Variant report

Variant	rs10928453
Chromosome Location	chr2:134262118-134262119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134250274..134251222-chr2:134262111..134262982,5	MCF-7	breast:
2	chr2:134250215..134251119-chr2:134262111..134263140,7	MCF-7	breast:
3	chr2:134253868..134259578-chr2:134259579..134266138,12	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1432284	0.92[ASW][hapmap];0.83[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56949683	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59333215	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59817257	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6728130	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs6736284	1.00[ASW][hapmap];0.83[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6755702	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2830192	chr2:134259612-134311713	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134240000-134262400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134246400-134262400	Weak transcription	Gastric	stomach
3	chr2:134255400-134262200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:134256600-134262200	Weak transcription	Fetal Stomach	stomach
5	chr2:134256600-134262400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:134256800-134262200	Weak transcription	Fetal Brain Male	brain
7	chr2:134257200-134262400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:134257400-134262400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:134259000-134265600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:134260200-134262600	Enhancers	Fetal Intestine Small	intestine
11	chr2:134260200-134263800	Enhancers	Brain Hippocampus Middle	brain
12	chr2:134260400-134262400	Enhancers	Fetal Intestine Large	intestine
13	chr2:134260400-134262800	Enhancers	Liver	Liver
14	chr2:134260400-134265200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:134260400-134265400	Enhancers	Fetal Heart	heart
16	chr2:134260600-134262200	Weak transcription	Pancreas	Pancrea
17	chr2:134260600-134264000	Enhancers	Brain Substantia Nigra	brain
18	chr2:134260800-134262200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:134261400-134262400	Weak transcription	Stomach Mucosa	stomach
20	chr2:134261400-134262800	Enhancers	Right Atrium	heart
21	chr2:134261400-134262800	Enhancers	Right Ventricle	heart
22	chr2:134261400-134262800	Enhancers	NHDF-Ad	bronchial
23	chr2:134261400-134263200	Enhancers	Fetal Brain Female	brain
24	chr2:134261400-134263400	Enhancers	Fetal Muscle Leg	muscle
25	chr2:134261400-134263400	Enhancers	Left Ventricle	heart
26	chr2:134261400-134263600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:134261400-134263800	Enhancers	HMEC	breast
28	chr2:134261400-134264000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:134261400-134265000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:134261400-134265800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:134261400-134265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:134261600-134263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:134261800-134262800	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:134261800-134263200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:134261800-134263400	Enhancers	Brain Anterior Caudate	brain
36	chr2:134261800-134263800	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:134262000-134262200	Enhancers	Fetal Kidney	kidney
38	chr2:134262000-134262600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:134262000-134262600	Enhancers	NHLF	lung
40	chr2:134262000-134262600	Enhancers	Osteobl	bone
41	chr2:134262000-134262800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:134262000-134263400	Enhancers	Fetal Lung	lung
43	chr2:134262000-134263400	Enhancers	NH-A	brain
44	chr2:134262000-134263800	Enhancers	Brain Angular Gyrus	brain
45	chr2:134262000-134263800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:134262000-134265000	Enhancers	NHEK	skin
47	chr2:134262000-134265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:134262000-134267600	Enhancers	Brain Germinal Matrix	brain

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