Variant report

Variant	rs45444697
Chromosome Location	chr1:155034632-155034633
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:155033900-155034933	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr1:155034520-155034670	GM12871	blood:	n/a	n/a
3	CTCF	chr1:155034620-155034770	GM12865	blood:	n/a	n/a
4	EBF1	chr1:155033954-155034855	GM12878	blood:	n/a	chr1:155034210-155034221
5	RAD21	chr1:155033426-155034708	SK-N-SH	brain:	n/a	chr1:155033534-155033548 chr1:155033510-155033524 chr1:155033458-155033468 chr1:155033507-155033520
6	CTCF	chr1:155034500-155034650	SAEC	small airway:	n/a	n/a
7	CTCF	chr1:155034601-155035026	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:155033986-155034906	GM12891	blood:	n/a	n/a
9	CTCF	chr1:155034580-155034730	HMEC	breast:	n/a	n/a
10	CTCF	chr1:155034437-155035138	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:155033275-155034855	HL-60	blood:	n/a	n/a
12	JUN	chr1:155033762-155034876	K562	blood:	n/a	n/a
13	CTCF	chr1:155034620-155034770	GM06990	blood:	n/a	n/a
14	CTCF	chr1:155033668-155036363	A549	lung:	n/a	chr1:155035307-155035325
15	SMC3	chr1:155033565-155034879	SK-N-SH	brain:	n/a	chr1:155033872-155033882
16	CTCF	chr1:155034004-155034697	GM19239	blood:	n/a	n/a
17	POLR2A	chr1:155034593-155034638	HUVEC	blood vessel:	n/a	n/a
18	MAZ	chr1:155033718-155034900	IMR90	lung:	n/a	chr1:155034868-155034878
19	POLR2A	chr1:155034623-155034755	H1-hESC	embryonic stem cell:	n/a	n/a
20	TCF12	chr1:155033800-155034830	A549	lung:	n/a	chr1:155033875-155033885

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155034120..155034643-chr1:155057623..155058276,2	K562	blood:
2	chr1:154989683..154990484-chr1:155034086..155034635,2	MCF-7	breast:
3	chr1:154944693..154948498-chr1:155033358..155037574,5	K562	blood:
4	chr1:154939878..154945720-chr1:155033369..155036154,5	MCF-7	breast:
5	chr1:154908713..154910557-chr1:155032303..155034913,2	MCF-7	breast:
6	chr1:155034568..155037098-chr1:155106619..155109204,2	MCF-7	breast:
7	chr1:154971009..154978300-chr1:155033602..155036845,7	K562	blood:
8	chr1:155033872..155036303-chr1:155100815..155102776,3	MCF-7	breast:
9	chr1:154927481..154932587-chr1:155031885..155037682,6	MCF-7	breast:
10	chr1:154943492..154949367-chr1:155033837..155038035,9	MCF-7	breast:
11	chr1:155033847..155038699-chr1:155096296..155100742,10	MCF-7	breast:
12	chr1:154933177..154934907-chr1:155034094..155037723,3	MCF-7	breast:
13	chr1:154908789..154910425-chr1:155034251..155037160,2	K562	blood:
14	chr1:154932754..154935795-chr1:155033186..155037944,5	MCF-7	breast:
15	chr1:154946217..154947024-chr1:155034138..155034762,2	K562	blood:
16	chr1:154964932..154968514-chr1:155033457..155035305,3	K562	blood:
17	chr1:154945666..154948498-chr1:155033358..155037574,4	K562	blood:
18	chr1:155034206..155036966-chr1:155163322..155165857,2	MCF-7	breast:
19	chr1:154969072..154977664-chr1:155030052..155039846,22	MCF-7	breast:
20	chr1:154529028..154532359-chr1:155034427..155037689,4	MCF-7	breast:

No data

Variant related genes	Relation type
ADAM15	TF binding region
EFNA4	TF binding region
EFNA3	TF binding region
ENSG00000251246	TF binding region
ENSG00000270361	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000163346	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000163352	Chromatin interaction
ENSG00000160688	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000271380	Chromatin interaction
ENSG00000264349	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000173207	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41264285	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702273	0.80[AFR][1000 genomes]

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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv872456	chr1:155028692-155035611	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs45444697	ADAM15	cis	Whole Blood	GTEx
rs45444697	ADAM15	Cis_1M	lymphoblastoid	RTeQTL
rs45444697	ADAM15	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155029400-155035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:155031400-155034800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:155031400-155035800	Weak transcription	HSMMtube	muscle
4	chr1:155031600-155035800	Weak transcription	Aorta	Aorta
5	chr1:155033200-155035400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:155033400-155035200	Genic enhancers	Spleen	Spleen
7	chr1:155033600-155034800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:155033600-155035200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:155033600-155035400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:155033600-155035400	Enhancers	HMEC	breast
11	chr1:155033600-155035600	Enhancers	Fetal Heart	heart
12	chr1:155033800-155034800	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:155033800-155034800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:155033800-155035000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:155033800-155035000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:155033800-155035000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:155033800-155035000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:155033800-155035000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:155033800-155035000	Enhancers	Pancreas	Pancrea
20	chr1:155033800-155035000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:155033800-155035000	Genic enhancers	NHEK	skin
22	chr1:155033800-155035200	Enhancers	Primary B cells from cord blood	blood
23	chr1:155033800-155035200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:155033800-155035200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:155033800-155035200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:155033800-155035200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:155033800-155035200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:155033800-155035200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:155033800-155035400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:155033800-155035400	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:155033800-155035400	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:155033800-155035400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:155033800-155035400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:155033800-155035400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:155033800-155035400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:155033800-155035400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:155033800-155035400	Genic enhancers	Esophagus	oesophagus
38	chr1:155033800-155035400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr1:155033800-155035400	Enhancers	Placenta	Placenta
40	chr1:155033800-155035400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr1:155033800-155035400	Enhancers	Gastric	stomach
42	chr1:155033800-155035400	Enhancers	Left Ventricle	heart
43	chr1:155033800-155035600	Enhancers	Liver	Liver
44	chr1:155034000-155034800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:155034000-155034800	Genic enhancers	Lung	lung
46	chr1:155034000-155035200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:155034000-155035200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:155034000-155035200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:155034000-155035400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:155034000-155035400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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