-34922400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:34906800-34923400	Weak transcription	NHLF	lung
32	chr14:34906800-34928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:34906800-34928800	Weak transcription	NH-A	brain
34	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:34907000-34911800	Weak transcription	GM12878-XiMat	blood
36	chr14:34907000-34913000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:34907000-34916400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:34907000-34916600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:34907000-34918400	Weak transcription	Hela-S3	cervix
40	chr14:34907000-34919200	Weak transcription	NHDF-Ad	bronchial
41	chr14:34907000-34919800	Weak transcription	HUVEC	blood vessel
42	chr14:34907000-34923600	Weak transcription	Liver	Liver
43	chr14:34907200-34912800	Weak transcription	Right Atrium	heart
44	chr14:34907200-34913000	Weak transcription	Fetal Intestine Small	intestine
45	chr14:34907200-34915200	Weak transcription	Osteobl	bone
46	chr14:34907200-34919400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:34907200-34919800	Weak transcription	Gastric	stomach
48	chr14:34907200-34922000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
50	chr14:34907400-34910400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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