Variant report

Variant	rs114745143
Chromosome Location	chr1:221915720-221915721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:221915182-221915965	MCF10A-Er-Src	breast:	n/a	n/a
2	SP1	chr1:221915156-221915946	HepG2	liver:	n/a	chr1:221915502-221915523 chr1:221915551-221915572
3	PBX3	chr1:221915124-221915983	SK-N-SH	brain:	n/a	chr1:221915489-221915509
4	ATF2	chr1:221914976-221917478	GM12878	blood:	n/a	n/a
5	MAX	chr1:221914927-221916836	MCF-7	breast:	n/a	chr1:221916101-221916110 chr1:221916100-221916110
6	RAD21	chr1:221913441-221917304	IMR90	lung:	n/a	chr1:221916643-221916657 chr1:221915692-221915706
7	TAF1	chr1:221915151-221915968	PFSK-1	brain:	n/a	n/a
8	CTBP2	chr1:221914861-221916839	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF2	chr1:221915101-221916349	Hela-S3	cervix:	n/a	chr1:221916086-221916102
10	UBTF	chr1:221915704-221916886	K562	blood:	n/a	n/a
11	USF1	chr1:221915545-221915767	SK-N-SH_RA	brain:	n/a	n/a
12	RAD21	chr1:221915014-221915969	MCF-7	breast:	n/a	chr1:221915692-221915706
13	POLR2A	chr1:221915038-221916863	GM12878	blood:	n/a	n/a
14	CHD2	chr1:221914975-221917455	GM12878	blood:	n/a	chr1:221916212-221916222
15	POLR2A	chr1:221913461-221917502	GM18526	blood:	n/a	n/a
16	JUND	chr1:221913430-221916491	SK-N-SH	brain:	n/a	chr1:221915656-221915665 chr1:221916021-221916035 chr1:221916217-221916226 chr1:221915505-221915514 chr1:221916221-221916230 chr1:221914973-221914982
17	POLR2A	chr1:221914999-221916963	Hela-S3	cervix:	n/a	n/a
18	ZNF143	chr1:221915207-221916891	H1-hESC	embryonic stem cell:	n/a	chr1:221916190-221916208 chr1:221916381-221916399
19	POLR2A	chr1:221913364-221917603	GM12892	blood:	n/a	n/a
20	ZKSCAN1	chr1:221914986-221916519	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr1:221915044-221916003	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:221913521-221916519	K562	blood:	n/a	n/a
23	SP4	chr1:221914939-221915961	H1-hESC	embryonic stem cell:	n/a	chr1:221915465-221915481 chr1:221915579-221915595 chr1:221914970-221914986 chr1:221915565-221915581
24	CHD1	chr1:221914149-221917620	GM12878	blood:	n/a	chr1:221916212-221916222
25	RFX5	chr1:221913575-221917269	SK-N-SH	brain:	n/a	chr1:221915670-221915679 chr1:221917085-221917094
26	BCLAF1	chr1:221915602-221917461	GM12878	blood:	n/a	chr1:221916273-221916286 chr1:221916645-221916658 chr1:221915692-221915705
27	RAD21	chr1:221914629-221916956	SK-N-SH_RA	brain:	n/a	chr1:221916643-221916657 chr1:221915692-221915706
28	POLR2A	chr1:221914185-221916766	H1-neurons	neurons:	n/a	n/a
29	FOS	chr1:221915318-221916050	K562	blood:	n/a	chr1:221915656-221915665 chr1:221916021-221916035 chr1:221915505-221915514
30	CUX1	chr1:221914806-221916124	K562	blood:	n/a	n/a
31	TBP	chr1:221915193-221916503	Hela-S3	cervix:	n/a	n/a
32	IRF1	chr1:221915012-221915916	K562	blood:	n/a	chr1:221915433-221915443 chr1:221915433-221915447 chr1:221915581-221915595 chr1:221915669-221915678 chr1:221915432-221915444
33	MYC	chr1:221915709-221915841	MCF-7	breast:	n/a	n/a
34	TCF3	chr1:221915507-221916576	GM12878	blood:	n/a	n/a
35	GATA3	chr1:221915008-221915889	T-47D	breast:	n/a	n/a
36	TCF12	chr1:221915247-221915882	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:221909168-221918546	GM12878	blood:	n/a	n/a
38	STAT3	chr1:221915069-221915974	Hela-S3	cervix:	n/a	chr1:221915843-221915855 chr1:221915432-221915443
39	HEY1	chr1:221915103-221916231	K562	blood:	n/a	chr1:221915693-221915708 chr1:221915698-221915713
40	SIN3AK20	chr1:221915599-221916189	K562	blood:	n/a	n/a
41	PAX5	chr1:221915384-221915919	GM12878	blood:	n/a	n/a
42	CREB1	chr1:221915009-221916023	K562	blood:	n/a	n/a
43	NR2F2	chr1:221915462-221916049	MCF-7	breast:	n/a	n/a
44	FOXM1	chr1:221915487-221915981	MCF-7	breast:	n/a	n/a
45	RUNX3	chr1:221914861-221916544	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:221915207-221916325	HepG2	liver:	n/a	n/a
47	EP300	chr1:221915276-221916369	GM12878	blood:	n/a	chr1:221915703-221915719 chr1:221916079-221916095
48	MAX	chr1:221915067-221917253	Hela-S3	cervix:	n/a	chr1:221916895-221916904 chr1:221916101-221916110 chr1:221916100-221916110
49	SIN3AK20	chr1:221915085-221915921	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr1:221915281-221916880	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:221915688..221916409-chr2:62650123..62650945,2	K562	blood:
2	chr1:221882652..221891989-chr1:221912814..221917285,15	K562	blood:
3	chr1:221915687..221916241-chr15:75931897..75932605,2	Hela-S3	cervix:
4	chr1:221914930..221915875-chr7:54826862..54827555,2	Hela-S3	cervix:
5	chr1:221886657..221890286-chr1:221915663..221918002,3	MCF-7	breast:
6	chr1:221914898..221917139-chr1:222150225..222152993,2	MCF-7	breast:
7	chr1:221915716..221917980-chr1:222052338..222055276,2	MCF-7	breast:

