Variant report

Variant	rs574569705
Chromosome Location	chr1:151320243-151320244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:151318526-151320878	K562	blood:	n/a	chr1:151319898-151319907
2	BHLHE40	chr1:151319205-151320261	GM12878	blood:	n/a	n/a
3	MAX	chr1:151319143-151320386	K562	blood:	n/a	chr1:151319544-151319554
4	MAZ	chr1:151319150-151320327	K562	blood:	n/a	n/a
5	MAX	chr1:151319191-151320483	HCT-116	colon:	n/a	chr1:151319544-151319554
6	E2F6	chr1:151319214-151320278	A549	lung:	n/a	chr1:151319404-151319413
7	TBL1XR1	chr1:151318994-151320357	K562	blood:	n/a	n/a
8	POLR2A	chr1:151319877-151320858	GM12891	blood:	n/a	n/a
9	CHD1	chr1:151318391-151320339	GM12878	blood:	n/a	n/a
10	BCLAF1	chr1:151319064-151320339	GM12878	blood:	n/a	chr1:151319917-151319926 chr1:151319339-151319352 chr1:151319953-151319962
11	POLR2A	chr1:151318162-151320843	GM12891	blood:	n/a	n/a
12	NFATC1	chr1:151318852-151320382	GM12878	blood:	n/a	n/a
13	SIX5	chr1:151319855-151320284	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:151319108-151320422	GM18951	blood:	n/a	n/a
15	E2F4	chr1:151319811-151320267	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:151319047-151320816	H1-hESC	embryonic stem cell:	n/a	n/a
17	RELA	chr1:151319231-151320477	GM12892	blood:	n/a	n/a
18	ATF2	chr1:151319041-151320532	GM12878	blood:	n/a	n/a
19	CHD2	chr1:151319128-151320278	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:151318153-151320828	GM12878	blood:	n/a	n/a
21	EBF1	chr1:151319766-151320299	GM12878	blood:	n/a	chr1:151320004-151320015
22	CBX3	chr1:151319125-151320378	K562	blood:	n/a	n/a
23	SRF	chr1:151318961-151320329	MCF-7	breast:	n/a	n/a
24	MAX	chr1:151319124-151320374	A549	lung:	n/a	chr1:151319544-151319554
25	NFIC	chr1:151319021-151320287	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:151318910-151320385	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr1:151320143-151320291	H1-hESC	embryonic stem cell:	n/a	n/a
28	TBP	chr1:151318761-151320510	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr1:151319078-151320367	NB4	blood:	n/a	chr1:151319544-151319554
30	MAX	chr1:151319166-151320310	H1-hESC	embryonic stem cell:	n/a	chr1:151319544-151319554
31	REST	chr1:151318839-151320475	H1-neurons	neurons:	n/a	n/a
32	EBF1	chr1:151319158-151320616	GM12878	blood:	n/a	chr1:151320004-151320015
33	SRF	chr1:151319139-151320258	MCF-7	breast:	n/a	n/a
34	SIN3AK20	chr1:151318993-151320557	MCF-7	breast:	n/a	n/a
35	BHLHE40	chr1:151319236-151320299	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:151319138-151320347	GM12892	blood:	n/a	n/a
37	TBL1XR1	chr1:151318955-151320416	GM12878	blood:	n/a	n/a
38	MXI1	chr1:151318693-151320793	SK-N-SH	brain:	n/a	n/a
39	RELA	chr1:151319088-151320853	GM10847	blood:	n/a	n/a
40	POLR2A	chr1:151318024-151320829	GM12878	blood:	n/a	n/a
41	TCF12	chr1:151319110-151320314	A549	lung:	n/a	chr1:151319971-151319978
42	POLR2A	chr1:151318867-151320281	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZMIZ1	chr1:151319910-151320299	K562	blood:	n/a	n/a
44	POLR2A	chr1:151313010-151321039	H1-hESC	embryonic stem cell:	n/a	n/a
45	RFX5	chr1:151318109-151321030	IMR90	lung:	n/a	chr1:151319898-151319907
46	SP1	chr1:151319315-151320405	GM12878	blood:	n/a	chr1:151319409-151319423 chr1:151319614-151319625
47	CEBPB	chr1:151319278-151320322	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:151319192-151320536	GM19193	blood:	n/a	n/a
49	FOXM1	chr1:151318938-151320290	GM12878	blood:	n/a	n/a
50	MXI1	chr1:151318508-151320617	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151298559..151302678-chr1:151316998..151321426,11	MCF-7	breast:
2	chr1:151317602..151320403-chr1:151337333..151341038,5	MCF-7	breast:
3	chr1:151320017..151321943-chr1:151326948..151329539,3	MCF-7	breast:
4	chr1:151320179..151321696-chr1:151331665..151333678,2	MCF-7	breast:
5	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
6	chr1:151318199..151320967-chr1:151371516..151373553,2	K562	blood:
7	chr1:151264932..151267959-chr1:151318358..151320538,3	MCF-7	breast:
8	chr1:151319574..151321193-chr1:151343801..151346115,3	MCF-7	breast:
9	chr1:151319505..151321169-chr1:151370320..151372349,2	MCF-7	breast:
10	chr1:151298409..151301460-chr1:151318358..151322178,4	K562	blood:
11	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
12	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
13	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
14	chr1:151253042..151255866-chr1:151318395..151322175,4	K562	blood:
15	chr1:151317450..151322791-chr1:151370457..151374000,10	MCF-7	breast:
16	chr1:151319339..151321545-chr17:56707745..56710309,2	MCF-7	breast:
17	chr1:151252248..151255623-chr1:151318407..151321879,5	MCF-7	breast:
18	chr1:151320087..151321820-chr1:151338944..151340888,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMB4-1	chr1:151320108-151320503	ENSG00000237976.1

