Variant report

Variant	rs373518770
Chromosome Location	chr15:34395125-34395126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr15:34393616-34395473	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr15:34393712-34395344	GM12891	blood:	n/a	n/a
3	IRF1	chr15:34393898-34395180	K562	blood:	n/a	n/a
4	BHLHE40	chr15:34394879-34395135	K562	blood:	n/a	n/a
5	POLR2A	chr15:34394851-34395270	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr15:34392820-34395203	SK-N-SH	brain:	n/a	chr15:34393499-34393508

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34391885..34395742-chr15:34500701..34502399,4	K562	blood:
2	chr14:35342985..35344751-chr15:34393746..34395266,2	MCF-7	breast:
3	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
4	chr15:34393027..34397233-chr15:34658612..34660877,5	K562	blood:
5	chr15:34394473..34397367-chr15:34405065..34407483,2	K562	blood:
6	chr15:34391225..34395745-chr15:34498845..34504196,8	K562	blood:
7	chr15:34392855..34396101-chr15:34515904..34518783,5	MCF-7	breast:
8	chr15:34393239..34395470-chr15:34515986..34518807,4	MCF-7	breast:
9	chr15:34394445..34396841-chr15:34644524..34647284,2	K562	blood:

No data

Variant related genes	Relation type
EMC7	TF binding region
ENSG00000198604	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000128463	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
5	nsv903986	chr15:34394273-34421951	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34392400-34395400	Active TSS	Psoas Muscle	Psoas
2	chr15:34392600-34395200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:34392800-34395200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:34392800-34395200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:34392800-34395400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr15:34392800-34395600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:34393200-34395200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:34393200-34395200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:34393200-34395200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:34393200-34395200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:34393200-34395200	Active TSS	Colonic Mucosa	Colon
12	chr15:34393200-34395400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:34393400-34395200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr15:34393400-34395400	Active TSS	Brain Angular Gyrus	brain
15	chr15:34394400-34395200	Flanking Active TSS	Hela-S3	cervix
16	chr15:34394400-34395400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr15:34394600-34395200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr15:34394600-34395200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:34394600-34395200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:34394600-34395200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr15:34394600-34395200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr15:34394600-34395200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr15:34394600-34395200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:34394600-34395200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:34394600-34395200	Flanking Active TSS	Liver	Liver
26	chr15:34394600-34395200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr15:34394600-34395200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr15:34394600-34395200	Flanking Active TSS	Fetal Heart	heart
29	chr15:34394600-34395200	Enhancers	Spleen	Spleen
30	chr15:34394600-34395200	Flanking Active TSS	HUVEC	blood vessel
31	chr15:34394600-34395400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr15:34394600-34395400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:34394600-34395400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr15:34394600-34400400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:34394800-34395200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:34394800-34395200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:34394800-34395200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:34394800-34395200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr15:34394800-34395200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr15:34394800-34395200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:34394800-34395200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:34394800-34395200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:34394800-34395200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:34394800-34395200	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr15:34394800-34395200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr15:34394800-34395200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr15:34394800-34395200	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr15:34394800-34395200	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr15:34394800-34395200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr15:34394800-34395200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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