Variant report

Variant	rs535881194
Chromosome Location	chr1:151318927-151318928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

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	CHD1	chr1:151318391-151320339	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:151318786-151319783	GM12891	blood:	n/a	n/a
4	POLR2A	chr1:151318162-151320843	GM12891	blood:	n/a	n/a
5	NFATC1	chr1:151318852-151320382	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:151318153-151320828	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:151318910-151320385	SK-N-MC	brain:	n/a	n/a
8	TBP	chr1:151318761-151320510	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr1:151318839-151320475	H1-neurons	neurons:	n/a	n/a
10	MXI1	chr1:151318693-151320793	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:151318024-151320829	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:151318867-151320281	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:151313010-151321039	H1-hESC	embryonic stem cell:	n/a	n/a
14	RFX5	chr1:151318109-151321030	IMR90	lung:	n/a	chr1:151319898-151319907
15	MXI1	chr1:151318508-151320617	GM12878	blood:	n/a	n/a
16	PML	chr1:151318114-151320984	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:151318575-151320368	GM18505	blood:	n/a	n/a
18	YY1	chr1:151318575-151318933	GM12878	blood:	n/a	n/a
19	MAZ	chr1:151318682-151320281	IMR90	lung:	n/a	n/a
20	POLR2A	chr1:151318275-151320712	GM19099	blood:	n/a	n/a
21	POLR2A	chr1:151318087-151320713	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:151318867-151319868	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:151318605-151320783	Raji	blood:	n/a	n/a
24	RFX5	chr1:151318550-151320829	Hela-S3	cervix:	n/a	chr1:151319898-151319907
25	CREB1	chr1:151318702-151320458	GM12878	blood:	n/a	n/a
26	RFX5	chr1:151318094-151320965	SK-N-SH	brain:	n/a	chr1:151319898-151319907
27	RCOR1	chr1:151318430-151320246	GM12878	blood:	n/a	n/a
28	RELA	chr1:151318858-151320459	GM19193	blood:	n/a	n/a
29	POLR2A	chr1:151318058-151320937	GM12892	blood:	n/a	n/a
30	NFIC	chr1:151318923-151320460	GM12878	blood:	n/a	n/a
31	CHD1	chr1:151318917-151320357	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAZ	chr1:151318573-151320317	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:151318171-151319893	GM12891	blood:	n/a	n/a
34	RELA	chr1:151318767-151320450	GM12891	blood:	n/a	n/a
35	POLR2A	chr1:151318038-151320981	GM12892	blood:	n/a	n/a
36	WRNIP1	chr1:151318146-151320436	GM12878	blood:	n/a	n/a
37	RUNX3	chr1:151318926-151320594	GM12878	blood:	n/a	n/a
38	CHD2	chr1:151318429-151320306	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:151317995-151320902	GM12878	blood:	n/a	n/a
40	MTA3	chr1:151318132-151319768	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:151318123-151318936	H1-hESC	embryonic stem cell:	n/a	n/a
42	MTA3	chr1:151318095-151320989	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:151318093-151319790	GM12891	blood:	n/a	n/a
44	STAT5A	chr1:151318802-151320444	GM12878	blood:	n/a	chr1:151319417-151319429 chr1:151319673-151319684 chr1:151318852-151318864 chr1:151318911-151318922

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151258574..151260250-chr1:151316879..151319085,2	MCF-7	breast:
2	chr1:151166423..151168363-chr1:151318010..151319809,2	MCF-7	breast:
3	chr1:151298559..151302678-chr1:151316998..151321426,11	MCF-7	breast:
4	chr1:151317602..151320403-chr1:151337333..151341038,5	MCF-7	breast:
5	chr1:151316826..151319751-chr1:151342092..151344070,3	MCF-7	breast:
6	chr1:151298650..151301104-chr1:151317671..151320176,4	MCF-7	breast:
7	chr1:151297227..151300315-chr1:151316951..151319680,4	K562	blood:
8	1:151309061-151322694..1:151592347-151603110	GM12878	blood:
9	chr1:151318199..151320967-chr1:151371516..151373553,2	K562	blood:
10	chr1:151264932..151267959-chr1:151318358..151320538,3	MCF-7	breast:
11	chr1:151317711..151320188-chr1:151340050..151342553,3	K562	blood:
12	chr1:151298409..151301460-chr1:151318358..151322178,4	K562	blood:
13	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
14	chr1:151253402..151256437-chr1:151318501..151320102,3	MCF-7	breast:
15	chr1:151253871..151258133-chr1:151311236..151320814,17	K562	blood:
16	1:151171193-151178589..1:151309061-151322694	Hela-S3	cervix:
17	chr1:151253042..151255866-chr1:151318395..151322175,4	K562	blood:
18	chr1:151317450..151322791-chr1:151370457..151374000,10	MCF-7	breast:
19	chr1:151317584..151319682-chr1:151339209..151341519,2	MCF-7	breast:
20	chr1:151317585..151319121-chr1:151341611..151344384,2	MCF-7	breast:
21	chr1:151252248..151255623-chr1:151318407..151321879,5	MCF-7	breast:

No data

Variant related genes	Relation type
RFX5	TF binding region
ENSG00000237976	TF binding region
ENSG00000143398	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000143393	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151313800-151319000	Weak transcription	Psoas Muscle	Psoas
2	chr1:151316400-151319000	Weak transcription	Left Ventricle	heart
3	chr1:151317000-151319000	Weak transcription	Right Ventricle	heart
4	chr1:151317200-151319200	Weak transcription	Small Intestine	intestine
5	chr1:151317800-151319200	Weak transcription	Ovary	ovary
6	chr1:151318200-151319000	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr1:151318200-151319200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr1:151318200-151319200	Enhancers	Fetal Heart	heart
9	chr1:151318200-151319200	Flanking Active TSS	HUVEC	blood vessel
10	chr1:151318200-151319400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:151318400-151319000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:151318400-151319000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:151318400-151319000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
14	chr1:151318400-151319000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:151318400-151319000	Enhancers	Aorta	Aorta
16	chr1:151318400-151319000	Enhancers	Liver	Liver
17	chr1:151318400-151319000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr1:151318400-151319000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:151318400-151319000	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr1:151318400-151319000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr1:151318400-151319000	Enhancers	Placenta	Placenta
22	chr1:151318400-151319000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:151318400-151319000	Enhancers	Stomach Mucosa	stomach
24	chr1:151318400-151319200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr1:151318400-151319200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:151318400-151319200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:151318400-151319200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:151318400-151319200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:151318400-151319200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:151318400-151319200	Flanking Active TSS	Fetal Brain Male	brain
31	chr1:151318400-151319200	Flanking Active TSS	NH-A	brain
32	chr1:151318400-151319200	Transcr. at gene 5' and 3'	NHLF	lung
33	chr1:151318400-151319400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:151318400-151319400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:151318600-151319000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:151318600-151319000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:151318600-151319000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:151318600-151319000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:151318600-151319000	Flanking Active TSS	Colonic Mucosa	Colon
40	chr1:151318600-151319000	Flanking Active TSS	Fetal Brain Female	brain
41	chr1:151318600-151319000	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr1:151318600-151319200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:151318600-151319200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:151318600-151319200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr1:151318600-151319200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:151318600-151319200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:151318600-151319200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:151318600-151319200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:151318600-151319200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr1:151318600-151319200	Flanking Active TSS	Fetal Muscle Leg	muscle

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