Variant report

Variant	rs58758000
Chromosome Location	chr15:44729625-44729626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44728934..44731532-chr15:44731569..44733789,3	K562	blood:
2	chr15:44718254..44723247-chr15:44726957..44730809,6	K562	blood:
3	chr15:44728691..44731050-chr15:44731813..44733565,2	K562	blood:
4	chr15:44718864..44724435-chr15:44726722..44730869,8	K562	blood:

Variant related genes	Relation type
ENSG00000259595	Chromatin interaction
ENSG00000137770	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12324129	1.00[AMR][1000 genomes]
rs12324372	1.00[AMR][1000 genomes]
rs56719500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57119348	1.00[AMR][1000 genomes]
rs57459307	1.00[AMR][1000 genomes]
rs59261301	1.00[AMR][1000 genomes]
rs8041448	1.00[AMR][1000 genomes]
rs9972380	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 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	chr15:44720400-44733000	Weak transcription	Gastric	stomach
2	chr15:44720400-44740000	Weak transcription	Esophagus	oesophagus
3	chr15:44720400-44740000	Weak transcription	Pancreas	Pancrea
4	chr15:44720600-44740000	Weak transcription	Aorta	Aorta
5	chr15:44720800-44733000	Weak transcription	Left Ventricle	heart
6	chr15:44720800-44754000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:44721000-44733000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:44721000-44733000	Weak transcription	Ovary	ovary
9	chr15:44721000-44733200	Weak transcription	Right Ventricle	heart
10	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:44721400-44733400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:44721600-44732800	Weak transcription	Adipose Nuclei	Adipose
13	chr15:44721600-44733000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:44721600-44750800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:44721600-44751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:44721600-44753000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:44721800-44729800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:44721800-44730400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:44721800-44730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:44721800-44732800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:44721800-44734800	Weak transcription	Fetal Brain Female	brain
22	chr15:44721800-44735000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:44721800-44735200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:44721800-44735400	Weak transcription	Fetal Intestine Large	intestine
25	chr15:44721800-44739800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:44721800-44750600	Weak transcription	Fetal Lung	lung
27	chr15:44721800-44750800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:44721800-44751800	Weak transcription	Primary B cells from cord blood	blood
29	chr15:44722000-44732600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:44722000-44733400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:44722200-44730400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:44722200-44733000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:44722200-44733000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:44722200-44739800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:44722400-44729800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:44722600-44739800	Weak transcription	Thymus	Thymus
37	chr15:44722600-44751200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr15:44722800-44732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:44722800-44732800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:44722800-44733400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr15:44722800-44760600	Weak transcription	Small Intestine	intestine
42	chr15:44723000-44730800	Weak transcription	K562	blood
43	chr15:44724200-44733000	Weak transcription	Psoas Muscle	Psoas
44	chr15:44724400-44730600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:44725200-44739800	Weak transcription	Lung	lung
46	chr15:44725400-44733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:44725400-44735000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:44725600-44730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:44725600-44733000	Weak transcription	HepG2	liver
50	chr15:44725800-44756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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