Variant report

Variant	rs2057981
Chromosome Location	chr7:108058574-108058575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108056974..108058876-chr7:108094408..108096175,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1016040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236888	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12531222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1558036	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1558038	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1859766	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1859776	0.88[CEU][hapmap];1.00[MEX][hapmap]
rs2057982	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2214912	0.80[AMR][1000 genomes]
rs2300047	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4591957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942769	0.89[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108054200-108058600	Enhancers	Brain Anterior Caudate	brain
2	chr7:108054200-108058800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:108054200-108059200	Enhancers	HUVEC	blood vessel
4	chr7:108054800-108061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:108055000-108062600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:108055400-108058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:108055400-108060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:108056600-108062400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:108056800-108058600	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:108056800-108060000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:108056800-108071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:108057000-108059400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:108057000-108059800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:108057000-108062400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:108057200-108060000	Weak transcription	Osteobl	bone
16	chr7:108057200-108067200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:108057400-108058600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:108057400-108058600	Enhancers	HSMMtube	muscle
19	chr7:108057400-108058800	Weak transcription	K562	blood
20	chr7:108057400-108059400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:108057400-108059400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:108057400-108061000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:108057600-108058600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:108057600-108059400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:108057600-108059400	Weak transcription	Fetal Brain Female	brain
26	chr7:108057600-108060600	Weak transcription	Brain Angular Gyrus	brain
27	chr7:108057600-108065800	Weak transcription	NHEK	skin
28	chr7:108057600-108066000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:108057600-108067000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:108057600-108069000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:108057800-108058800	Weak transcription	Fetal Brain Male	brain
32	chr7:108057800-108059000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:108057800-108059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:108057800-108059800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:108057800-108064200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:108058000-108060600	Weak transcription	HSMM	muscle
37	chr7:108058400-108058800	Enhancers	Pancreas	Pancrea
38	chr7:108058400-108059000	Genic enhancers	A549	lung
39	chr7:108058400-108059800	Enhancers	NH-A	brain
40	chr7:108058400-108061600	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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