Variant report

Variant	rs57649249
Chromosome Location	chr15:58521618-58521619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:58518907..58522119-chr15:58624457..58627687,4	K562	blood:
2	chr15:58520576..58522119-chr15:58624457..58626342,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11632498	0.81[ASN][1000 genomes]
rs11637181	0.81[ASN][1000 genomes]
rs11637278	0.81[ASN][1000 genomes]
rs12908890	0.80[ASN][1000 genomes]
rs16939955	0.86[ASN][1000 genomes]
rs16939960	0.81[ASN][1000 genomes]
rs16939962	0.81[ASN][1000 genomes]
rs2414554	0.81[ASN][1000 genomes]
rs28510553	0.88[ASN][1000 genomes]
rs28578652	0.88[ASN][1000 genomes]
rs28663995	0.87[ASN][1000 genomes]
rs34717982	0.88[ASN][1000 genomes]
rs4402495	0.82[ASN][1000 genomes]
rs67026867	0.81[ASN][1000 genomes]
rs67047612	0.85[ASN][1000 genomes]
rs67215667	0.81[ASN][1000 genomes]
rs67690745	0.80[ASN][1000 genomes]
rs7164935	0.87[ASN][1000 genomes]
rs7172755	0.88[ASN][1000 genomes]
rs7181221	0.88[ASN][1000 genomes]
rs755079	0.82[ASN][1000 genomes]
rs8025888	0.87[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	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58519200-58522600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:58520200-58522200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:58520200-58522200	Enhancers	NHDF-Ad	bronchial
4	chr15:58520200-58522400	Enhancers	Primary T cells from cord blood	blood
5	chr15:58520200-58522600	Enhancers	HSMMtube	muscle
6	chr15:58520200-58523400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:58520200-58523400	Enhancers	NHEK	skin
8	chr15:58520400-58521800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:58520400-58522000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:58520400-58522000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:58520400-58522000	Enhancers	Right Ventricle	heart
12	chr15:58520400-58522200	Enhancers	Brain Hippocampus Middle	brain
13	chr15:58520400-58522200	Enhancers	Fetal Thymus	thymus
14	chr15:58520400-58522400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:58520400-58522400	Enhancers	Fetal Muscle Leg	muscle
16	chr15:58520400-58522400	Enhancers	HSMM	muscle
17	chr15:58520400-58522600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:58520400-58522600	Enhancers	NHLF	lung
19	chr15:58520400-58522800	Enhancers	Psoas Muscle	Psoas
20	chr15:58520400-58523200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:58520400-58523200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:58520400-58523200	Enhancers	Left Ventricle	heart
23	chr15:58520400-58523200	Enhancers	Right Atrium	heart
24	chr15:58520400-58523600	Enhancers	HMEC	breast
25	chr15:58520600-58522000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr15:58520600-58522000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr15:58520600-58522000	Enhancers	Placenta	Placenta
28	chr15:58520600-58522000	Enhancers	Osteobl	bone
29	chr15:58520600-58522200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:58520600-58522200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr15:58520600-58522200	Enhancers	Brain Angular Gyrus	brain
32	chr15:58520600-58522200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr15:58520600-58522400	Enhancers	HepG2	liver
34	chr15:58520600-58522600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:58520600-58523200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:58520600-58523400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:58520800-58521800	Enhancers	Adipose Nuclei	Adipose
38	chr15:58520800-58522000	Enhancers	Fetal Stomach	stomach
39	chr15:58520800-58522000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:58520800-58522200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:58520800-58522400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr15:58521000-58522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:58521000-58522000	Enhancers	Fetal Intestine Large	intestine
44	chr15:58521000-58522200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:58521000-58522400	Enhancers	Duodenum Mucosa	Duodenum
46	chr15:58521200-58521800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:58521200-58521800	Active TSS	Aorta	Aorta
48	chr15:58521200-58522000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr15:58521200-58522000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:58521200-58522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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