Variant report

Variant	rs2150291
Chromosome Location	chr14:64331423-64331424
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	chr14:64319483..64322302-chr14:64328481..64332813,5	MCF-7	breast:
2	chr14:64319166..64320923-chr14:64328806..64331982,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11158516	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12894053	0.85[CHB][hapmap]
rs1953241	0.92[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1959034	0.87[CHB][hapmap]
rs7146821	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs954730	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs998241	0.87[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2150291	HSPA2	cis	brain	BrainEAC
rs2150291	SYNE2	cis	cerebellum	SCAN
rs2150291	FLJ43390	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321200-64333800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:64321200-64334600	Weak transcription	Pancreas	Pancrea
3	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
5	chr14:64322400-64334400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:64322800-64340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:64322800-64340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:64323000-64332800	Weak transcription	Fetal Intestine Small	intestine
9	chr14:64323000-64333000	Weak transcription	Ovary	ovary
10	chr14:64323200-64334400	Weak transcription	Aorta	Aorta
11	chr14:64323200-64340200	Weak transcription	Left Ventricle	heart
12	chr14:64323200-64340400	Weak transcription	Spleen	Spleen
13	chr14:64324600-64341400	Weak transcription	HSMM	muscle
14	chr14:64326800-64331600	Enhancers	Stomach Mucosa	stomach
15	chr14:64327200-64332000	Weak transcription	Fetal Brain Female	brain
16	chr14:64327200-64340600	Weak transcription	Right Ventricle	heart
17	chr14:64327400-64333000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:64327600-64360000	Weak transcription	Gastric	stomach
20	chr14:64327800-64334400	Weak transcription	Lung	lung
21	chr14:64327800-64342200	Weak transcription	Esophagus	oesophagus
22	chr14:64328400-64335000	Weak transcription	Psoas Muscle	Psoas
23	chr14:64329000-64331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:64329200-64334400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:64330000-64331600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr14:64330200-64331600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr14:64330200-64343600	Weak transcription	Brain Germinal Matrix	brain
28	chr14:64330600-64331600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr14:64330600-64331600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr14:64330600-64331600	Enhancers	Liver	Liver
31	chr14:64330600-64331600	Enhancers	Fetal Thymus	thymus
32	chr14:64330600-64331600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:64330600-64331600	Flanking Active TSS	Dnd41	blood
34	chr14:64330600-64338200	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:64330800-64331600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:64330800-64331600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:64330800-64331600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr14:64330800-64331600	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr14:64330800-64331600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:64330800-64331600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:64330800-64331600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:64330800-64331600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:64330800-64331600	Enhancers	Adipose Nuclei	Adipose
44	chr14:64330800-64331600	Enhancers	Fetal Intestine Large	intestine
45	chr14:64330800-64331600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr14:64330800-64331600	Enhancers	HSMMtube	muscle
47	chr14:64330800-64331600	Enhancers	NHDF-Ad	bronchial
48	chr14:64330800-64331600	Enhancers	Osteobl	bone
49	chr14:64330800-64332200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:64330800-64332200	Active TSS	Rectal Mucosa Donor 29	rectum

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