Variant report

Variant	rs1008125
Chromosome Location	chr2:134256978-134256979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134245342..134247871-chr2:134256827..134259265,2	MCF-7	breast:
2	chr2:134253868..134259578-chr2:134259579..134266138,12	MCF-7	breast:
3	chr2:134251643..134253707-chr2:134255624..134257629,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1017368	0.91[CEU][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11695605	0.96[CEU][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11887480	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11896713	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865585	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1897429	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2163653	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2163654	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs2320935	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874399	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs3910163	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4954052	0.96[EUR][1000 genomes]
rs4954059	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs7559239	0.91[CEU][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7595258	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:38 , 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	chr2:134250200-134257200	Enhancers	Fetal Intestine Small	intestine
5	chr2:134250800-134257800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:134251600-134261400	Weak transcription	Right Atrium	heart
7	chr2:134252200-134257000	Enhancers	Fetal Kidney	kidney
8	chr2:134252600-134257000	Enhancers	Fetal Brain Female	brain
9	chr2:134252600-134257600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:134254200-134257600	Enhancers	Fetal Intestine Large	intestine
11	chr2:134254800-134257400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:134255000-134258200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:134255200-134257000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:134255400-134257000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:134255400-134257200	Enhancers	Brain Germinal Matrix	brain
16	chr2:134255400-134259800	Weak transcription	Left Ventricle	heart
17	chr2:134255400-134261800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:134255400-134261800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:134255400-134262000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:134255400-134262200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:134255600-134260400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:134255800-134258600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:134255800-134260200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:134255800-134260400	Weak transcription	Liver	Liver
25	chr2:134255800-134260600	Weak transcription	Brain Substantia Nigra	brain
26	chr2:134256000-134257400	Enhancers	NHDF-Ad	bronchial
27	chr2:134256200-134257200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:134256400-134257000	Enhancers	Small Intestine	intestine
29	chr2:134256400-134257200	Enhancers	Stomach Mucosa	stomach
30	chr2:134256600-134257200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:134256600-134258400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:134256600-134258800	Enhancers	NHEK	skin
33	chr2:134256600-134261800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:134256600-134262000	Weak transcription	Fetal Lung	lung
35	chr2:134256600-134262200	Weak transcription	Fetal Stomach	stomach
36	chr2:134256600-134262400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:134256800-134261200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:134256800-134262200	Weak transcription	Fetal Brain Male	brain

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