Variant report

Variant	rs4972280
Chromosome Location	chr2:149264043-149264044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13008472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010376	0.87[ASN][1000 genomes]
rs13014173	0.87[ASN][1000 genomes]
rs13033892	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17357457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979038	0.87[ASN][1000 genomes]
rs2197581	0.87[ASN][1000 genomes]
rs4972367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6751753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71350081	0.87[ASN][1000 genomes]
rs71413618	0.87[ASN][1000 genomes]
rs71413619	0.87[ASN][1000 genomes]
rs71413620	0.86[ASN][1000 genomes]
rs765056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs940460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149245400-149266800	Weak transcription	Thymus	Thymus
2	chr2:149247000-149266400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:149247200-149266200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
5	chr2:149247800-149266400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:149247800-149266800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:149247800-149266800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:149248000-149266800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:149248200-149266800	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:149248400-149266600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:149248400-149266600	Weak transcription	Fetal Brain Male	brain
12	chr2:149248400-149266800	Weak transcription	Fetal Brain Female	brain
13	chr2:149248600-149266400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:149248600-149266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:149248600-149266800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:149248600-149266800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:149248600-149266800	Weak transcription	HSMM	muscle
18	chr2:149248600-149266800	Weak transcription	HSMMtube	muscle
19	chr2:149248600-149267000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:149248800-149265600	Weak transcription	Fetal Lung	lung
21	chr2:149248800-149266800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:149248800-149266800	Weak transcription	Fetal Intestine Large	intestine
23	chr2:149248800-149266800	Weak transcription	Fetal Stomach	stomach
24	chr2:149248800-149266800	Weak transcription	Left Ventricle	heart
25	chr2:149248800-149267000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:149248800-149269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:149248800-149276800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:149248800-149284600	Weak transcription	Lung	lung
29	chr2:149249200-149266800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:149251200-149266600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:149251200-149266800	Weak transcription	NH-A	brain
32	chr2:149252200-149266800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:149252800-149266800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:149254000-149266400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:149254200-149266800	Weak transcription	Primary B cells from cord blood	blood
36	chr2:149259400-149265600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:149259400-149266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:149259400-149266800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:149259400-149266800	Weak transcription	Pancreas	Pancrea
40	chr2:149259400-149267000	Weak transcription	Gastric	stomach
41	chr2:149259600-149265800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:149259600-149267000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:149259800-149265600	Weak transcription	HepG2	liver
44	chr2:149260000-149266800	Weak transcription	Ovary	ovary
45	chr2:149260200-149266800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:149261400-149266800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:149261600-149266600	Weak transcription	Fetal Heart	heart
48	chr2:149261600-149266800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:149261600-149279200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:149261800-149265800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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