Variant report

Variant	rs923946
Chromosome Location	chr13:110886594-110886595
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	chr13:110884811..110886998-chr13:110899690..110902649,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6492247	1.00[CHD][hapmap];0.88[LWK][hapmap];0.96[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs7318128	1.00[CHD][hapmap]
rs7999790	1.00[CHD][hapmap]
rs913745	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923945	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs923946	C13orf16	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr13:110879000-110888400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:110879000-110889200	Weak transcription	Fetal Intestine Small	intestine
4	chr13:110879600-110890000	Weak transcription	Fetal Kidney	kidney
5	chr13:110881400-110894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:110881400-110899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:110881600-110900600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:110882400-110900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:110882600-110886800	Enhancers	Colon Smooth Muscle	Colon
10	chr13:110882600-110898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:110882600-110899600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:110882800-110900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:110883200-110895000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:110884200-110886600	Enhancers	Fetal Stomach	stomach
16	chr13:110884200-110886800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:110884200-110902200	Weak transcription	HMEC	breast
18	chr13:110884400-110886600	Enhancers	Fetal Heart	heart
19	chr13:110884400-110888800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:110884400-110890200	Weak transcription	Pancreas	Pancrea
21	chr13:110884600-110887200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:110884600-110902400	Weak transcription	NHEK	skin
23	chr13:110884800-110886800	Enhancers	Left Ventricle	heart
24	chr13:110884800-110887200	Enhancers	Placenta	Placenta
25	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:110885200-110887200	Enhancers	Right Ventricle	heart
27	chr13:110885200-110899000	Weak transcription	Fetal Intestine Large	intestine
28	chr13:110885400-110887200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:110885400-110889000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:110885400-110889000	Weak transcription	Esophagus	oesophagus
31	chr13:110885600-110886600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:110885600-110886800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:110885800-110891000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:110886000-110886600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:110886000-110886600	Enhancers	Fetal Lung	lung
36	chr13:110886000-110886800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:110886000-110886800	Enhancers	Ovary	ovary
38	chr13:110886000-110887000	Enhancers	Fetal Muscle Trunk	muscle
39	chr13:110886000-110887200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:110886000-110887200	Enhancers	Rectal Smooth Muscle	rectum
41	chr13:110886000-110887200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr13:110886000-110887200	Genic enhancers	HUVEC	blood vessel
43	chr13:110886000-110888800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:110886000-110890000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:110886200-110886600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
46	chr13:110886200-110886800	Enhancers	Spleen	Spleen
47	chr13:110886200-110886800	Enhancers	NHLF	lung
48	chr13:110886200-110887000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:110886200-110887000	Enhancers	Stomach Smooth Muscle	stomach
50	chr13:110886200-110887200	Enhancers	Fetal Muscle Leg	muscle

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