Variant report

Variant	rs12434541
Chromosome Location	chr14:81944310-81944311
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81941059..81943743-chr14:81944247..81946507,2	MCF-7	breast:
2	chr14:81939814..81941759-chr14:81943334..81944844,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11159500	1.00[YRI][hapmap]
rs12100962	1.00[YRI][hapmap]
rs12100967	1.00[YRI][hapmap]
rs12101219	1.00[YRI][hapmap]
rs12185025	0.86[CEU][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12435998	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12436488	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12586522	1.00[YRI][hapmap]
rs12586817	1.00[YRI][hapmap]
rs12589111	1.00[YRI][hapmap]
rs17111805	1.00[YRI][hapmap]
rs17111807	1.00[YRI][hapmap]
rs17111817	1.00[YRI][hapmap]
rs17111825	1.00[YRI][hapmap]
rs17560087	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1998386	1.00[YRI][hapmap]
rs2371601	1.00[YRI][hapmap]
rs3853422	1.00[YRI][hapmap]
rs56357710	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57665733	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61986625	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61986626	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61986627	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61988565	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72691458	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs731390	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12434541	ADCK1	cis	cerebellum	SCAN
rs12434541	GSTZ1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81931400-81944800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:81931400-81945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:81931400-81945200	Weak transcription	HSMMtube	muscle
4	chr14:81931400-81945400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:81931400-81945600	Weak transcription	Psoas Muscle	Psoas
6	chr14:81931400-81955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:81935400-81944800	Weak transcription	Fetal Brain Female	brain
8	chr14:81938000-81952800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:81938000-81954600	Weak transcription	Fetal Heart	heart
10	chr14:81938400-81947600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr14:81938400-81971000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:81938400-81973400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:81938400-81974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:81938600-81947400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:81938600-81947600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:81938600-81955000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:81938600-81959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:81938600-81963400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:81939400-81944600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:81939600-81960000	Weak transcription	Stomach Mucosa	stomach
23	chr14:81939600-81974600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:81940000-81971200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:81940600-81975000	Strong transcription	Liver	Liver
26	chr14:81941000-81946200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:81941000-81947600	Strong transcription	Placenta	Placenta
28	chr14:81941000-81947800	Strong transcription	Adipose Nuclei	Adipose
29	chr14:81941200-81949200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:81941200-81955800	Strong transcription	Left Ventricle	heart
31	chr14:81941200-81957000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:81941200-81973800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:81941200-81973800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:81941400-81947800	Strong transcription	Primary B cells from cord blood	blood
35	chr14:81941400-81972200	Strong transcription	Fetal Intestine Large	intestine
36	chr14:81941400-81972400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:81941400-81975600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:81941600-81947400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:81941600-81947400	Strong transcription	Fetal Thymus	thymus
40	chr14:81941600-81947800	Strong transcription	Osteobl	bone
41	chr14:81941600-81955000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:81941600-81974600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:81941600-81975000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:81941600-81975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:81941800-81946000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:81941800-81946200	Strong transcription	HUVEC	blood vessel
47	chr14:81941800-81947200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:81941800-81947400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:81941800-81947400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:81941800-81947800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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