Variant report

Variant	rs11899010
Chromosome Location	chr2:33596090-33596091
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10198960	0.80[CHB][hapmap]
rs10495787	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11885449	0.84[JPT][hapmap]
rs13009128	0.94[ASN][1000 genomes]
rs13385066	0.84[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs13424241	0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs17012911	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17012917	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs17584334	1.00[CEU][hapmap]
rs17645101	1.00[CEU][hapmap]
rs2015189	0.84[JPT][hapmap]
rs2290426	0.81[CHB][hapmap]
rs3769549	0.81[CHB][hapmap]
rs3820909	0.93[ASN][1000 genomes]
rs41320744	1.00[CEU][hapmap]
rs58804388	0.82[ASN][1000 genomes]
rs59136259	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59877056	0.98[ASN][1000 genomes]
rs60514603	0.97[ASN][1000 genomes]
rs6711211	0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs6719824	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs72861407	0.84[EUR][1000 genomes]
rs72861439	0.98[EUR][1000 genomes]
rs7566302	0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]

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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 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	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
3	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
5	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:33588400-33624400	Weak transcription	Gastric	stomach
8	chr2:33589200-33598000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:33589600-33597600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:33590600-33615800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:33590600-33624800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:33590800-33612600	Weak transcription	Ovary	ovary
14	chr2:33591400-33616000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:33591800-33601800	Weak transcription	NHLF	lung
16	chr2:33592000-33596200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:33592000-33597000	Strong transcription	Osteobl	bone
18	chr2:33592000-33600200	Weak transcription	Psoas Muscle	Psoas
19	chr2:33592000-33624800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:33592400-33601600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:33593800-33598400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:33594400-33596400	Strong transcription	Liver	Liver
23	chr2:33594400-33596600	Strong transcription	NH-A	brain
24	chr2:33594400-33597200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:33594600-33596200	Strong transcription	Aorta	Aorta
26	chr2:33594800-33597000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:33594800-33597400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr2:33595000-33596200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr2:33595000-33597000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:33595200-33601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:33595200-33609200	Weak transcription	Left Ventricle	heart
32	chr2:33595400-33597600	Enhancers	Brain Hippocampus Middle	brain
33	chr2:33595600-33597000	Genic enhancers	Fetal Heart	heart
34	chr2:33595600-33597400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:33595600-33597400	Enhancers	NHDF-Ad	bronchial
36	chr2:33595800-33596200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:33595800-33596200	Enhancers	Fetal Lung	lung
38	chr2:33595800-33596400	Enhancers	Brain Anterior Caudate	brain
39	chr2:33595800-33597400	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:33595800-33598000	Enhancers	Brain Substantia Nigra	brain
41	chr2:33596000-33596400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:33596000-33596400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:33596000-33596400	Enhancers	Right Atrium	heart
44	chr2:33596000-33596400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:33596000-33597000	Strong transcription	Fetal Muscle Leg	muscle

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