Variant report

Variant	rs60456922
Chromosome Location	chr1:150236472-150236473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150234401-150237292	K562	blood:	n/a	n/a
2	POLR2A	chr1:150234998-150236788	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:150235058-150236784	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:150233386-150236861	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:150235210-150236794	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:150235290-150237462	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr1:150235255-150236783	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:150233468-150237434	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:150233989-150237314	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:150236470-150236801	K562	blood:	n/a	n/a
11	POLR2A	chr1:150235380-150236946	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr1:150236339-150236773	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:150236347-150236547	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:150233483-150236888	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150235850..150239142-chr1:150253638..150255727,4	K562	blood:
2	chr1:150206880..150209093-chr1:150235323..150238769,4	MCF-7	breast:
3	chr1:148241110..148242000-chr1:150235859..150236487,2	Hela-S3	cervix:
4	chr1:150222083..150223904-chr1:150235956..150238749,2	MCF-7	breast:
5	chr1:150234614..150237282-chr1:150487610..150489545,2	K562	blood:
6	chr1:150234315..150237513-chr1:150265191..150267090,3	K562	blood:
7	chr1:150206734..150209121-chr1:150233630..150237295,4	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf54	TF binding region
ENSG00000228126	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000207501	Chromatin interaction
ENSG00000187145	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16830437	0.85[ASN][1000 genomes]
rs16835699	0.85[ASN][1000 genomes]
rs16835708	0.85[ASN][1000 genomes]
rs16835782	0.85[ASN][1000 genomes]
rs16835791	0.85[ASN][1000 genomes]
rs16835911	0.81[ASN][1000 genomes]
rs16836130	0.81[ASN][1000 genomes]
rs16836139	0.81[ASN][1000 genomes]
rs16836442	0.81[ASN][1000 genomes]
rs2015966	0.81[ASN][1000 genomes]
rs2275778	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2275779	0.81[ASN][1000 genomes]
rs3737319	0.81[ASN][1000 genomes]
rs3738322	0.82[ASN][1000 genomes]
rs4926420	0.81[ASN][1000 genomes]
rs57163995	0.81[ASN][1000 genomes]
rs57361164	0.85[ASN][1000 genomes]
rs58516261	0.81[ASN][1000 genomes]
rs60531845	0.81[ASN][1000 genomes]
rs60730811	0.81[ASN][1000 genomes]
rs6700009	0.81[ASN][1000 genomes]
rs71622690	0.81[ASN][1000 genomes]
rs73011380	0.93[ASN][1000 genomes]
rs73011384	0.85[ASN][1000 genomes]
rs73011400	0.85[ASN][1000 genomes]
rs73013119	0.85[ASN][1000 genomes]
rs73013129	0.81[ASN][1000 genomes]
rs73015063	0.81[ASN][1000 genomes]
rs73015078	0.81[ASN][1000 genomes]
rs73015081	0.81[ASN][1000 genomes]
rs73015095	0.81[ASN][1000 genomes]
rs73015096	0.81[ASN][1000 genomes]
rs73017006	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv872415	chr1:150210538-150248046	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150230800-150239400	Weak transcription	Fetal Brain Male	brain
2	chr1:150230800-150239400	Weak transcription	Right Atrium	heart
3	chr1:150231800-150237000	Weak transcription	Fetal Brain Female	brain
4	chr1:150232000-150236600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:150232000-150237000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:150232200-150237000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:150232200-150237000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:150232400-150237000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:150232600-150236800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:150232600-150237600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:150232600-150240400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:150232800-150236800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:150232800-150236800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:150232800-150236800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:150232800-150236800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:150232800-150237000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:150232800-150237200	Weak transcription	A549	lung
18	chr1:150233000-150236600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:150233000-150236600	Weak transcription	Adipose Nuclei	Adipose
20	chr1:150233000-150236600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:150233000-150236800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:150233000-150236800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:150233000-150236800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:150233000-150236800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:150233000-150236800	Weak transcription	Placenta	Placenta
26	chr1:150233000-150236800	Weak transcription	Fetal Thymus	thymus
27	chr1:150233000-150236800	Weak transcription	Left Ventricle	heart
28	chr1:150233000-150236800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:150233000-150237000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:150233000-150237000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:150233000-150237000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:150233000-150237000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:150233000-150237000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:150233000-150237000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:150233000-150237000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:150233000-150237000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:150233000-150237000	Weak transcription	Ovary	ovary
38	chr1:150233000-150237000	Weak transcription	Pancreas	Pancrea
39	chr1:150233000-150237000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:150233000-150237000	Weak transcription	Psoas Muscle	Psoas
41	chr1:150233000-150237000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:150233000-150237000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:150233000-150237000	Weak transcription	HepG2	liver
44	chr1:150233000-150237000	Weak transcription	HSMMtube	muscle
45	chr1:150233000-150237000	Weak transcription	NH-A	brain
46	chr1:150233000-150237000	Weak transcription	NHDF-Ad	bronchial
47	chr1:150233000-150237000	Weak transcription	Osteobl	bone
48	chr1:150233000-150237800	Weak transcription	Colonic Mucosa	Colon
49	chr1:150233000-150239000	Weak transcription	Fetal Kidney	kidney
50	chr1:150233000-150239400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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