Variant report

Variant	rs2414431
Chromosome Location	chr15:56030846-56030847
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56013890..56016353-chr15:56030511..56032311,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEDD4-2	chr15:56030403-56030857	NONHSAT044007

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10851591	0.87[ASN][1000 genomes]
rs11630141	0.87[ASN][1000 genomes]
rs11854213	0.85[CHB][hapmap];0.81[CHD][hapmap]
rs12373006	0.81[CHB][hapmap]
rs12442771	0.95[CHB][hapmap];0.85[CHD][hapmap];0.87[ASN][1000 genomes]
rs12591246	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs16976428	1.00[CEU][hapmap];0.82[MEX][hapmap]
rs16976472	0.82[JPT][hapmap]
rs1814329	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2008336	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2118781	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs2414424	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2414426	0.82[CHB][hapmap]
rs2414427	0.82[CHB][hapmap]
rs2414430	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28485308	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28575567	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4377101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4774802	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4774803	0.87[ASN][1000 genomes]
rs57782071	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59820715	0.87[EUR][1000 genomes]
rs62043907	0.84[ASN][1000 genomes]
rs62043908	0.88[ASN][1000 genomes]
rs6493807	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493809	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493814	0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs7161967	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162071	0.85[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7162371	0.87[ASN][1000 genomes]
rs7162879	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7163167	0.90[CHB][hapmap];0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs7172903	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7181212	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7182733	0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs7359255	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs8023911	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8025445	0.85[CHB][hapmap]
rs8030795	0.89[ASN][1000 genomes]
rs8034414	0.88[ASN][1000 genomes]
rs8037136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8038074	0.84[ASN][1000 genomes]
rs8042029	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3366380	chr15:56003224-56141650	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv1052495	chr15:56013617-56102164	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56017800-56033400	Weak transcription	Ovary	ovary
2	chr15:56025000-56033600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:56027800-56033000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:56028400-56031600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:56028600-56031000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:56028800-56031800	Enhancers	HUVEC	blood vessel
7	chr15:56028800-56033600	Weak transcription	HSMM	muscle
8	chr15:56029000-56031000	Enhancers	Hela-S3	cervix
9	chr15:56029200-56031000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:56029600-56031000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr15:56029600-56031200	Enhancers	Fetal Stomach	stomach
12	chr15:56029800-56032200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:56029800-56033200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:56030000-56031200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:56030000-56031600	Weak transcription	HepG2	liver
16	chr15:56030000-56032600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:56030000-56032600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:56030000-56032600	Weak transcription	A549	lung
19	chr15:56030000-56033400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:56030000-56033600	Weak transcription	Placenta	Placenta
21	chr15:56030200-56032600	Weak transcription	Fetal Intestine Large	intestine
22	chr15:56030200-56032800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:56030200-56032800	Weak transcription	Fetal Lung	lung
24	chr15:56030400-56034600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:56030600-56031400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:56030600-56033400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:56030600-56034600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:56030800-56031000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:56030800-56031200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:56030800-56031200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:56030800-56031200	Enhancers	Psoas Muscle	Psoas
32	chr15:56030800-56031600	Weak transcription	Fetal Kidney	kidney

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