Variant report

Variant	rs7008180
Chromosome Location	chr8:131087778-131087779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131074125..131075625-chr8:131086340..131089322,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10085959	0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs10088575	0.92[AFR][1000 genomes]
rs10089819	0.86[YRI][hapmap]
rs10091450	0.82[YRI][hapmap]
rs10101611	0.86[AFR][1000 genomes]
rs10106205	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1031475	0.83[AFR][1000 genomes]
rs10956512	0.91[YRI][hapmap]
rs11774131	1.00[EUR][1000 genomes]
rs11776863	0.92[EUR][1000 genomes]
rs11777354	0.87[EUR][1000 genomes]
rs11778454	0.98[EUR][1000 genomes]
rs11779191	0.98[EUR][1000 genomes]
rs11781272	0.90[EUR][1000 genomes]
rs11781294	0.90[EUR][1000 genomes]
rs11781851	0.97[EUR][1000 genomes]
rs11782152	0.90[EUR][1000 genomes]
rs11782883	0.98[EUR][1000 genomes]
rs11783860	0.93[EUR][1000 genomes]
rs11783940	1.00[EUR][1000 genomes]
rs11787251	0.87[EUR][1000 genomes]
rs11986237	0.92[AFR][1000 genomes]
rs11988989	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs12335290	0.84[YRI][hapmap]
rs12679149	0.82[AFR][1000 genomes]
rs16904207	0.87[YRI][hapmap]
rs16904211	0.95[YRI][hapmap]
rs28380096	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28620907	0.84[AFR][1000 genomes]
rs28759724	0.90[EUR][1000 genomes]
rs4319146	0.93[EUR][1000 genomes]
rs4639572	0.95[EUR][1000 genomes]
rs55756220	0.92[AFR][1000 genomes]
rs6470801	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs6989965	0.97[EUR][1000 genomes]
rs7002855	0.81[YRI][hapmap]
rs7003309	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs7003568	0.95[EUR][1000 genomes]
rs7004884	0.95[YRI][hapmap]
rs72722303	0.90[EUR][1000 genomes]
rs72722310	1.00[EUR][1000 genomes]
rs72722316	0.98[EUR][1000 genomes]
rs72722318	0.97[EUR][1000 genomes]
rs72722323	0.97[EUR][1000 genomes]
rs72722325	0.98[EUR][1000 genomes]
rs72722339	0.93[EUR][1000 genomes]
rs72722344	0.93[EUR][1000 genomes]
rs72722347	0.93[EUR][1000 genomes]
rs72722349	0.93[EUR][1000 genomes]
rs72722355	0.90[EUR][1000 genomes]
rs752716	1.00[EUR][1000 genomes]
rs7846376	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
6	chr8:131070400-131089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:131070400-131090800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
10	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:131075600-131094400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr8:131075600-131105000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
14	chr8:131076800-131088400	Weak transcription	Hela-S3	cervix
15	chr8:131076800-131097400	Weak transcription	Fetal Heart	heart
16	chr8:131077600-131097600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr8:131078200-131092400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:131079600-131097000	Strong transcription	Left Ventricle	heart
19	chr8:131080400-131107000	Strong transcription	Placenta	Placenta
20	chr8:131080600-131091800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:131081000-131098000	Weak transcription	Fetal Brain Male	brain
22	chr8:131081200-131094800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:131081400-131087800	Weak transcription	K562	blood
24	chr8:131081400-131092000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:131081600-131089200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:131081800-131093400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:131081800-131095400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:131082000-131092000	Strong transcription	Fetal Muscle Leg	muscle
29	chr8:131082200-131088000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:131082200-131091800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:131082200-131092400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:131082200-131094400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr8:131082400-131105400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:131082600-131090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:131082600-131092600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:131082600-131093800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:131082600-131094000	Strong transcription	NH-A	brain
38	chr8:131082800-131091800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:131082800-131091800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr8:131082800-131091800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:131082800-131094400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:131082800-131095400	Strong transcription	Osteobl	bone
43	chr8:131083200-131091600	Strong transcription	HSMM	muscle
44	chr8:131083200-131092200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr8:131083400-131090800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:131083400-131091200	Strong transcription	HUVEC	blood vessel
47	chr8:131083400-131104800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:131083400-131104800	Strong transcription	Fetal Intestine Large	intestine
49	chr8:131083600-131092000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:131083600-131094400	Strong transcription	Fetal Brain Female	brain

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