Variant report

Variant	rs13380361
Chromosome Location	chr15:44740298-44740299
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44738517..44741148-chr15:44741345..44743976,2	K562	blood:

Variant related genes	Relation type
ENSG00000259335	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12324005	0.85[MKK][hapmap]
rs7164866	0.85[MKK][hapmap]
rs871923	0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9972451	1.00[GIH][hapmap]
rs9972459	1.00[MKK][hapmap]

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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44720800-44754000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:44721600-44750800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr15:44721600-44751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:44721600-44753000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:44721800-44750600	Weak transcription	Fetal Lung	lung
7	chr15:44721800-44750800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:44721800-44751800	Weak transcription	Primary B cells from cord blood	blood
9	chr15:44722600-44751200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr15:44722800-44760600	Weak transcription	Small Intestine	intestine
11	chr15:44725800-44756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:44728800-44751800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:44728800-44753000	Weak transcription	HMEC	breast
14	chr15:44728800-44754200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:44728800-44755800	Weak transcription	HSMM	muscle
16	chr15:44728800-44760600	Weak transcription	NHEK	skin
17	chr15:44729000-44751200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:44729000-44751200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:44730800-44741000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:44732000-44742200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:44733600-44749400	Weak transcription	Brain Angular Gyrus	brain
22	chr15:44733600-44752000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:44733600-44760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:44733800-44743000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:44733800-44749200	Weak transcription	Liver	Liver
26	chr15:44733800-44751800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:44733800-44754800	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:44733800-44756400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr15:44733800-44779000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:44734000-44744600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:44734200-44741000	Weak transcription	Right Atrium	heart
32	chr15:44734200-44745000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:44734200-44751200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr15:44734200-44754200	Weak transcription	Brain Anterior Caudate	brain
35	chr15:44734400-44744600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:44734400-44751200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:44734400-44757400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:44735600-44740600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:44735600-44779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:44736200-44751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:44736200-44751800	Weak transcription	K562	blood
42	chr15:44736400-44743200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:44736400-44749800	Weak transcription	A549	lung
44	chr15:44736400-44751200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:44736800-44751800	Weak transcription	Brain Germinal Matrix	brain
46	chr15:44737200-44741200	Strong transcription	Fetal Stomach	stomach
47	chr15:44737800-44741800	Weak transcription	Adipose Nuclei	Adipose
48	chr15:44738200-44741600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:44738400-44741200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:44738600-44751400	Weak transcription	Fetal Brain Female	brain

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