Variant report

Variant	rs2868435
Chromosome Location	chr2:56142998-56142999
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	chr2:56122074..56124706-chr2:56141826..56144202,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10192203	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11894650	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2033316	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2903838	1.00[CHB][hapmap]
rs3762514	0.83[ASN][1000 genomes]
rs3762515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4233964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs960993	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3349882	chr2:56142778-56143224	Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56116400-56144400	Weak transcription	Lung	lung
2	chr2:56129000-56144200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:56129000-56144400	Weak transcription	HSMMtube	muscle
4	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
5	chr2:56129400-56143000	Weak transcription	NHLF	lung
6	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:56135200-56143600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:56135200-56146600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:56135600-56143000	Weak transcription	NHEK	skin
10	chr2:56136600-56145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:56137400-56149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:56138400-56144200	Weak transcription	NH-A	brain
13	chr2:56138800-56146400	Weak transcription	A549	lung
14	chr2:56138800-56149600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
15	chr2:56139000-56143600	Weak transcription	HMEC	breast
16	chr2:56140400-56143600	Weak transcription	Ovary	ovary
17	chr2:56140400-56143600	Weak transcription	Right Atrium	heart
18	chr2:56140800-56143600	Weak transcription	HSMM	muscle
19	chr2:56141600-56143800	Weak transcription	Aorta	Aorta
20	chr2:56141800-56146200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:56142000-56143000	Genic enhancers	Osteobl	bone
22	chr2:56142000-56143200	Enhancers	NHDF-Ad	bronchial
23	chr2:56142000-56143600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:56142000-56143800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:56142000-56143800	Weak transcription	Fetal Stomach	stomach
26	chr2:56142200-56143000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:56142200-56149800	Weak transcription	Gastric	stomach
28	chr2:56142400-56143200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:56142400-56143200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:56142400-56143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:56142400-56149400	Weak transcription	Right Ventricle	heart
32	chr2:56142600-56149200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:56142800-56143200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:56142800-56143600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:56142800-56146000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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