Variant report

Variant	rs12873154
Chromosome Location	chr13:110920852-110920853
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	chr13:110919933..110922792-chr13:110926003..110927619,2	K562	blood:
2	chr13:110919933..110922035-chr13:110926119..110928114,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11616893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619113	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987036	1.00[ASN][1000 genomes]
rs594377	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs621504	1.00[JPT][hapmap]
rs9521666	1.00[ASW][hapmap]
rs9559759	1.00[CEU][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs9634591	1.00[ASW][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
rs12873154	C13orf16	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110911200-110924000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:110912200-110924000	Enhancers	Left Ventricle	heart
3	chr13:110914000-110922600	Enhancers	Right Atrium	heart
4	chr13:110915200-110936200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:110915600-110935800	Weak transcription	Gastric	stomach
6	chr13:110916200-110921400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:110916400-110921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:110916400-110921400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr13:110916400-110921400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:110916400-110921400	Enhancers	Spleen	Spleen
11	chr13:110916600-110922200	Weak transcription	HSMM	muscle
12	chr13:110916600-110935800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr13:110916800-110924800	Weak transcription	HSMMtube	muscle
14	chr13:110916800-110927800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:110917000-110922600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:110917200-110921600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:110917200-110921600	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr13:110917200-110924000	Genic enhancers	Fetal Muscle Leg	muscle
19	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
20	chr13:110918000-110921000	Weak transcription	Ovary	ovary
21	chr13:110918000-110924600	Weak transcription	Fetal Kidney	kidney
22	chr13:110918200-110935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:110918400-110921200	Enhancers	Fetal Lung	lung
24	chr13:110918600-110922600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:110918600-110924000	Enhancers	Rectal Smooth Muscle	rectum
26	chr13:110918600-110924200	Enhancers	Right Ventricle	heart
27	chr13:110918800-110930000	Weak transcription	Fetal Intestine Small	intestine
28	chr13:110919200-110921000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:110919200-110921000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:110919200-110921400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr13:110919200-110928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:110919400-110921000	Weak transcription	NH-A	brain
33	chr13:110919600-110921000	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:110919600-110921400	Strong transcription	Fetal Stomach	stomach
35	chr13:110919600-110927200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:110919600-110928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:110919600-110938600	Weak transcription	HMEC	breast
38	chr13:110919800-110921000	Weak transcription	Esophagus	oesophagus
39	chr13:110919800-110921000	Weak transcription	Placenta	Placenta
40	chr13:110919800-110921200	Weak transcription	Osteobl	bone
41	chr13:110919800-110922800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:110919800-110929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:110919800-110937600	Weak transcription	NHEK	skin
44	chr13:110920000-110921000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:110920000-110924600	Weak transcription	HUVEC	blood vessel
46	chr13:110920000-110929400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:110920400-110921200	Enhancers	NHDF-Ad	bronchial
49	chr13:110920400-110921400	Enhancers	Aorta	Aorta
50	chr13:110920400-110921400	Genic enhancers	Lung	lung

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