Variant report

Variant	rs3098724
Chromosome Location	chr8:95509162-95509163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11784188	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11786245	0.81[ASN][1000 genomes]
rs11992717	0.86[ASN][1000 genomes]
rs1866844	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2890827	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3096602	0.81[CHB][hapmap]
rs3096604	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs3096605	0.81[CHB][hapmap]
rs3098705	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098711	0.94[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3098713	0.86[ASW][hapmap];0.81[CHB][hapmap];0.88[YRI][hapmap]
rs3098714	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098717	0.86[ASW][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3098721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098722	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3098723	0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3099405	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3099408	0.86[ASW][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3099411	0.81[CHB][hapmap]
rs3099414	0.91[ASN][1000 genomes]
rs3099416	0.81[CHB][hapmap];0.85[YRI][hapmap]
rs3099418	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3099419	0.85[ASW][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3099420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3099421	0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3099425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3102854	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3102856	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3102857	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102858	0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3102860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102865	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3102866	0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3102870	0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3133598	0.86[ASW][hapmap];0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3133600	0.81[ASN][1000 genomes]
rs3133614	0.81[CHB][hapmap]
rs3133624	0.81[CHB][hapmap]
rs3133636	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133639	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133644	0.81[CHB][hapmap];0.82[YRI][hapmap]
rs3133646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133647	0.81[CHB][hapmap];0.89[YRI][hapmap]
rs3133652	0.82[YRI][hapmap]
rs3133659	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495200-95538400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
4	chr8:95497200-95510600	Weak transcription	Colonic Mucosa	Colon
5	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:95498200-95510200	Weak transcription	Gastric	stomach
7	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95498800-95509400	Weak transcription	Pancreas	Pancrea
9	chr8:95498800-95512200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:95499200-95511800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:95499200-95512200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:95499200-95512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:95499200-95514400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:95499200-95515200	Strong transcription	Fetal Thymus	thymus
15	chr8:95499200-95519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:95499200-95519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:95499400-95509200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:95499400-95509400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:95499400-95512200	Strong transcription	Adipose Nuclei	Adipose
20	chr8:95499400-95512200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr8:95499400-95512400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:95499400-95513200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:95499400-95514200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:95499400-95514400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:95499400-95519000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:95499400-95519000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:95499400-95533400	Strong transcription	Placenta	Placenta
28	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:95499600-95514600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:95499600-95515400	Strong transcription	Liver	Liver
31	chr8:95499800-95509400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:95499800-95511000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr8:95499800-95512200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:95499800-95512600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr8:95500000-95509600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:95500200-95509200	Strong transcription	NH-A	brain
37	chr8:95500200-95510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:95500200-95511800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:95500200-95511800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:95500200-95512000	Strong transcription	Dnd41	blood
41	chr8:95500200-95512200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:95500200-95512200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:95500200-95512800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:95500200-95512800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:95500200-95519000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:95500400-95509200	Strong transcription	Primary T cells from cord blood	blood
47	chr8:95500400-95509800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr8:95500400-95512200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:95500400-95512600	Strong transcription	Fetal Intestine Large	intestine
50	chr8:95500400-95512600	Strong transcription	Fetal Muscle Leg	muscle

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