Variant report

Variant	rs13380337
Chromosome Location	chr15:40228219-40228220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40227974..40230444-chr15:40236467..40239295,4	K562	blood:
2	chr15:40214834..40219458-chr15:40222098..40228403,10	K562	blood:
3	chr15:40211366..40214080-chr15:40223428..40228644,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246863	Chromatin interaction
ENSG00000166073	Chromatin interaction
ENSG00000200305	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13379817	1.00[AMR][1000 genomes]
rs7168888	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7182245	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40226600-40228600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:40226800-40228400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:40227000-40228400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr15:40227000-40228400	Flanking Active TSS	HMEC	breast
5	chr15:40227000-40228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:40227000-40228600	Flanking Active TSS	NHEK	skin
7	chr15:40227200-40228400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:40227200-40228400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr15:40227200-40228400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr15:40227200-40228400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:40227200-40228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:40227200-40228600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:40227200-40228600	Weak transcription	Pancreas	Pancrea
14	chr15:40227200-40228600	Enhancers	Stomach Mucosa	stomach
15	chr15:40227200-40228800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr15:40227200-40229800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:40227200-40230200	Weak transcription	Aorta	Aorta
18	chr15:40227200-40230200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:40227200-40232000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:40227200-40232200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:40227200-40232200	Weak transcription	Colonic Mucosa	Colon
22	chr15:40227200-40232200	Weak transcription	Placenta	Placenta
23	chr15:40227200-40232200	Weak transcription	Left Ventricle	heart
24	chr15:40227200-40235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:40227200-40236000	Weak transcription	Brain Angular Gyrus	brain
26	chr15:40227200-40247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:40227200-40248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
29	chr15:40227400-40228400	Enhancers	HSMMtube	muscle
30	chr15:40227400-40228600	Enhancers	Duodenum Mucosa	Duodenum
31	chr15:40227400-40228600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr15:40227400-40229000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:40227400-40229000	Enhancers	NHDF-Ad	bronchial
34	chr15:40227400-40229400	Enhancers	HUVEC	blood vessel
35	chr15:40227400-40230200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:40227400-40230200	Weak transcription	Right Atrium	heart
37	chr15:40227400-40230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:40227400-40230400	Enhancers	Liver	Liver
39	chr15:40227400-40230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:40227400-40230800	Weak transcription	Fetal Stomach	stomach
41	chr15:40227400-40230800	Weak transcription	Psoas Muscle	Psoas
42	chr15:40227400-40231000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr15:40227400-40231800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:40227400-40232000	Weak transcription	Brain Substantia Nigra	brain
45	chr15:40227400-40232000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:40227400-40232200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:40227400-40232200	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:40227400-40232200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:40227400-40233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:40227400-40234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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