Variant report

Variant	rs2135987
Chromosome Location	chr8:57878990-57878991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10003	0.90[ASW][hapmap];0.83[CEU][hapmap]
rs1044731	0.90[ASW][hapmap];0.83[CEU][hapmap]
rs10504211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808910	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958514	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779511	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12056416	0.83[CEU][hapmap]
rs12678538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13258916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13275472	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277865	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1396115	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1396116	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1396117	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1605556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921462	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16921483	0.83[CEU][hapmap]
rs34020186	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36065736	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738558	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55659168	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs967930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57866800-57880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:57867600-57881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
6	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
7	chr8:57869400-57881800	Weak transcription	Stomach Mucosa	stomach
8	chr8:57870400-57880600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:57870800-57880200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:57871200-57888400	Weak transcription	HSMMtube	muscle
12	chr8:57872400-57883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:57872600-57880200	Strong transcription	Fetal Intestine Large	intestine
14	chr8:57872600-57880600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:57872600-57881800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:57872600-57882400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr8:57872600-57883200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr8:57872800-57880200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:57872800-57880200	Strong transcription	Liver	Liver
20	chr8:57872800-57880400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:57872800-57880600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:57872800-57881600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:57872800-57882600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:57872800-57885400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:57872800-57891800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:57872800-57892800	Strong transcription	Dnd41	blood
27	chr8:57873000-57880600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:57873200-57880400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:57873200-57881800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:57873200-57882000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:57873400-57880200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr8:57873400-57880400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr8:57873400-57880600	Strong transcription	Primary T cells from cord blood	blood
34	chr8:57874200-57879000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:57874200-57879600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:57874400-57880600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:57874400-57880800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:57874400-57882600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:57874400-57896000	Weak transcription	Right Ventricle	heart
40	chr8:57874600-57880600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:57874600-57882000	Strong transcription	Fetal Thymus	thymus
42	chr8:57874600-57882200	Strong transcription	HSMM	muscle
43	chr8:57874600-57882400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:57874600-57890000	Weak transcription	Brain Angular Gyrus	brain
45	chr8:57874800-57879800	Strong transcription	Placenta	Placenta
46	chr8:57874800-57880000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:57874800-57880200	Strong transcription	Osteobl	bone
48	chr8:57874800-57880600	Strong transcription	A549	lung
49	chr8:57874800-57880600	Strong transcription	GM12878-XiMat	blood
50	chr8:57874800-57882000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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