Variant report

Variant	rs1280387
Chromosome Location	chr15:57795502-57795503
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	chr15:57438651..57439251-chr15:57795273..57796153,2	K562	blood:
2	chr15:57632179..57633491-chr15:57795201..57795781,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10220805	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs10518923	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10775165	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10851614	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs10851615	0.86[CEU][hapmap];0.82[AMR][1000 genomes]
rs10851616	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs10851617	0.88[EUR][1000 genomes]
rs11071323	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11071324	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11071325	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs11071326	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11630712	0.87[EUR][1000 genomes]
rs11630713	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11630740	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs11631943	0.90[EUR][1000 genomes]
rs11634739	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11637220	0.89[EUR][1000 genomes]
rs11637265	0.90[EUR][1000 genomes]
rs12323972	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs12437888	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs12438901	0.89[EUR][1000 genomes]
rs12439099	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs12439126	0.87[EUR][1000 genomes]
rs12440928	0.86[EUR][1000 genomes]
rs12441608	0.81[EUR][1000 genomes]
rs12442969	0.89[EUR][1000 genomes]
rs12592077	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs12593650	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12593685	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12593721	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs12594455	0.87[EUR][1000 genomes]
rs12594504	0.87[EUR][1000 genomes]
rs12595135	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs12595169	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs16977531	0.90[EUR][1000 genomes]
rs16977534	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs16977558	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs16977560	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs16977561	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1980048	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1994888	0.86[CEU][hapmap]
rs1994889	0.86[CEU][hapmap]
rs2087981	0.89[EUR][1000 genomes]
rs2131740	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2172613	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2414510	0.83[EUR][1000 genomes]
rs2942043	0.84[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4545749	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs58161678	0.89[EUR][1000 genomes]
rs58253526	0.89[EUR][1000 genomes]
rs7164486	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7496403	0.87[EUR][1000 genomes]
rs932028	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs932029	0.85[EUR][1000 genomes]
rs955206	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs966693	0.81[EUR][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045620	chr15:57680733-57804237	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2763103	chr15:57781577-57799765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57778200-57798400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr15:57779000-57797600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:57779000-57798200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:57779400-57800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:57787200-57802000	Weak transcription	Aorta	Aorta
6	chr15:57788200-57797600	Enhancers	Fetal Heart	heart
7	chr15:57789400-57796200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:57789800-57801600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:57790000-57796800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:57790000-57797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
12	chr15:57790200-57797600	Weak transcription	Brain Anterior Caudate	brain
13	chr15:57790200-57799000	Enhancers	HepG2	liver
14	chr15:57790200-57801400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:57790400-57795600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:57791400-57796400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:57792000-57799000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:57792000-57799000	Enhancers	Pancreas	Pancrea
19	chr15:57792200-57799000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:57793000-57795600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:57793000-57797000	Enhancers	Right Ventricle	heart
22	chr15:57793000-57799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:57793200-57799400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:57793200-57800200	Enhancers	Stomach Mucosa	stomach
25	chr15:57793400-57796600	Enhancers	Liver	Liver
26	chr15:57793400-57798000	Enhancers	Esophagus	oesophagus
27	chr15:57793400-57803200	Enhancers	Placenta	Placenta
28	chr15:57793600-57797000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:57793600-57801000	Weak transcription	HSMMtube	muscle
30	chr15:57793600-57803200	Enhancers	Fetal Intestine Small	intestine
31	chr15:57793800-57795800	Enhancers	Left Ventricle	heart
32	chr15:57793800-57797400	Weak transcription	Osteobl	bone
33	chr15:57793800-57802000	Enhancers	Fetal Intestine Large	intestine
34	chr15:57794000-57795600	Weak transcription	Lung	lung
35	chr15:57794000-57795800	Enhancers	A549	lung
36	chr15:57794200-57797200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:57794400-57795600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:57794400-57796800	Weak transcription	NH-A	brain
40	chr15:57794600-57795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:57794600-57795800	Weak transcription	Ovary	ovary
42	chr15:57794600-57796000	Weak transcription	Fetal Stomach	stomach
43	chr15:57794600-57796400	Weak transcription	Fetal Lung	lung
44	chr15:57794600-57797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr15:57794800-57795600	Weak transcription	NHDF-Ad	bronchial
46	chr15:57794800-57797800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:57794800-57798200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:57795000-57795800	Enhancers	Right Atrium	heart
49	chr15:57795000-57795800	Enhancers	NHEK	skin
50	chr15:57795000-57796200	Weak transcription	Fetal Kidney	kidney

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