Variant report

Variant	rs12435764
Chromosome Location	chr14:81836866-81836867
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	chr14:81835420..81837863-chr14:81857937..81859970,2	MCF-7	breast:
2	chr14:81834534..81837450-chr14:81839716..81841468,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10450894	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10450939	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10450940	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11621378	0.85[EUR][1000 genomes]
rs12432021	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12436146	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2012796	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs2371597	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28818872	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3742550	0.90[CHB][hapmap]
rs4083463	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55991247	0.84[EUR][1000 genomes]
rs56161464	0.84[EUR][1000 genomes]
rs56223983	0.84[EUR][1000 genomes]
rs59969857	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61986592	0.84[AMR][1000 genomes]
rs61986593	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61986597	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61986598	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61986599	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574646	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs68143923	0.81[EUR][1000 genomes]
rs7144547	0.95[CHB][hapmap]
rs7146802	0.85[EUR][1000 genomes]
rs7147254	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7153469	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72703728	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8004137	0.95[CHB][hapmap]
rs8007219	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8008024	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8009083	0.87[TSI][hapmap];0.91[YRI][hapmap]
rs8009171	0.90[TSI][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes]
rs8010181	0.91[YRI][hapmap]
rs8020575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	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
4	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12435764	STON2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81830600-81837600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:81831000-81837600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:81831000-81849400	Weak transcription	Fetal Kidney	kidney
4	chr14:81831200-81839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:81832400-81838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:81832800-81838000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:81833000-81837200	Weak transcription	Psoas Muscle	Psoas
8	chr14:81833000-81837800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:81833000-81838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:81833000-81838000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:81833000-81838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:81833000-81839000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:81833000-81841400	Weak transcription	Spleen	Spleen
14	chr14:81833200-81837800	Weak transcription	NHDF-Ad	bronchial
15	chr14:81833200-81839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:81833200-81843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:81833200-81850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:81833400-81838000	Weak transcription	HMEC	breast
20	chr14:81833600-81837600	Strong transcription	Fetal Muscle Leg	muscle
21	chr14:81833600-81838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:81833600-81839800	Weak transcription	Brain Anterior Caudate	brain
23	chr14:81833800-81837200	Weak transcription	Esophagus	oesophagus
24	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
25	chr14:81834400-81837400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:81834400-81838000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:81834400-81839200	Weak transcription	Fetal Intestine Small	intestine
28	chr14:81834600-81837600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr14:81835200-81837200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:81835200-81837400	Strong transcription	NHEK	skin
31	chr14:81835200-81837600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:81835200-81837600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr14:81835400-81837600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:81835400-81837600	Strong transcription	Ovary	ovary
35	chr14:81835600-81839000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:81835800-81843800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:81835800-81851200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:81836000-81837600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:81836000-81837600	Strong transcription	Liver	Liver
40	chr14:81836200-81837400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:81836200-81837600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:81836200-81837600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:81836400-81837200	Strong transcription	K562	blood
44	chr14:81836400-81837600	Strong transcription	Adipose Nuclei	Adipose
45	chr14:81836400-81885800	Weak transcription	Gastric	stomach
46	chr14:81836600-81837000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:81836600-81837400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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