No data

Variant related genes	Relation type
RFX5	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000206635	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv438026	chr1:151318733-151344703	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151318600-151320400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:151318600-151320400	Active TSS	GM12878-XiMat	blood
3	chr1:151318800-151320400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:151318800-151320400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:151318800-151320400	Active TSS	Fetal Muscle Trunk	muscle
6	chr1:151318800-151320600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:151319000-151320400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:151319000-151320400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:151319000-151320600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:151319000-151320600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:151319000-151320600	Active TSS	Fetal Brain Female	brain
12	chr1:151319000-151320600	Active TSS	Right Ventricle	heart
13	chr1:151319600-151320600	Active TSS	Stomach Smooth Muscle	stomach
14	chr1:151319800-151320400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:151319800-151320400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:151320000-151320400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr1:151320000-151320400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr1:151320000-151320400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:151320000-151320400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr1:151320000-151320400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:151320000-151320400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:151320000-151320400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:151320000-151320400	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr1:151320000-151320400	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr1:151320000-151320400	Flanking Active TSS	Placenta	Placenta
26	chr1:151320000-151320400	Flanking Active TSS	Fetal Thymus	thymus
27	chr1:151320000-151320400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:151320000-151320400	Flanking Active TSS	HSMM	muscle
29	chr1:151320000-151320400	Flanking Active TSS	HUVEC	blood vessel
30	chr1:151320000-151320600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:151320000-151320600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr1:151320000-151320600	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr1:151320000-151320600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:151320000-151320600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr1:151320000-151320600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr1:151320000-151320600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr1:151320000-151320600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:151320000-151320600	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr1:151320000-151320600	Flanking Active TSS	Fetal Brain Male	brain
40	chr1:151320000-151320600	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr1:151320000-151320600	Flanking Active TSS	NH-A	brain
42	chr1:151320000-151320600	Flanking Active TSS	Osteobl	bone
43	chr1:151320000-151320800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr1:151320000-151320800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:151320000-151320800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:151320000-151320800	Flanking Active TSS	Dnd41	blood
47	chr1:151320000-151320800	Flanking Active TSS	Hela-S3	cervix
48	chr1:151320000-151320800	Flanking Active TSS	K562	blood
49	chr1:151320200-151320400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:151320200-151320400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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