Variant report

Variant	rs13303358
Chromosome Location	chr12:123983753-123983754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123981817..123985054-chr12:123986830..123990425,4	K562	blood:
2	chr12:123982775..123984633-chr12:124027531..124030099,2	MCF-7	breast:
3	chr12:123982403..123985718-chr12:123986410..123989234,3	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11497310	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11497313	1.00[ASN][1000 genomes]
rs11507739	1.00[ASN][1000 genomes]
rs11507743	0.86[EUR][1000 genomes]
rs11516174	0.84[EUR][1000 genomes]
rs11516175	0.87[EUR][1000 genomes]
rs11516178	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11522340	1.00[ASN][1000 genomes]
rs11522341	0.95[EUR][1000 genomes]
rs11522342	0.95[EUR][1000 genomes]
rs11522343	0.90[EUR][1000 genomes]
rs11523309	0.93[EUR][1000 genomes]
rs11534428	1.00[ASN][1000 genomes]
rs11535679	0.88[EUR][1000 genomes]
rs11559494	1.00[ASN][1000 genomes]
rs11560820	1.00[ASN][1000 genomes]
rs13303266	1.00[ASN][1000 genomes]
rs28483351	1.00[ASN][1000 genomes]
rs28493578	0.93[EUR][1000 genomes]
rs28613273	1.00[ASN][1000 genomes]
rs28703907	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28728075	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28781570	0.87[EUR][1000 genomes]
rs28829651	1.00[ASN][1000 genomes]
rs28894691	0.87[EUR][1000 genomes]
rs3087496	1.00[ASN][1000 genomes]
rs34031619	1.00[ASN][1000 genomes]
rs35322317	1.00[ASN][1000 genomes]
rs4047517	1.00[ASN][1000 genomes]
rs4078291	1.00[ASN][1000 genomes]
rs4479070	1.00[ASN][1000 genomes]
rs61953496	0.87[EUR][1000 genomes]
rs6606747	1.00[ASN][1000 genomes]
rs7300562	1.00[ASN][1000 genomes]
rs7315901	1.00[ASN][1000 genomes]
rs73412280	1.00[ASN][1000 genomes]
rs7957839	0.87[EUR][1000 genomes]
rs7975636	1.00[ASN][1000 genomes]
rs7978323	1.00[ASN][1000 genomes]
rs9330649	1.00[ASN][1000 genomes]
rs9330650	1.00[ASN][1000 genomes]
rs9697264	1.00[ASN][1000 genomes]
rs9697330	0.85[EUR][1000 genomes]
rs9697415	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9697423	0.95[EUR][1000 genomes]
rs9697459	1.00[ASN][1000 genomes]
rs9697616	1.00[ASN][1000 genomes]
rs9697628	1.00[ASN][1000 genomes]
rs9697735	1.00[ASN][1000 genomes]
rs9723026	0.90[EUR][1000 genomes]
rs9723192	1.00[ASN][1000 genomes]
rs9723244	0.81[EUR][1000 genomes]
rs9777715	0.87[EUR][1000 genomes]
rs9777813	1.00[ASN][1000 genomes]
rs9777830	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9778112	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1037260	chr12:123956749-124023069	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13303358	RP11-486O12.2	cis	Thyroid	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123949000-123984400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
5	chr12:123956800-123993400	Weak transcription	HMEC	breast
6	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
7	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
10	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:123960000-123995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:123968800-123995400	Weak transcription	NH-A	brain
14	chr12:123969000-123993800	Weak transcription	HUVEC	blood vessel
15	chr12:123969400-123984600	Weak transcription	Thymus	Thymus
16	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:123973600-123995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:123974600-123995400	Weak transcription	Dnd41	blood
19	chr12:123975600-123985400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:123977400-123994200	Weak transcription	Fetal Heart	heart
21	chr12:123978400-123984200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:123978400-123985800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:123978800-123984000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:123978800-123984800	Strong transcription	Fetal Intestine Small	intestine
25	chr12:123979000-123984000	Strong transcription	Adipose Nuclei	Adipose
26	chr12:123979000-123984400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:123979200-123984600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:123979600-123991800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:123979600-123994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:123979800-123984400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:123979800-123984600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:123979800-123988600	Weak transcription	Right Atrium	heart
34	chr12:123979800-123989000	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:123980600-123984000	Strong transcription	Right Ventricle	heart
36	chr12:123980600-123984200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:123980800-123984000	Strong transcription	Ovary	ovary
38	chr12:123980800-123984200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:123980800-123984200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:123980800-123984200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:123980800-123984200	Strong transcription	Osteobl	bone
42	chr12:123980800-123984400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:123980800-123984400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:123980800-123984400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:123980800-123984800	Strong transcription	Fetal Brain Female	brain
46	chr12:123980800-123985400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:123980800-123995400	Weak transcription	Primary T cells from cord blood	blood
48	chr12:123981000-123984000	Strong transcription	Left Ventricle	heart
49	chr12:123981000-123984200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:123981000-123984200	Strong transcription	Fetal Intestine Large	intestine

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