Variant report

Variant	rs2414428
Chromosome Location	chr15:56007695-56007696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56002613..56005532-chr15:56007469..56010222,2	K562	blood:
2	chr15:56006581..56008616-chr15:56009366..56011272,2	MCF-7	breast:
3	chr15:56002955..56005054-chr15:56005105..56008036,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16976479	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56190205	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56220110	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56233400	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73408312	0.83[EUR][1000 genomes]
rs73408332	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73423329	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8041506	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs999303	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55996200-56015000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:55999800-56028000	Weak transcription	Fetal Kidney	kidney
3	chr15:56002200-56014600	Weak transcription	A549	lung
4	chr15:56003400-56011400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:56003800-56008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:56004000-56007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:56004000-56008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:56004000-56012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:56004400-56011000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:56005800-56009800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr15:56006600-56007800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:56006800-56008000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr15:56007000-56008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:56007000-56009200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr15:56007000-56009600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:56007200-56008800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr15:56007400-56008000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr15:56007400-56008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:56007400-56008000	Enhancers	Fetal Lung	lung
20	chr15:56007400-56008000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr15:56007400-56008400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr15:56007400-56008400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:56007400-56009000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr15:56007600-56007800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr15:56007600-56008000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr15:56007600-56008000	Enhancers	Hela-S3	cervix
27	chr15:56007600-56008400	Enhancers	Fetal Intestine Large	intestine
28	chr15:56007600-56008400	Enhancers	HepG2	liver
29	chr15:56007600-56008600	Enhancers	Fetal Intestine Small	intestine

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