Variant report

Variant	rs45614640
Chromosome Location	chr15:30078919-30078920
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30078003..30079594-chr15:30081264..30082897,2	K562	blood:
2	chr15:30075614..30079619-chr15:30112761..30115292,4	K562	blood:

Variant related genes	Relation type
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519665	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11855551	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17570926	0.87[EUR][1000 genomes]
rs17671556	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17671580	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2035326	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2291166	0.97[EUR][1000 genomes]
rs3784356	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45451205	0.87[EUR][1000 genomes]
rs45452501	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45459202	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45526331	0.97[EUR][1000 genomes]
rs45553932	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45590341	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719077	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
2	chr15:30052600-30089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:30058600-30092200	Weak transcription	Esophagus	oesophagus
4	chr15:30058600-30106000	Weak transcription	Gastric	stomach
5	chr15:30059800-30086200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:30062800-30096600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:30063800-30096000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:30063800-30096800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:30064000-30085600	Weak transcription	Fetal Stomach	stomach
10	chr15:30064000-30085800	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:30064400-30083800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:30065200-30103400	Weak transcription	Placenta	Placenta
13	chr15:30065600-30085400	Weak transcription	Fetal Intestine Large	intestine
14	chr15:30065600-30090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:30065600-30094400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:30065600-30094400	Weak transcription	Fetal Intestine Small	intestine
17	chr15:30065600-30108200	Weak transcription	Pancreas	Pancrea
18	chr15:30067400-30097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:30067600-30080600	Weak transcription	NHLF	lung
20	chr15:30071200-30080600	Weak transcription	Liver	Liver
21	chr15:30071200-30090000	Weak transcription	Adipose Nuclei	Adipose
22	chr15:30071800-30081400	Weak transcription	Fetal Heart	heart
23	chr15:30071800-30097600	Weak transcription	K562	blood
24	chr15:30072400-30085400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:30072800-30085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:30072800-30089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:30072800-30090000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:30072800-30091200	Weak transcription	Lung	lung
29	chr15:30072800-30092800	Weak transcription	Right Atrium	heart
30	chr15:30073000-30085600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:30074600-30082000	Weak transcription	Right Ventricle	heart
32	chr15:30074600-30085800	Weak transcription	Fetal Lung	lung
33	chr15:30074800-30085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:30075800-30081000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:30076000-30080600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:30076000-30080600	Weak transcription	NHEK	skin
37	chr15:30076200-30082000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:30076400-30081400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr15:30076800-30079000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:30077000-30080600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:30077000-30085200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:30077400-30080600	Weak transcription	NH-A	brain
43	chr15:30077400-30081800	Weak transcription	Brain Substantia Nigra	brain
44	chr15:30077600-30084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:30077600-30084200	Weak transcription	HSMMtube	muscle
46	chr15:30077600-30085600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:30077600-30085600	Weak transcription	Fetal Kidney	kidney
48	chr15:30077600-30092400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:30077800-30079800	Strong transcription	HSMM	muscle
50	chr15:30077800-30080000	Weak transcription	Osteobl	bone

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