Variant report

Variant	rs73015063
Chromosome Location	chr1:150293416-150293417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:150293387-150293933	U2OS	brain:	n/a	n/a
2	POLR2A	chr1:150293315-150293637	HUVEC	blood vessel:	n/a	n/a
3	JUN	chr1:150293077-150294782	K562	blood:	n/a	n/a
4	POLR2A	chr1:150293258-150294455	GM12891	blood:	n/a	n/a
5	HCFC1	chr1:150293139-150295590	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:150293130-150294889	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:150293289-150294603	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:150293092-150293563	HUVEC	blood vessel:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150207682..150210552-chr1:150291812..150294121,3	K562	blood:
2	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
3	chr1:150292363..150295488-chr1:150335350..150339295,4	K562	blood:
4	chr1:150291213..150297860-chr1:150334210..150339087,16	MCF-7	breast:
5	chr1:150206959..150209855-chr1:150291649..150295634,4	MCF-7	breast:
6	chr1:149869289..149872659-chr1:150292468..150294685,3	MCF-7	breast:
7	chr1:150264700..150268461-chr1:150290358..150296338,12	MCF-7	breast:
8	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:
9	chr1:150264361..150267747-chr1:150292578..150295568,3	K562	blood:
10	chr1:149857707..149859573-chr1:150292881..150294813,2	MCF-7	breast:
11	chr1:150253619..150256471-chr1:150290811..150295516,7	MCF-7	breast:
12	chr1:150207085..150210384-chr1:150292615..150294360,3	K562	blood:
13	chr1:150264496..150269056-chr1:150292330..150296241,7	MCF-7	breast:
14	chr1:145504895..145507513-chr1:150292334..150294058,2	MCF-7	breast:
15	chr1:150265031..150267516-chr1:150292699..150295000,3	K562	blood:
16	chr1:150254416..150258326-chr1:150293142..150296194,3	K562	blood:
17	chr1:150293284..150294167-chr7:123388696..123389426,2	Hela-S3	cervix:
18	chr1:150252171..150257673-chr1:150291650..150295636,15	MCF-7	breast:
19	chr1:150292681..150294454-chr19:1247452..1249976,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRPF3	TF binding region
ENSG00000234222	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000272686	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000106299	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs12116970	0.85[ASN][1000 genomes]
rs12718416	0.85[ASN][1000 genomes]
rs12729719	0.85[ASN][1000 genomes]
rs13057	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16830437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835699	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835708	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835782	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836442	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836576	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836594	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836601	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836786	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836940	0.83[ASN][1000 genomes]
rs16836943	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2015966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2275245	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2275778	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2275779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3737319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3738322	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3806389	0.89[ASN][1000 genomes]
rs3850843	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4926420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4926430	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4970925	0.89[ASN][1000 genomes]
rs4970927	0.85[ASN][1000 genomes]
rs4970946	0.85[ASN][1000 genomes]
rs4970947	0.89[ASN][1000 genomes]
rs522068	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56882505	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56909494	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57163995	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57272513	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57361164	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57971032	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58373639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58419446	0.81[ASN][1000 genomes]
rs58516261	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59367061	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59378360	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59639798	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59662772	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60456922	0.81[ASN][1000 genomes]
rs60459288	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60531845	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60730811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60758881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61605510	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6679726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6680391	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6700009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6700607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71622690	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73011380	0.87[ASN][1000 genomes]
rs73011384	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73011400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73013119	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73013129	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015096	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73017006	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73017073	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73017086	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73017092	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73017102	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73019017	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73019018	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73019020	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73019021	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73019027	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73019028	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7543314	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs871527	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs953127	0.84[AMR][1000 genomes];0.89[ASN][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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150281600-150293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:150282800-150293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:150293200-150293600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:150293200-150293600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr1:150293200-150293600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:150293200-150293600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:150293200-150293600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:150293200-150293600	Flanking Active TSS	Thymus	Thymus
9	chr1:150293200-150293600	Enhancers	Spleen	Spleen
10	chr1:150293200-150293600	Flanking Active TSS	Dnd41	blood
11	chr1:150293200-150293600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:150293200-150293800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:150293200-150294000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:150293200-150294200	Active TSS	Primary B cells from cord blood	blood
15	chr1:150293200-150294400	Active TSS	Primary T cells from cord blood	blood
16	chr1:150293200-150294400	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:150293200-150294400	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:150293200-150294400	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr1:150293200-150294400	Active TSS	Adipose Nuclei	Adipose
20	chr1:150293200-150294400	Active TSS	Brain Cingulate Gyrus	brain
21	chr1:150293200-150294400	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr1:150293200-150294400	Active TSS	Brain Substantia Nigra	brain
23	chr1:150293200-150294400	Active TSS	Duodenum Mucosa	Duodenum
24	chr1:150293200-150294400	Active TSS	NHLF	lung
25	chr1:150293200-150294600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:150293200-150294600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:150293200-150294600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:150293200-150294600	Active TSS	Brain Hippocampus Middle	brain
29	chr1:150293200-150294600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:150293200-150294600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr1:150293200-150294600	Active TSS	Fetal Kidney	kidney
32	chr1:150293200-150294600	Active TSS	Fetal Lung	lung
33	chr1:150293200-150294600	Active TSS	Pancreas	Pancrea
34	chr1:150293200-150294600	Active TSS	Rectal Smooth Muscle	rectum
35	chr1:150293200-150294600	Active TSS	HSMM	muscle
36	chr1:150293200-150294600	Active TSS	Osteobl	bone
37	chr1:150293200-150294800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:150293200-150294800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:150293200-150294800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:150293200-150294800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:150293200-150294800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:150293200-150294800	Active TSS	Brain Angular Gyrus	brain
43	chr1:150293200-150294800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:150293200-150294800	Active TSS	Fetal Intestine Large	intestine
45	chr1:150293200-150294800	Active TSS	Fetal Stomach	stomach
46	chr1:150293200-150294800	Active TSS	Left Ventricle	heart
47	chr1:150293200-150294800	Active TSS	Psoas Muscle	Psoas
48	chr1:150293200-150294800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:150293200-150294800	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:150293200-150294800	Active TSS	Stomach Smooth Muscle	stomach

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