Variant report

Variant	rs73482318
Chromosome Location	chr15:99704704-99704705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:99697848..99700499-chr15:99704472..99706624,2	K562	blood:
2	chr15:99649446..99651244-chr15:99703848..99705856,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs55962871	1.00[AMR][1000 genomes]
rs56745438	1.00[AMR][1000 genomes]
rs57439349	1.00[AMR][1000 genomes]
rs57466507	1.00[AMR][1000 genomes]
rs57791697	1.00[AMR][1000 genomes]
rs58475408	1.00[AMR][1000 genomes]
rs58905808	1.00[AMR][1000 genomes]
rs60517250	1.00[AMR][1000 genomes]
rs60899471	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61034773	1.00[AMR][1000 genomes]
rs61452337	1.00[AMR][1000 genomes]
rs7166159	1.00[AMR][1000 genomes]
rs73463351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471380	1.00[AMR][1000 genomes]
rs73473367	1.00[AMR][1000 genomes]
rs73473382	1.00[AMR][1000 genomes]
rs73473383	1.00[AMR][1000 genomes]
rs73473394	1.00[AMR][1000 genomes]
rs73473399	1.00[AMR][1000 genomes]
rs73475311	1.00[AMR][1000 genomes]
rs73475313	1.00[AMR][1000 genomes]
rs73476348	1.00[AMR][1000 genomes]
rs73476350	1.00[AMR][1000 genomes]
rs74033465	1.00[AMR][1000 genomes]
rs74033470	1.00[AMR][1000 genomes]
rs74033471	1.00[AMR][1000 genomes]
rs74033474	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS 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	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer 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	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
8	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
9	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99665000-99714200	Weak transcription	NHEK	skin
2	chr15:99673200-99789400	Weak transcription	Small Intestine	intestine
3	chr15:99678200-99708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:99684600-99706600	Weak transcription	Right Atrium	heart
5	chr15:99684800-99709200	Weak transcription	Colonic Mucosa	Colon
6	chr15:99684800-99721600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:99685000-99720200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:99689600-99707600	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:99689600-99709600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:99689800-99709400	Weak transcription	Brain Angular Gyrus	brain
11	chr15:99690000-99708200	Weak transcription	Right Ventricle	heart
12	chr15:99690000-99709400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:99690200-99704800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:99690400-99705400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:99690400-99706600	Weak transcription	Spleen	Spleen
16	chr15:99690400-99707400	Weak transcription	Gastric	stomach
17	chr15:99690400-99709800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:99690600-99709000	Weak transcription	Fetal Heart	heart
19	chr15:99692000-99707200	Weak transcription	HSMMtube	muscle
20	chr15:99692000-99717000	Weak transcription	HSMM	muscle
21	chr15:99694800-99711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:99694800-99721200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:99694800-99732600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:99694800-99732600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:99695200-99721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:99695200-99721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:99695200-99732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:99696200-99705600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr15:99696600-99706800	Weak transcription	Osteobl	bone
30	chr15:99696600-99707400	Weak transcription	HepG2	liver
31	chr15:99696600-99709200	Weak transcription	NH-A	brain
32	chr15:99696600-99710800	Weak transcription	HMEC	breast
33	chr15:99697000-99707200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr15:99697000-99716800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:99697000-99756400	Weak transcription	Stomach Mucosa	stomach
36	chr15:99697200-99712400	Weak transcription	Hela-S3	cervix
37	chr15:99698000-99706400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:99698400-99704800	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:99698400-99705200	Strong transcription	Fetal Muscle Leg	muscle
40	chr15:99698600-99709200	Weak transcription	NHLF	lung
41	chr15:99698800-99704800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:99699000-99708800	Strong transcription	Liver	Liver
43	chr15:99699200-99708400	Weak transcription	Lung	lung
44	chr15:99699400-99731400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:99699600-99706400	Weak transcription	Pancreas	Pancrea
46	chr15:99699600-99707000	Weak transcription	Fetal Thymus	thymus
47	chr15:99699800-99706600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:99699800-99709600	Weak transcription	A549	lung
49	chr15:99700000-99706600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:99700000-99707000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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