Variant report

Variant	rs13253189
Chromosome Location	chr8:131146003-131146004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1008819	0.80[YRI][hapmap]
rs1030386	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11993716	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546206	0.86[LWK][hapmap];0.89[YRI][hapmap]
rs12675936	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12676014	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12676536	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12676977	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12681590	1.00[JPT][hapmap]
rs13256967	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13269931	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904201	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16904220	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16904228	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1978551	0.94[YRI][hapmap]
rs2114197	0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs2791349	0.86[LWK][hapmap]
rs34387098	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34857454	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36004599	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55815182	0.93[ASN][1000 genomes]
rs61558949	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66488832	0.81[EUR][1000 genomes]
rs6984815	0.84[LWK][hapmap];0.80[MEX][hapmap]
rs6986746	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7006658	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014715	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7017795	0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7018391	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73425364	0.85[ASN][1000 genomes]
rs7386417	0.83[LWK][hapmap]
rs7822764	0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs7836536	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7837833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs897050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
5	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
7	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:131133000-131147000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:131135600-131147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
12	chr8:131138400-131146400	Strong transcription	HSMM	muscle
13	chr8:131138800-131146400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:131139000-131156000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr8:131139200-131146200	Strong transcription	Osteobl	bone
17	chr8:131139400-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:131140000-131147000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:131140000-131148000	Weak transcription	Fetal Heart	heart
20	chr8:131140000-131156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:131140200-131146200	Weak transcription	K562	blood
23	chr8:131140200-131146800	Weak transcription	Fetal Kidney	kidney
24	chr8:131140400-131148200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:131141400-131164400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:131142000-131146200	Strong transcription	NH-A	brain
27	chr8:131142000-131150800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:131142200-131151400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:131142200-131153000	Strong transcription	Fetal Muscle Leg	muscle
30	chr8:131142600-131147000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:131142600-131147200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:131142800-131147600	Strong transcription	Left Ventricle	heart
33	chr8:131142800-131150400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:131142800-131151800	Strong transcription	Primary T cells from cord blood	blood
35	chr8:131143000-131146800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:131143000-131146800	Strong transcription	HSMMtube	muscle
37	chr8:131143000-131148600	Strong transcription	Fetal Intestine Small	intestine
38	chr8:131143000-131148800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:131143000-131149200	Strong transcription	Liver	Liver
40	chr8:131143000-131150000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr8:131143000-131150200	Strong transcription	Fetal Intestine Large	intestine
42	chr8:131143000-131150600	Strong transcription	Adipose Nuclei	Adipose
43	chr8:131143000-131151200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:131143000-131153200	Strong transcription	Placenta	Placenta
45	chr8:131143000-131155200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:131143200-131149600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:131143200-131151000	Strong transcription	Fetal Stomach	stomach
48	chr8:131143400-131150000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:131143400-131150200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:131143400-131153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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