Variant report

Variant	rs934937
Chromosome Location	chr15:40614546-40614547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40614484-40615902	SK-N-MC	brain:	n/a	n/a
2	RCOR1	chr15:40614508-40616022	IMR90	lung:	n/a	n/a
3	MAZ	chr15:40614373-40617806	IMR90	lung:	n/a	chr15:40614503-40614513 chr15:40617461-40617470
4	CTBP2	chr15:40614278-40615958	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
2	chr15:40573745..40575892-chr15:40613923..40616158,2	K562	blood:
3	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
4	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
5	chr15:40581922..40583593-chr15:40614518..40616173,2	K562	blood:
6	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
7	chr15:40613571..40616194-chr15:40676591..40679577,2	K562	blood:
8	chr15:40611920..40613859-chr15:40613927..40615590,2	K562	blood:
9	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
10	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
11	chr15:40510541..40512947-chr15:40613762..40616049,2	K562	blood:
12	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
13	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
14	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
15	chr15:40613324..40616013-chr15:40714259..40715828,2	K562	blood:
16	chr15:40613352..40615012-chr15:40615826..40618374,2	MCF-7	breast:
17	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

No data

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000169105	Chromatin interaction
ENSG00000259288	Chromatin interaction
ENSG00000230778	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000259330	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1077476	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11070264	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11630891	0.88[CEU][hapmap]
rs12081	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2118961	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2289333	0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2289334	0.90[ASN][1000 genomes]
rs28602975	0.88[CEU][hapmap]
rs4334271	0.85[JPT][hapmap]
rs4924455	0.85[JPT][hapmap]
rs7164564	0.90[ASN][1000 genomes]
rs7164747	0.90[ASN][1000 genomes]
rs7173747	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs748245	0.85[JPT][hapmap]
rs882829	0.86[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40584200-40614800	Weak transcription	Gastric	stomach
2	chr15:40600000-40614600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:40602000-40614600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:40602600-40614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:40606000-40615200	Weak transcription	Psoas Muscle	Psoas
6	chr15:40606600-40615000	Weak transcription	Colonic Mucosa	Colon
7	chr15:40607400-40614600	Weak transcription	Hela-S3	cervix
8	chr15:40607600-40614600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:40608000-40614600	Weak transcription	HSMM	muscle
10	chr15:40608000-40615000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:40610600-40614800	Weak transcription	GM12878-XiMat	blood
12	chr15:40612400-40614600	Enhancers	HepG2	liver
13	chr15:40612400-40615600	Enhancers	Fetal Heart	heart
14	chr15:40612600-40615000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:40613000-40614600	Enhancers	Stomach Smooth Muscle	stomach
16	chr15:40613000-40614800	Enhancers	Colon Smooth Muscle	Colon
17	chr15:40613000-40615000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:40613000-40615200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr15:40613000-40615200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:40613200-40614600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr15:40613200-40614600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:40613200-40614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:40613200-40614800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:40613200-40615200	Weak transcription	Left Ventricle	heart
25	chr15:40613400-40614600	Weak transcription	Fetal Lung	lung
26	chr15:40613400-40615000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr15:40613400-40615200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:40613400-40615200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:40613400-40615200	Enhancers	K562	blood
30	chr15:40613400-40617000	Enhancers	Fetal Brain Male	brain
31	chr15:40613600-40614600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:40613600-40614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:40613600-40614600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:40613600-40614800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:40613600-40614800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:40613600-40614800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr15:40613600-40614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:40613600-40615000	Weak transcription	Primary B cells from cord blood	blood
39	chr15:40613600-40615000	Weak transcription	HUVEC	blood vessel
40	chr15:40613600-40615200	Weak transcription	HSMMtube	muscle
41	chr15:40613800-40614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:40613800-40614600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:40613800-40614800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:40614000-40614600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr15:40614000-40615200	Enhancers	Fetal Muscle Leg	muscle
46	chr15:40614200-40614600	Enhancers	NHEK	skin
47	chr15:40614200-40614800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr15:40614200-40614800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr15:40614200-40614800	Enhancers	Fetal Muscle Trunk	muscle
50	chr15:40614200-40615000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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