Variant report

Variant	rs28617484
Chromosome Location	chr2:151443503-151443504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151384979..151386756-chr2:151443074..151444971,2	MCF-7	breast:
2	chr2:151431784..151434680-chr2:151442066..151443954,2	K562	blood:
3	chr2:151424044..151425573-chr2:151443344..151445218,2	MCF-7	breast:
4	chr2:151340454..151344785-chr2:151441787..151446724,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10432416	1.00[AFR][1000 genomes]
rs12052383	0.92[ASN][1000 genomes]
rs13409790	1.00[AFR][1000 genomes]
rs13416697	1.00[AFR][1000 genomes]
rs13421850	1.00[AFR][1000 genomes]
rs13428302	1.00[AFR][1000 genomes]
rs13430342	1.00[AFR][1000 genomes]
rs16828368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16828372	0.95[ASN][1000 genomes]
rs2341059	0.81[ASN][1000 genomes]
rs4334493	0.81[ASN][1000 genomes]
rs56767144	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:151427400-151444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:151440800-151445400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:151441200-151443800	Enhancers	NHDF-Ad	bronchial
4	chr2:151441400-151445800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:151441600-151443800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:151441600-151444000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:151441600-151445000	Enhancers	Osteobl	bone
8	chr2:151441800-151445400	Enhancers	NHLF	lung
9	chr2:151442000-151443800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:151442000-151445200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:151442200-151444600	Enhancers	NH-A	brain
12	chr2:151442400-151444600	Enhancers	HMEC	breast
13	chr2:151442400-151445200	Enhancers	HSMM	muscle
14	chr2:151442400-151445200	Enhancers	HSMMtube	muscle
15	chr2:151442600-151444400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:151442600-151445400	Enhancers	A549	lung
17	chr2:151442600-151446600	Enhancers	Fetal Brain Male	brain
18	chr2:151442800-151444400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:151442800-151444600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:151442800-151445200	Enhancers	Fetal Brain Female	brain
21	chr2:151443000-151445200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:151443200-151443600	Enhancers	HUVEC	blood vessel
23	chr2:151443200-151444200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:151443200-151444600	Enhancers	Liver	Liver
25	chr2:151443200-151444600	Enhancers	NHEK	skin
26	chr2:151443200-151445000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:151443400-151443600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:151443400-151443600	Enhancers	Fetal Kidney	kidney
29	chr2:151443400-151443800	Enhancers	Fetal Muscle Leg	muscle
30	chr2:151443400-151444400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:151443400-151444600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:151443400-151444600	Enhancers	Ovary	ovary
33	chr2:151443400-151445400	Enhancers	Adipose Nuclei	Adipose
34	chr2:151443400-151445400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:151443400-151446400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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