Variant report

Variant	rs68172038
Chromosome Location	chr2:150990120-150990121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:150988562..150990307-chr2:151341817..151344325,3	MCF-7	breast:
2	chr2:150981948..150984533-chr2:150988728..150991598,2	MCF-7	breast:
3	chr2:150984090..150985971-chr2:150989879..150991996,2	MCF-7	breast:
4	chr2:150988564..150990849-chr2:151022615..151025266,3	MCF-7	breast:
5	chr2:150980657..150983309-chr2:150988765..150990681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10497043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690111	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349216	0.85[ASN][1000 genomes]
rs66854919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67082067	0.85[ASN][1000 genomes]
rs67402538	0.85[ASN][1000 genomes]
rs68028498	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869702	0.85[ASN][1000 genomes]
rs72871227	0.85[ASN][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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv979344	chr2:150989247-150991969	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150977800-150990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:150983600-150990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:150983600-150990400	Weak transcription	Fetal Kidney	kidney
4	chr2:150984200-150990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:150984600-150990800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:150984800-150990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:150984800-150990200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:150984800-150990800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:150984800-150997800	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:150986400-150990200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:150987000-150993000	Enhancers	Fetal Lung	lung
12	chr2:150988400-150991400	Enhancers	HUVEC	blood vessel
13	chr2:150989800-150991000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:150989800-150991200	Enhancers	HMEC	breast
15	chr2:150989800-150991600	Enhancers	NHEK	skin
16	chr2:150989800-150991800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:150989800-150992400	Flanking Active TSS	A549	lung
18	chr2:150989800-150993800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:150989800-150994800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:150990000-150990200	Flanking Active TSS	NH-A	brain
21	chr2:150990000-150990800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:150990000-150991000	Enhancers	Hela-S3	cervix
23	chr2:150990000-150991000	Enhancers	HSMM	muscle
24	chr2:150990000-150991200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:150990000-150991200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:150990000-150991200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:150990000-150991400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:150990000-150991400	Enhancers	NHLF	lung
29	chr2:150990000-150991800	Enhancers	Osteobl	bone
30	chr2:150990000-150993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:150990000-150993800	Enhancers	NHDF-Ad	bronchial
32	chr2:150990000-150995800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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