Variant report

Variant	rs595325
Chromosome Location	chr13:110919205-110919206
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11617955	1.00[CHB][hapmap]
rs12428227	0.87[CEU][hapmap]
rs12430390	0.92[EUR][1000 genomes]
rs12866570	1.00[CHB][hapmap]
rs13260	1.00[CHB][hapmap]
rs551212	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs552125	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs56258703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58455864	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594377	1.00[CHB][hapmap]
rs61963337	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963356	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963357	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963358	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61964261	1.00[ASN][1000 genomes]
rs622253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623157	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336547	1.00[CHD][hapmap]
rs73617438	1.00[ASN][1000 genomes]
rs7984789	1.00[CHD][hapmap]
rs9521727	1.00[CHD][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
rs595325	C13orf16	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110901000-110919400	Weak transcription	Fetal Brain Male	brain
2	chr13:110911200-110924000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:110912200-110924000	Enhancers	Left Ventricle	heart
4	chr13:110912400-110919600	Enhancers	NHDF-Ad	bronchial
5	chr13:110913400-110920200	Enhancers	Fetal Heart	heart
6	chr13:110914000-110922600	Enhancers	Right Atrium	heart
7	chr13:110914800-110919400	Weak transcription	Esophagus	oesophagus
8	chr13:110915200-110920000	Enhancers	HUVEC	blood vessel
9	chr13:110915200-110936200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:110915400-110919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:110915400-110919800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:110915400-110920000	Enhancers	Colon Smooth Muscle	Colon
13	chr13:110915600-110935800	Weak transcription	Gastric	stomach
14	chr13:110916200-110921400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:110916400-110919400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:110916400-110919800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr13:110916400-110919800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:110916400-110919800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:110916400-110921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:110916400-110921400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:110916400-110921400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:110916400-110921400	Enhancers	Spleen	Spleen
23	chr13:110916600-110919600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:110916600-110920200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:110916600-110922200	Weak transcription	HSMM	muscle
26	chr13:110916600-110935800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:110916800-110924800	Weak transcription	HSMMtube	muscle
28	chr13:110916800-110927800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr13:110917000-110919800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:110917000-110919800	Strong transcription	Osteobl	bone
31	chr13:110917000-110922600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:110917200-110919600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr13:110917200-110921600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:110917200-110921600	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr13:110917200-110924000	Genic enhancers	Fetal Muscle Leg	muscle
36	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
37	chr13:110917800-110919400	Genic enhancers	NH-A	brain
38	chr13:110917800-110919600	Genic enhancers	Fetal Stomach	stomach
39	chr13:110917800-110920600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:110918000-110921000	Weak transcription	Ovary	ovary
41	chr13:110918000-110924600	Weak transcription	Fetal Kidney	kidney
42	chr13:110918200-110919800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:110918200-110920000	Enhancers	Aorta	Aorta
44	chr13:110918200-110920600	Enhancers	Pancreas	Pancrea
45	chr13:110918200-110935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:110918400-110919400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr13:110918400-110920000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:110918400-110920000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr13:110918400-110921200	Enhancers	Fetal Lung	lung
50	chr13:110918600-110919800	Enhancers	Lung	lung

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