Variant related genes	Relation type
DUSP10	TF binding region
ENSG00000132432	Chromatin interaction
ENSG00000143507	Chromatin interaction
ENSG00000238042	Chromatin interaction
ENSG00000177971	Chromatin interaction
ENSG00000234707	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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3423401	chr1:221915354-221917902	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr1:221911400-221916800	Active TSS	Brain Anterior Caudate	brain
2	chr1:221911600-221917200	Active TSS	Brain Angular Gyrus	brain
3	chr1:221911800-221916800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:221912200-221916800	Active TSS	Colon Smooth Muscle	Colon
5	chr1:221912400-221916800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:221912800-221917000	Active TSS	Brain Hippocampus Middle	brain
7	chr1:221912800-221917000	Active TSS	Brain Substantia Nigra	brain
8	chr1:221912800-221917200	Active TSS	HSMMtube	muscle
9	chr1:221913000-221916600	Active TSS	Fetal Muscle Trunk	muscle
10	chr1:221913000-221917400	Active TSS	Brain Cingulate Gyrus	brain
11	chr1:221913200-221916000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:221913200-221916800	Active TSS	Fetal Brain Female	brain
13	chr1:221913200-221917000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:221913200-221917000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:221913200-221917000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:221913200-221917000	Active TSS	NHLF	lung
17	chr1:221913200-221917400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:221913400-221917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:221913400-221917000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:221913400-221917000	Active TSS	NHDF-Ad	bronchial
21	chr1:221913400-221917400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:221913600-221916600	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:221913600-221916800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:221913600-221916800	Active TSS	Liver	Liver
25	chr1:221913600-221916800	Active TSS	HMEC	breast
26	chr1:221913600-221916800	Active TSS	NH-A	brain
27	chr1:221913600-221917000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:221913600-221917000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:221913600-221917000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:221913600-221917000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr1:221913600-221917200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:221913600-221917200	Active TSS	Right Atrium	heart
33	chr1:221913800-221916800	Active TSS	Rectal Smooth Muscle	rectum
34	chr1:221913800-221916800	Active TSS	HSMM	muscle
35	chr1:221913800-221917000	Active TSS	GM12878-XiMat	blood
36	chr1:221914000-221916200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:221914000-221917000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:221914000-221917000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:221914000-221917000	Active TSS	Ovary	ovary
40	chr1:221914000-221917000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr1:221914000-221917200	Active TSS	Psoas Muscle	Psoas
42	chr1:221914200-221916000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:221914200-221916600	Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:221914200-221916600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:221914200-221916600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:221914200-221916600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:221914200-221916800	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr1:221914200-221916800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:221914200-221916800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:221914200-221916800	Active TSS	Small Intestine	intestine

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