Variant report

Variant	rs1031474
Chromosome Location	chr8:131117997-131117998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088575	0.84[AFR][1000 genomes]
rs10089819	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10091450	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100892	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10101611	0.80[AFR][1000 genomes]
rs1031475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956512	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11986237	0.84[AFR][1000 genomes]
rs11988989	0.85[AFR][1000 genomes]
rs12679149	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1426101	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2670885	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2670888	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2670891	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2791338	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28380096	0.80[AFR][1000 genomes]
rs28495072	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55756220	0.82[AFR][1000 genomes]
rs6415510	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6470801	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470804	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003309	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004884	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008507	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7846376	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9297805	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131091000-131120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:131096600-131120000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:131101800-131121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:131102000-131123000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:131103000-131122400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:131103400-131119000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:131103600-131118200	Weak transcription	GM12878-XiMat	blood
9	chr8:131103600-131121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:131103600-131122400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:131103800-131120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:131103800-131122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131103800-131122800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:131104200-131121400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:131104400-131118000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:131104400-131118000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:131104400-131118000	Weak transcription	Right Ventricle	heart
18	chr8:131104400-131118000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:131104400-131120000	Weak transcription	Dnd41	blood
20	chr8:131104400-131120400	Weak transcription	Colonic Mucosa	Colon
21	chr8:131104400-131122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:131104400-131122600	Weak transcription	Pancreas	Pancrea
23	chr8:131104400-131123600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:131104600-131118000	Weak transcription	Ovary	ovary
25	chr8:131104600-131120000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:131104600-131120200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:131104600-131120200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:131104600-131121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:131104800-131118000	Weak transcription	Fetal Intestine Large	intestine
30	chr8:131104800-131118600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:131104800-131118800	Weak transcription	Fetal Thymus	thymus
32	chr8:131105000-131118800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:131105000-131119600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:131105000-131120000	Weak transcription	Fetal Lung	lung
35	chr8:131105000-131123600	Weak transcription	Fetal Kidney	kidney
36	chr8:131105600-131118000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:131105600-131118400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:131105800-131124000	Weak transcription	Fetal Brain Male	brain
39	chr8:131107400-131120000	Weak transcription	K562	blood
40	chr8:131107400-131122000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:131107600-131118000	Weak transcription	Brain Angular Gyrus	brain
42	chr8:131107600-131118200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:131107600-131118200	Weak transcription	HepG2	liver
44	chr8:131108600-131122200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:131108800-131118800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:131109200-131118000	Weak transcription	Placenta	Placenta
47	chr8:131109800-131118000	Weak transcription	Thymus	Thymus
48	chr8:131109800-131118400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:131109800-131123800	Weak transcription	Gastric	stomach
50	chr8:131110000-131118000	Weak transcription	Aorta	Aorta

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