Variant report

Variant	rs4639572
Chromosome Location	chr8:131118658-131118659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10106205	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11774067	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11774131	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes]
rs11774834	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes]
rs11774917	0.87[CEU][hapmap];1.00[AFR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes]
rs11775966	1.00[AFR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11777289	1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs11777354	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11778252	1.00[AFR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11778460	1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes]
rs11778881	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes]
rs11779191	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11781272	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11781851	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes]
rs11782152	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11782883	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes]
rs11783860	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11787505	1.00[AFR][1000 genomes]
rs1349847	1.00[LWK][hapmap];0.83[MKK][hapmap]
rs17194770	1.00[LWK][hapmap]
rs28380096	0.97[EUR][1000 genomes]
rs28759724	0.86[EUR][1000 genomes]
rs4319146	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes]
rs7003568	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes]
rs7008180	0.95[EUR][1000 genomes]
rs72720387	1.00[AFR][1000 genomes]
rs72720390	1.00[AFR][1000 genomes]
rs72722303	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes]
rs752716	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7826256	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.84[TSI][hapmap];1.00[AFR][1000 genomes]
rs929990	1.00[AFR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4639572	ASAP1	cis	Liver	GTEx
rs4639572	DDEF1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 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	chr8:131103600-131121400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:131103600-131122400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:131103800-131120000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:131103800-131122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:131103800-131122800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:131104200-131121400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:131104400-131120000	Weak transcription	Dnd41	blood
15	chr8:131104400-131120400	Weak transcription	Colonic Mucosa	Colon
16	chr8:131104400-131122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:131104400-131122600	Weak transcription	Pancreas	Pancrea
18	chr8:131104400-131123600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:131104600-131120000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:131104600-131120200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:131104600-131120200	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:131104600-131121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:131104800-131118800	Weak transcription	Fetal Thymus	thymus
24	chr8:131105000-131118800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:131105000-131119600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:131105000-131120000	Weak transcription	Fetal Lung	lung
27	chr8:131105000-131123600	Weak transcription	Fetal Kidney	kidney
28	chr8:131105800-131124000	Weak transcription	Fetal Brain Male	brain
29	chr8:131107400-131120000	Weak transcription	K562	blood
30	chr8:131107400-131122000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:131108600-131122200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:131108800-131118800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:131109800-131123800	Weak transcription	Gastric	stomach
34	chr8:131110000-131122000	Weak transcription	Esophagus	oesophagus
35	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:131113400-131128200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:131114600-131120000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:131114600-131137200	Strong transcription	A549	lung
40	chr8:131114800-131119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
46	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:131116200-131122400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr8:131116800-131124000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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