Variant report

Variant	rs12235050
Chromosome Location	chr8:121726712-121726713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11986017	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993445	1.00[YRI][hapmap]
rs4360333	1.00[YRI][hapmap]
rs4361791	1.00[YRI][hapmap]
rs4512418	1.00[YRI][hapmap]
rs58720168	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61500490	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987331	1.00[YRI][hapmap]
rs6989022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009272	0.85[ASN][1000 genomes]
rs9642852	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121714800-121729400	Weak transcription	Right Atrium	heart
2	chr8:121715000-121728200	Weak transcription	Psoas Muscle	Psoas
3	chr8:121719400-121736600	Weak transcription	HSMM	muscle
4	chr8:121719600-121736400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:121719600-121739000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:121719800-121729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:121720000-121727000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:121720000-121729400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:121720200-121726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:121722800-121737000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:121723000-121728000	Weak transcription	Spleen	Spleen
12	chr8:121723000-121729600	Weak transcription	Left Ventricle	heart
13	chr8:121723000-121730800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:121723000-121731400	Weak transcription	Fetal Thymus	thymus
15	chr8:121723000-121734200	Weak transcription	Aorta	Aorta
16	chr8:121723400-121727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:121723400-121737000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:121723800-121729400	Weak transcription	Lung	lung
19	chr8:121723800-121730200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:121724000-121727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121724400-121727200	Weak transcription	Liver	Liver
22	chr8:121724600-121727600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:121725000-121727800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:121725200-121728800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:121725400-121728200	Enhancers	Primary T cells from cord blood	blood
26	chr8:121725400-121730600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:121725400-121736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:121725600-121727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:121726000-121729400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:121726200-121727600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:121726200-121728000	Enhancers	Fetal Kidney	kidney
32	chr8:121726200-121729400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:121726200-121729400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:121726400-121726800	Enhancers	Fetal Stomach	stomach
35	chr8:121726400-121727000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:121726400-121727200	Enhancers	HSMMtube	muscle
37	chr8:121726400-121727400	Enhancers	Fetal Lung	lung
38	chr8:121726400-121727400	Enhancers	Fetal Muscle Leg	muscle
39	chr8:121726400-121727800	Enhancers	Adipose Nuclei	Adipose
40	chr8:121726400-121728600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:121726400-121729800	Strong transcription	HepG2	liver
42	chr8:121726400-121731800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:121726600-121727400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr8:121726600-121728800	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:121726600-121731800	Weak transcription	Primary B cells from cord blood	blood

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