Variant report

Variant	rs476241
Chromosome Location	chr13:110924554-110924555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1193069	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1193070	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2847468	0.95[ASN][1000 genomes]
rs497888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs540519	0.80[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs545054	0.91[LWK][hapmap];1.00[YRI][hapmap]
rs554882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs572713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627603	0.80[ASN][1000 genomes]
rs641314	0.84[ASN][1000 genomes]
rs6492252	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs669398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs671633	0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs680860	0.80[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs681777	0.80[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs686642	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs903351	0.82[JPT][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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110915200-110936200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:110915600-110935800	Weak transcription	Gastric	stomach
3	chr13:110916600-110935800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr13:110916800-110924800	Weak transcription	HSMMtube	muscle
5	chr13:110916800-110927800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr13:110917400-110939000	Weak transcription	Fetal Intestine Large	intestine
7	chr13:110918000-110924600	Weak transcription	Fetal Kidney	kidney
8	chr13:110918200-110935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:110918800-110930000	Weak transcription	Fetal Intestine Small	intestine
10	chr13:110919200-110928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:110919600-110927200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:110919600-110928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:110919600-110938600	Weak transcription	HMEC	breast
14	chr13:110919800-110929800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:110919800-110937600	Weak transcription	NHEK	skin
16	chr13:110920000-110924600	Weak transcription	HUVEC	blood vessel
17	chr13:110920000-110929400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:110920200-110951200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:110920600-110934200	Weak transcription	Pancreas	Pancrea
20	chr13:110921000-110926000	Strong transcription	NH-A	brain
21	chr13:110921000-110929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:110921200-110927000	Weak transcription	NHDF-Ad	bronchial
23	chr13:110921200-110927200	Strong transcription	Osteobl	bone
24	chr13:110921200-110929800	Weak transcription	Fetal Lung	lung
25	chr13:110921400-110924800	Weak transcription	Fetal Stomach	stomach
26	chr13:110921400-110925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:110921400-110926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:110921400-110926600	Weak transcription	Spleen	Spleen
29	chr13:110921400-110935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:110921400-110935800	Weak transcription	Esophagus	oesophagus
31	chr13:110922200-110935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:110922400-110926800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:110922600-110926600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:110922600-110934000	Weak transcription	HSMM	muscle
35	chr13:110922600-110934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:110923000-110925200	Enhancers	Aorta	Aorta
37	chr13:110923200-110924800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:110923200-110925800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:110923400-110924600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:110923400-110926800	Weak transcription	NHLF	lung
41	chr13:110923400-110931200	Weak transcription	Lung	lung
42	chr13:110923600-110924800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:110923800-110924600	Weak transcription	Ovary	ovary
44	chr13:110923800-110924800	Weak transcription	Colon Smooth Muscle	Colon
45	chr13:110923800-110926200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:110923800-110929600	Enhancers	Fetal Heart	heart
47	chr13:110924000-110924600	Weak transcription	Placenta	Placenta
48	chr13:110924000-110924800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:110924000-110924800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr13:110924000-110924800	Weak transcription	Fetal Muscle Leg	muscle

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