Variant report

Variant	rs45610140
Chromosome Location	chr15:30052291-30052292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:30051900..30054307-chr15:30111477..30113324,2	K562	blood:
2	chr15:30047903..30050810-chr15:30051700..30053369,2	K562	blood:
3	chr15:30052065..30053802-chr15:30055280..30057234,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16955763	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17750802	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2306437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34399157	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809503	1.00[EUR][1000 genomes]
rs41411045	1.00[AMR][1000 genomes]
rs41412345	1.00[AMR][1000 genomes]
rs45451195	1.00[AMR][1000 genomes]
rs45453293	0.82[ASN][1000 genomes]
rs45475400	1.00[AMR][1000 genomes]
rs45476796	1.00[AMR][1000 genomes]
rs45496092	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45505896	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45560035	1.00[EUR][1000 genomes]
rs45562339	1.00[AMR][1000 genomes]
rs45589632	1.00[AMR][1000 genomes]
rs74008551	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs747096	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
2	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
3	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
4	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
5	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
6	chr15:30029800-30056000	Weak transcription	K562	blood
7	chr15:30030400-30060800	Weak transcription	Hela-S3	cervix
8	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:30034400-30057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:30034800-30052800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:30035000-30053200	Weak transcription	Psoas Muscle	Psoas
12	chr15:30042000-30057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:30042000-30061800	Weak transcription	Pancreas	Pancrea
14	chr15:30042200-30053200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:30042200-30057000	Weak transcription	Lung	lung
16	chr15:30042200-30057800	Weak transcription	Right Ventricle	heart
17	chr15:30042600-30052600	Weak transcription	Fetal Intestine Small	intestine
18	chr15:30042600-30052600	Weak transcription	Fetal Stomach	stomach
19	chr15:30043600-30053400	Weak transcription	NHDF-Ad	bronchial
20	chr15:30044600-30064000	Strong transcription	Fetal Intestine Large	intestine
21	chr15:30046400-30064400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:30047000-30065000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:30047000-30066000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:30047400-30056200	Weak transcription	NHLF	lung
25	chr15:30049200-30052400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:30049400-30057000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:30049400-30066400	Weak transcription	Small Intestine	intestine
28	chr15:30049600-30061600	Weak transcription	Fetal Brain Male	brain
29	chr15:30050000-30064000	Strong transcription	Placenta	Placenta
30	chr15:30050200-30054600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:30050200-30059400	Weak transcription	Right Atrium	heart
32	chr15:30050200-30070600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:30050400-30052400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
34	chr15:30050400-30052800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:30050400-30052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:30050400-30064400	Strong transcription	HSMM	muscle
37	chr15:30050600-30053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:30050600-30053800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:30050600-30063400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:30050800-30056200	Strong transcription	A549	lung
41	chr15:30050800-30057600	Strong transcription	NH-A	brain
42	chr15:30050800-30057800	Strong transcription	Left Ventricle	heart
43	chr15:30050800-30058000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:30051000-30058400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr15:30051200-30052400	Strong transcription	Fetal Kidney	kidney
46	chr15:30051200-30053200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr15:30051400-30052600	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr15:30051400-30053600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:30051400-30053800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:30051400-30054000	Strong transcription	Liver	Liver

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