Variant report

Variant	rs7338999
Chromosome Location	chr13:48697842-48697843
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1327655	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17350996	0.87[EUR][1000 genomes]
rs2025865	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3809330	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4941627	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942742	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4942743	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942747	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942748	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4942749	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942750	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942751	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942752	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59829900	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6561434	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317431	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7318704	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7322766	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7323969	0.88[EUR][1000 genomes]
rs7331551	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7332147	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7332326	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7333247	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7338844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7981114	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7986400	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990060	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9285165	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316346	0.83[EUR][1000 genomes]
rs9316347	0.83[EUR][1000 genomes]
rs9316348	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316349	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9316352	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316353	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316354	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316355	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9316356	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316357	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316358	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316359	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526446	0.95[ASN][1000 genomes]
rs9562800	0.84[EUR][1000 genomes]
rs9562806	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9562808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9567993	0.86[EUR][1000 genomes]
rs9567994	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9567999	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568000	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568001	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568002	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568003	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568004	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568005	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9568006	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568009	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568010	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568014	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9591135	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591138	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591139	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591140	0.88[EUR][1000 genomes]
rs9595835	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9595836	0.84[EUR][1000 genomes]
rs9595837	0.81[EUR][1000 genomes]
rs9595843	0.88[EUR][1000 genomes]
rs9595851	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:48691200-48698400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:48695800-48698000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:48695800-48699600	Weak transcription	HUVEC	blood vessel
5	chr13:48695800-48700000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:48695800-48701200	Weak transcription	Fetal Intestine Small	intestine
7	chr13:48696000-48698000	Weak transcription	Right Ventricle	heart
8	chr13:48696000-48698000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:48696000-48698000	Weak transcription	HSMMtube	muscle
10	chr13:48696000-48699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:48696200-48698000	Weak transcription	Ovary	ovary
12	chr13:48696200-48698000	Weak transcription	Right Atrium	heart
13	chr13:48696200-48698400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr13:48696200-48699800	Weak transcription	Fetal Kidney	kidney
15	chr13:48696200-48701200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:48696200-48701200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:48696400-48698000	Weak transcription	Lung	lung
18	chr13:48696400-48698000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:48696400-48698000	Weak transcription	Small Intestine	intestine
20	chr13:48696400-48699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:48696400-48699800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:48697400-48701400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:48697600-48698800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:48697600-48698800	Enhancers	NHEK	skin
25	chr13:48697800-48698600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:48697800-48698600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr13:48697800-48698600	Enhancers	Hela-S3	cervix
28	chr13:48697800-48698600	Enhancers	HMEC	breast
29	chr13:48697800-48699000	Enhancers	Colon Smooth Muscle	Colon
30	chr13:48697800-48699200	Enhancers	Stomach Smooth Muscle	stomach
31	chr13:48697800-48699800	Enhancers	HepG2	liver
32	chr13:48697800-48702200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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