Variant report

Variant	rs668149
Chromosome Location	chr13:110921995-110921996
allele	C/T
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: 23 )
Associated
traits (count: 2 )

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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58455864	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594377	1.00[CHB][hapmap]
rs595325	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]
rs61963337	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963356	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963357	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963358	0.93[AMR][1000 genomes];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];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623157	0.89[CEU][hapmap];1.00[CHB][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs668149	C13orf16	cis	cerebellum	SCAN
rs668149	FHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:61 , 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	chr13:110916600-110922200	Weak transcription	HSMM	muscle
7	chr13:110916600-110935800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr13:110916800-110924800	Weak transcription	HSMMtube	muscle
9	chr13:110916800-110927800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:110917000-110922600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:110917200-110924000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
13	chr13:110918000-110924600	Weak transcription	Fetal Kidney	kidney
14	chr13:110918200-110935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:110918600-110922600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:110918600-110924000	Enhancers	Rectal Smooth Muscle	rectum
17	chr13:110918600-110924200	Enhancers	Right Ventricle	heart
18	chr13:110918800-110930000	Weak transcription	Fetal Intestine Small	intestine
19	chr13:110919200-110928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:110919600-110927200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:110919600-110928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:110919600-110938600	Weak transcription	HMEC	breast
23	chr13:110919800-110922800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:110919800-110929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:110919800-110937600	Weak transcription	NHEK	skin
26	chr13:110920000-110924600	Weak transcription	HUVEC	blood vessel
27	chr13:110920000-110929400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:110920400-110922600	Genic enhancers	Adipose Nuclei	Adipose
30	chr13:110920400-110923600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:110920600-110922400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:110920600-110922400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr13:110920600-110923400	Enhancers	Fetal Heart	heart
34	chr13:110920600-110934200	Weak transcription	Pancreas	Pancrea
35	chr13:110920800-110922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr13:110920800-110923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:110921000-110922200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:110921000-110923800	Enhancers	Ovary	ovary
39	chr13:110921000-110926000	Strong transcription	NH-A	brain
40	chr13:110921000-110929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:110921200-110923200	Weak transcription	Placenta	Placenta
42	chr13:110921200-110927000	Weak transcription	NHDF-Ad	bronchial
43	chr13:110921200-110927200	Strong transcription	Osteobl	bone
44	chr13:110921200-110929800	Weak transcription	Fetal Lung	lung
45	chr13:110921400-110922000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:110921400-110922000	Weak transcription	Lung	lung
47	chr13:110921400-110922400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr13:110921400-110923000	Weak transcription	Aorta	Aorta
49	chr13:110921400-110924800	Weak transcription	Fetal Stomach	stomach
50	chr13:110921400-110925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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