Variant report

Variant	rs10518985
Chromosome Location	chr15:44724287-44724288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44718835..44721035-chr15:44723501..44725751,3	K562	blood:
2	chr15:44722842..44724510-chr15:44732921..44735166,2	K562	blood:
3	chr15:44714578..44716892-chr15:44722864..44724371,2	K562	blood:
4	chr1:11968301..11970323-chr15:44722385..44724773,2	K562	blood:

Variant related genes	Relation type
ENSG00000259595	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000137770	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2412864	1.00[ASW][hapmap];1.00[MKK][hapmap]

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	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	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44720400-44727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:44720400-44733000	Weak transcription	Gastric	stomach
3	chr15:44720400-44740000	Weak transcription	Esophagus	oesophagus
4	chr15:44720400-44740000	Weak transcription	Pancreas	Pancrea
5	chr15:44720600-44740000	Weak transcription	Aorta	Aorta
6	chr15:44720800-44733000	Weak transcription	Left Ventricle	heart
7	chr15:44720800-44754000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:44721000-44724800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:44721000-44725200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:44721000-44733000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:44721000-44733000	Weak transcription	Ovary	ovary
12	chr15:44721000-44733200	Weak transcription	Right Ventricle	heart
13	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:44721200-44724600	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:44721200-44728200	Weak transcription	HSMM	muscle
16	chr15:44721400-44724800	Weak transcription	Fetal Thymus	thymus
17	chr15:44721400-44728000	Weak transcription	Osteobl	bone
18	chr15:44721400-44733400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:44721600-44728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:44721600-44728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr15:44721600-44728200	Weak transcription	Brain Angular Gyrus	brain
22	chr15:44721600-44728200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:44721600-44728200	Weak transcription	A549	lung
24	chr15:44721600-44729000	Weak transcription	Fetal Kidney	kidney
25	chr15:44721600-44732800	Weak transcription	Adipose Nuclei	Adipose
26	chr15:44721600-44733000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:44721600-44750800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr15:44721600-44751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:44721600-44753000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:44721800-44725800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:44721800-44726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:44721800-44728000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:44721800-44728000	Weak transcription	NHDF-Ad	bronchial
34	chr15:44721800-44728200	Weak transcription	HMEC	breast
35	chr15:44721800-44729800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:44721800-44730400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:44721800-44730600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:44721800-44732800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:44721800-44734800	Weak transcription	Fetal Brain Female	brain
40	chr15:44721800-44735000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:44721800-44735200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:44721800-44735400	Weak transcription	Fetal Intestine Large	intestine
43	chr15:44721800-44739800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:44721800-44750600	Weak transcription	Fetal Lung	lung
45	chr15:44721800-44750800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:44721800-44751800	Weak transcription	Primary B cells from cord blood	blood
47	chr15:44722000-44732600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:44722000-44733400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:44722200-44725600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:44722200-44728200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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