Variant report

Variant	rs11953198
Chromosome Location	chr5:108262592-108262593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11948270	0.92[YRI][hapmap]
rs11948881	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs11949066	0.82[EUR][1000 genomes]
rs11952572	0.82[EUR][1000 genomes]
rs11953486	0.80[EUR][1000 genomes]
rs11954716	0.83[CEU][hapmap]
rs11958918	1.00[GIH][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs11959681	1.00[GIH][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11960268	0.81[AFR][1000 genomes]
rs11960713	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17161573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17161574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17450296	1.00[JPT][hapmap]
rs3797817	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3797822	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3797823	0.95[LWK][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs3797825	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs3851456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3851457	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs56134914	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381733	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56792678	1.00[ASN][1000 genomes]
rs57158292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58620246	0.93[ASN][1000 genomes]
rs58642014	1.00[ASN][1000 genomes]
rs58729959	0.81[AFR][1000 genomes]
rs59055229	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59923567	1.00[ASN][1000 genomes]
rs61090818	1.00[ASN][1000 genomes]
rs61640970	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594344	0.80[ASN][1000 genomes]
rs66485253	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66834040	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66851282	0.83[AFR][1000 genomes]
rs67145801	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67156774	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67338203	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6872299	0.82[AFR][1000 genomes]
rs6872912	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6893501	0.82[AFR][1000 genomes]
rs72787096	0.80[EUR][1000 genomes]
rs72787098	0.80[EUR][1000 genomes]
rs72787100	0.80[EUR][1000 genomes]
rs72787101	0.80[EUR][1000 genomes]
rs72787102	0.80[EUR][1000 genomes]
rs72789304	0.80[EUR][1000 genomes]
rs72789306	0.80[EUR][1000 genomes]
rs72789307	0.80[EUR][1000 genomes]
rs72789308	0.80[EUR][1000 genomes]
rs72789309	0.80[EUR][1000 genomes]
rs72793903	0.86[EUR][1000 genomes]
rs72793905	0.87[EUR][1000 genomes]
rs72793906	0.87[EUR][1000 genomes]
rs72793909	0.88[EUR][1000 genomes]
rs72793918	0.84[EUR][1000 genomes]
rs72793920	0.84[EUR][1000 genomes]
rs72793922	0.84[EUR][1000 genomes]
rs72793923	0.84[EUR][1000 genomes]
rs72793926	0.80[EUR][1000 genomes]
rs72793927	0.80[EUR][1000 genomes]
rs72793930	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793933	0.80[EUR][1000 genomes]
rs73209329	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73209333	1.00[ASN][1000 genomes]
rs73209338	1.00[ASN][1000 genomes]
rs73209345	1.00[ASN][1000 genomes]
rs73209347	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73209352	1.00[ASN][1000 genomes]
rs73209366	1.00[ASN][1000 genomes]
rs73211525	1.00[ASN][1000 genomes]
rs73211537	1.00[ASN][1000 genomes]
rs73211547	1.00[ASN][1000 genomes]
rs73211557	1.00[ASN][1000 genomes]
rs73211567	0.93[ASN][1000 genomes]
rs73211580	0.93[ASN][1000 genomes]
rs73211584	0.80[ASN][1000 genomes]
rs73780769	1.00[ASN][1000 genomes]
rs7713828	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715534	1.00[CHB][hapmap]
rs7723264	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723604	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723612	1.00[ASN][1000 genomes]
rs7723644	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731221	0.84[AFR][1000 genomes]
rs7734904	1.00[GIH][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs7735425	0.80[EUR][1000 genomes]
rs7736915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
3	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
5	chr5:108214200-108272200	Weak transcription	Gastric	stomach
6	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
7	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:108229600-108269800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:108230200-108302400	Weak transcription	HSMM	muscle
10	chr5:108242200-108271000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:108247200-108277600	Weak transcription	Fetal Lung	lung
13	chr5:108250400-108277600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:108254000-108266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:108254000-108269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:108260400-108268000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:108260600-108267200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:108260600-108269800	Weak transcription	Fetal Intestine Small	intestine
20	chr5:108260600-108270800	Weak transcription	Ovary	ovary
21	chr5:108260600-108277600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:108260800-108263600	Weak transcription	K562	blood
23	chr5:108261400-108262600	Weak transcription	HepG2	liver
24	chr5:108262200-108262600	Enhancers	Dnd41	blood

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