Variant report

Variant	rs1808140
Chromosome Location	chr8:68102977-68102978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67835666..67838767-chr8:68102969..68106135,3	K562	blood:

Variant related genes	Relation type
ENSG00000245910	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10091514	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10100536	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11986053	1.00[JPT][hapmap]
rs11986982	1.00[JPT][hapmap]
rs11997404	1.00[JPT][hapmap]
rs1378999	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919053	1.00[JPT][hapmap]
rs16933106	0.87[EUR][1000 genomes]
rs16933132	1.00[EUR][1000 genomes]
rs16933139	1.00[JPT][hapmap]
rs16933160	1.00[JPT][hapmap]
rs16933162	1.00[JPT][hapmap]
rs16933170	1.00[JPT][hapmap]
rs16933173	1.00[JPT][hapmap]
rs16933182	1.00[JPT][hapmap]
rs16933190	1.00[JPT][hapmap]
rs16933204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933277	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17842082	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290585	1.00[JPT][hapmap]
rs2290586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290587	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305672	1.00[JPT][hapmap]
rs2305673	1.00[JPT][hapmap]
rs28417755	0.80[EUR][1000 genomes]
rs28502563	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4072321	0.88[EUR][1000 genomes]
rs4364616	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592015	0.87[EUR][1000 genomes]
rs58904549	0.92[ASN][1000 genomes]
rs61403252	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984568	1.00[JPT][hapmap]
rs6984597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986871	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988019	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988547	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990298	1.00[JPT][hapmap]
rs6990696	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	1.00[JPT][hapmap]
rs6998170	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7000650	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7003018	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7004391	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005014	1.00[EUR][1000 genomes]
rs7008877	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009678	1.00[JPT][hapmap]
rs7018327	1.00[EUR][1000 genomes]
rs7461383	1.00[JPT][hapmap]
rs7812859	1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819894	1.00[JPT][hapmap]
rs7819895	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs7828748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833956	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7834516	1.00[JPT][hapmap]
rs7841884	1.00[JPT][hapmap]
rs9693185	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr8:68074800-68106200	Weak transcription	Colonic Mucosa	Colon
2	chr8:68075000-68107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:68075400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:68075800-68110800	Weak transcription	HepG2	liver
6	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
7	chr8:68076000-68103000	Weak transcription	NHDF-Ad	bronchial
8	chr8:68076000-68107000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:68076800-68109000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:68077200-68108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:68078800-68110400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:68088000-68105600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:68088000-68107000	Weak transcription	HUVEC	blood vessel
14	chr8:68088200-68103000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:68088200-68106000	Weak transcription	Fetal Brain Male	brain
16	chr8:68088200-68107400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:68088200-68107400	Weak transcription	Spleen	Spleen
18	chr8:68088200-68110800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:68088200-68111000	Weak transcription	Fetal Kidney	kidney
20	chr8:68088200-68111600	Weak transcription	Gastric	stomach
21	chr8:68088400-68103000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:68088400-68107200	Weak transcription	Right Ventricle	heart
23	chr8:68088400-68110800	Weak transcription	Pancreas	Pancrea
24	chr8:68088400-68110800	Weak transcription	Thymus	Thymus
25	chr8:68088600-68104000	Weak transcription	NHEK	skin
26	chr8:68088600-68107400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:68088600-68107600	Weak transcription	Esophagus	oesophagus
28	chr8:68089000-68104800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:68089000-68105200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:68089000-68105200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:68089000-68105200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:68089000-68105400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:68089000-68107400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:68089200-68103200	Weak transcription	HMEC	breast
35	chr8:68089600-68103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:68089600-68105600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:68089600-68107200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:68089600-68111800	Weak transcription	Brain Angular Gyrus	brain
39	chr8:68091000-68103000	Weak transcription	NHLF	lung
40	chr8:68091200-68111600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:68091200-68114600	Weak transcription	Small Intestine	intestine
42	chr8:68091400-68103000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:68091400-68107400	Weak transcription	Aorta	Aorta
44	chr8:68091400-68108200	Weak transcription	Fetal Heart	heart
45	chr8:68091400-68112000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:68091800-68105000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:68091800-68110800	Weak transcription	Brain Substantia Nigra	brain
48	chr8:68092000-68105000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:68092000-68107200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:68092000-68110600	Weak transcription	Brain Hippocampus Middle	brain

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