Variant report

Variant	rs10808897
Chromosome Location	chr8:48974616-48974617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10091017	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10097783	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap]
rs10106778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs10113555	0.84[AMR][1000 genomes]
rs10481294	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10958438	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986191	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11991957	0.82[AMR][1000 genomes]
rs11997106	0.86[AMR][1000 genomes]
rs12334811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1551655	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1894311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1903082	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28457765	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs28578331	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28641816	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28702696	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28846382	0.86[ASN][1000 genomes]
rs4618724	0.83[EUR][1000 genomes]
rs4873266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873770	1.00[CEU][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs4873771	0.80[EUR][1000 genomes]
rs4873773	0.87[EUR][1000 genomes]
rs58108179	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6993087	0.87[ASN][1000 genomes]
rs6993292	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72633911	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72633917	0.85[EUR][1000 genomes]
rs7824066	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8178016	1.00[CEU][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap]
rs8178095	1.00[CEU][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs9657054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1798949	chr8:48960737-48976333	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv890852	chr8:48964607-49022082	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv890853	chr8:48964607-49031082	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1025169	chr8:48965133-49024711	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1020050	chr8:48965133-49028634	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48922400-48975400	Weak transcription	Fetal Brain Male	brain
2	chr8:48953200-48983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:48953800-48974800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:48954600-48975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:48954600-48975600	Weak transcription	Pancreas	Pancrea
6	chr8:48954800-48975800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:48955000-48975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:48955800-48975000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:48956000-48974800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:48957200-48975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:48958000-48980600	Weak transcription	Small Intestine	intestine
12	chr8:48958200-48975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:48960400-48975800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:48961000-48975800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:48961000-48976800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:48962400-48975000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:48964200-48975600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:48964800-48982400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:48964800-48986800	Weak transcription	NHEK	skin
20	chr8:48965400-48975400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:48965400-48976400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:48965400-48986400	Weak transcription	HSMMtube	muscle
23	chr8:48965400-48986400	Weak transcription	NHLF	lung
24	chr8:48965400-48987800	Weak transcription	K562	blood
25	chr8:48965600-48975400	Weak transcription	Brain Germinal Matrix	brain
26	chr8:48965600-48975600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:48965600-48982200	Weak transcription	Psoas Muscle	Psoas
28	chr8:48965600-48984200	Weak transcription	Esophagus	oesophagus
29	chr8:48965800-48975200	Weak transcription	Colonic Mucosa	Colon
30	chr8:48965800-48975600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:48965800-48977200	Weak transcription	Brain Angular Gyrus	brain
32	chr8:48965800-48977200	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:48965800-48977200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:48965800-48979000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:48965800-48979600	Weak transcription	HepG2	liver
36	chr8:48965800-48981200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:48965800-48982200	Weak transcription	Aorta	Aorta
38	chr8:48965800-48982200	Weak transcription	Right Ventricle	heart
39	chr8:48965800-48985000	Weak transcription	Gastric	stomach
40	chr8:48966200-48982200	Weak transcription	GM12878-XiMat	blood
41	chr8:48966800-48975200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:48967000-48976200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:48967000-48977400	Weak transcription	Spleen	Spleen
44	chr8:48967200-48981400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:48967600-48981800	Weak transcription	HUVEC	blood vessel
46	chr8:48968200-48974800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:48968200-48977200	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:48968800-48976000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:48969000-48975000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:48969400-48977200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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