Variant report

Variant	rs57314452
Chromosome Location	chr15:40559976-40559977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40531197..40532800-chr15:40558917..40560764,2	K562	blood:
2	chr15:40556498..40560954-chr15:40561713..40567483,5	MCF-7	breast:
3	chr15:40559456..40563517-chr15:40563540..40567846,5	K562	blood:

Variant related genes	Relation type
ENSG00000137843	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55738516	1.00[EUR][1000 genomes]
rs56874918	1.00[EUR][1000 genomes]
rs57767693	1.00[EUR][1000 genomes]
rs57856697	1.00[EUR][1000 genomes]
rs7174686	1.00[EUR][1000 genomes]
rs7180770	1.00[EUR][1000 genomes]
rs73391360	1.00[EUR][1000 genomes]
rs73391377	1.00[EUR][1000 genomes]
rs74010790	1.00[EUR][1000 genomes]
rs74010791	1.00[EUR][1000 genomes]
rs74010792	1.00[EUR][1000 genomes]
rs74010793	1.00[EUR][1000 genomes]
rs74010794	1.00[EUR][1000 genomes]
rs74010796	1.00[EUR][1000 genomes]
rs8039484	1.00[EUR][1000 genomes]
rs8041180	1.00[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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv904096	chr15:40550149-40604777	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv904097	chr15:40555065-40595627	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv517541	chr15:40557268-40595627	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40546000-40571800	Weak transcription	Right Ventricle	heart
2	chr15:40546200-40568200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:40550000-40568000	Weak transcription	Spleen	Spleen
4	chr15:40550400-40566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:40551400-40561600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:40551400-40571000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:40551600-40560000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:40551600-40561800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:40553800-40570400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:40555000-40560600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:40555400-40566600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:40556200-40567400	Strong transcription	Fetal Intestine Small	intestine
13	chr15:40556200-40567600	Weak transcription	Colonic Mucosa	Colon
14	chr15:40557000-40568200	Weak transcription	Lung	lung
15	chr15:40557200-40562000	Strong transcription	Fetal Intestine Large	intestine
16	chr15:40557200-40571800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:40557400-40566800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:40557600-40560200	Enhancers	A549	lung
19	chr15:40557600-40561000	Strong transcription	Pancreas	Pancrea
20	chr15:40558200-40560200	Enhancers	K562	blood
21	chr15:40558200-40561000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:40558400-40560200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:40558400-40560400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:40558600-40560000	Enhancers	NH-A	brain
25	chr15:40558600-40560200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:40558600-40560400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr15:40558600-40560800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr15:40558800-40560000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:40558800-40560600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr15:40558800-40561000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:40559000-40564600	Weak transcription	Gastric	stomach
32	chr15:40559000-40570000	Weak transcription	Brain Anterior Caudate	brain
33	chr15:40559200-40560000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:40559200-40568000	Weak transcription	Brain Germinal Matrix	brain
35	chr15:40559200-40570000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:40559400-40560000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:40559400-40560200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:40559400-40560600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:40559400-40562800	Weak transcription	Placenta	Placenta
40	chr15:40559400-40570200	Weak transcription	Brain Angular Gyrus	brain
41	chr15:40559400-40571600	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:40559600-40560200	Enhancers	Hela-S3	cervix
43	chr15:40559600-40560600	Weak transcription	Osteobl	bone
44	chr15:40559600-40560800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:40559600-40561200	Strong transcription	Fetal Stomach	stomach
46	chr15:40559600-40561200	Strong transcription	HMEC	breast
47	chr15:40559600-40563000	Strong transcription	NHEK	skin
48	chr15:40559600-40564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:40559600-40567200	Weak transcription	Stomach Mucosa	stomach
50	chr15:40559600-40568800	Weak transcription	Fetal Brain Female	brain

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