Variant report

Variant	rs59817257
Chromosome Location	chr2:134260359-134260360
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134253868..134259578-chr2:134259579..134266138,12	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10928453	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1432284	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56949683	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59333215	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6736284	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6755702	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][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:39 , 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	chr2:134248000-134262000	Weak transcription	NHLF	lung
4	chr2:134251600-134261400	Weak transcription	Right Atrium	heart
5	chr2:134255400-134261800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:134255400-134261800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:134255400-134262000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:134255400-134262200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:134255600-134260400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:134255800-134260400	Weak transcription	Liver	Liver
11	chr2:134255800-134260600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:134256600-134261800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:134256600-134262000	Weak transcription	Fetal Lung	lung
14	chr2:134256600-134262200	Weak transcription	Fetal Stomach	stomach
15	chr2:134256600-134262400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:134256800-134261200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:134256800-134262200	Weak transcription	Fetal Brain Male	brain
18	chr2:134257000-134260400	Weak transcription	Small Intestine	intestine
19	chr2:134257000-134261400	Weak transcription	Fetal Brain Female	brain
20	chr2:134257000-134262000	Weak transcription	Fetal Kidney	kidney
21	chr2:134257200-134260400	Weak transcription	Stomach Mucosa	stomach
22	chr2:134257200-134262000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:134257200-134262400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:134257400-134262400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:134257600-134260400	Weak transcription	Fetal Intestine Large	intestine
26	chr2:134258000-134261400	Weak transcription	NHDF-Ad	bronchial
27	chr2:134258200-134261400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:134258200-134261400	Weak transcription	HMEC	breast
29	chr2:134258200-134261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:134258800-134261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:134258800-134262000	Weak transcription	NHEK	skin
32	chr2:134259000-134261600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:134259000-134265600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:134259600-134261400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:134259800-134260600	Enhancers	Left Ventricle	heart
36	chr2:134259800-134261400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:134260000-134260400	Weak transcription	Right Ventricle	heart
38	chr2:134260200-134262600	Enhancers	Fetal Intestine Small	intestine
39	chr2:134260200-134263800	Enhancers	Brain Hippocampus Middle	brain

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