Variant report

Variant	rs2449415
Chromosome Location	chr8:130882151-130882152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10956502	0.87[CHB][hapmap]
rs167238	0.93[CEU][hapmap]
rs16904166	0.83[CHB][hapmap]
rs2046260	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2054632	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2306528	0.87[CHB][hapmap]
rs2449417	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2663613	0.96[CEU][hapmap]
rs2663618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs298601	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs298602	0.93[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs298604	0.93[CEU][hapmap]
rs298607	1.00[CEU][hapmap]
rs298609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap]
rs298610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap]
rs298611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs298612	0.92[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap]
rs298613	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs298616	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs298618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs298619	0.93[CEU][hapmap]
rs2989885	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs383209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs384752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs385022	0.93[CEU][hapmap]
rs389604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap]
rs412941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs476849	0.83[CEU][hapmap]
rs710616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs837065	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs837080	0.93[CEU][hapmap]
rs837081	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap]
rs857233	0.93[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130850800-130884000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:130851000-130883800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:130851600-130884600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:130852000-130883800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:130852200-130883800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr8:130860000-130882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:130862000-130882400	Weak transcription	NHLF	lung
8	chr8:130862600-130884400	Weak transcription	Fetal Brain Male	brain
9	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
10	chr8:130864000-130882400	Weak transcription	Esophagus	oesophagus
11	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:130864600-130882200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:130864600-130882400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:130864600-130882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:130864600-130888200	Weak transcription	Small Intestine	intestine
16	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
18	chr8:130865200-130887200	Weak transcription	Fetal Kidney	kidney
19	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:130865400-130882200	Weak transcription	Brain Germinal Matrix	brain
21	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:130866000-130894800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:130866200-130885400	Weak transcription	Stomach Mucosa	stomach
25	chr8:130866400-130891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:130868000-130891400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:130869800-130895800	Weak transcription	HepG2	liver
28	chr8:130869800-130897600	Weak transcription	Brain Angular Gyrus	brain
29	chr8:130870400-130883400	Weak transcription	Fetal Brain Female	brain
30	chr8:130870600-130886000	Weak transcription	HUVEC	blood vessel
31	chr8:130870800-130882400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:130871000-130882600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:130871000-130884400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:130871200-130882400	Weak transcription	Aorta	Aorta
35	chr8:130871200-130887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:130871200-130896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:130871600-130882400	Weak transcription	Spleen	Spleen
38	chr8:130872600-130882400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:130872600-130882400	Weak transcription	Brain Substantia Nigra	brain
40	chr8:130872600-130882400	Weak transcription	Left Ventricle	heart
41	chr8:130873600-130895600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:130873800-130887600	Weak transcription	Fetal Stomach	stomach
43	chr8:130874000-130899000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:130874200-130882400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:130874200-130882400	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:130874200-130886800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:130874400-130882200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:130874400-130882400	Weak transcription	Brain Anterior Caudate	brain
49	chr8:130874400-130884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:130874600-130882200	Weak transcription	HSMM	muscle

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