Variant report

Variant	rs113103937
Chromosome Location	chr1:45097399-45097400
allele	C/G
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	POLR2A	chr1:45097255-45097874	H1-neurons	neurons:	n/a	n/a
2	TAF7	chr1:45097258-45097878	K562	blood:	n/a	n/a
3	ELF1	chr1:45097367-45097743	A549	lung:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
4	CREB1	chr1:45097025-45098290	HepG2	liver:	n/a	n/a
5	BCLAF1	chr1:45097250-45097990	GM12878	blood:	n/a	chr1:45097582-45097591 chr1:45097428-45097441
6	POLR2A	chr1:45096921-45098491	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr1:45097127-45098085	GM12878	blood:	n/a	n/a
8	RUNX3	chr1:45097013-45097825	GM12878	blood:	n/a	n/a
9	NR2F2	chr1:45096374-45097760	K562	blood:	n/a	chr1:45097595-45097610
10	MXI1	chr1:45097176-45097641	K562	blood:	n/a	n/a
11	MAX	chr1:45097216-45098369	SK-N-SH	brain:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
12	TCF3	chr1:45097307-45097955	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:45097258-45098326	K562	blood:	n/a	n/a
14	POLR2A	chr1:45097025-45098300	NB4	blood:	n/a	n/a
15	SIN3AK20	chr1:45097120-45098041	MCF-7	breast:	n/a	n/a
16	FOSL2	chr1:45097281-45098111	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:45096860-45098371	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:45096855-45098361	GM12891	blood:	n/a	n/a
19	YY1	chr1:45097032-45098059	GM12891	blood:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658 chr1:45097390-45097404
20	POU2F2	chr1:45097321-45097990	GM12891	blood:	n/a	n/a
21	MAZ	chr1:45097030-45098696	K562	blood:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
22	GATA2	chr1:45097090-45098078	SH-SY5Y	brain:	n/a	chr1:45097406-45097415 chr1:45097297-45097306
23	POLR2A	chr1:45097000-45098122	HepG2	liver:	n/a	n/a
24	MYC	chr1:45097093-45098094	A549	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
25	POU2F2	chr1:45097153-45098063	GM12891	blood:	n/a	n/a
26	POLR2A	chr1:45096740-45098410	GM12891	blood:	n/a	n/a
27	TAF7	chr1:45097277-45098205	H1-hESC	embryonic stem cell:	n/a	n/a
28	EGR1	chr1:45097054-45098313	K562	blood:	n/a	chr1:45097578-45097591 chr1:45097578-45097588 chr1:45097575-45097589 chr1:45097573-45097595 chr1:45097579-45097588 chr1:45097578-45097591
29	POLR2A	chr1:45096794-45098706	K562	blood:	n/a	n/a
30	TAF1	chr1:45097256-45098071	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:45097291-45098159	SK-N-MC	brain:	n/a	n/a
32	MAZ	chr1:45096901-45099230	IMR90	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
33	POLR2A	chr1:45097299-45098368	U87	brain:	n/a	n/a
34	POLR2A	chr1:45097140-45098248	A549	lung:	n/a	n/a
35	MAX	chr1:45097015-45098392	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
36	POLR2A	chr1:45096944-45098177	K562	blood:	n/a	n/a
37	POLR2A	chr1:45097358-45098286	Gliobla	brain:	n/a	n/a
38	ELF1	chr1:45097174-45097883	MCF-7	breast:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
39	MYC	chr1:45097068-45098013	K562	blood:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
40	REST	chr1:45097381-45097922	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr1:45096972-45098404	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
42	YY1	chr1:45097169-45098282	HCT-116	colon:	n/a	chr1:45097577-45097591 chr1:45097580-45097591 chr1:45097580-45097589 chr1:45097638-45097658 chr1:45097390-45097404
43	ELF1	chr1:45097231-45098085	K562	blood:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
44	BHLHE40	chr1:45097185-45098093	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638
45	MYC	chr1:45097223-45098020	K562	blood:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
46	POLR2A	chr1:45097019-45098438	Hela-S3	cervix:	n/a	n/a
47	ELF1	chr1:45097096-45098346	GM12878	blood:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
48	ETS1	chr1:45097304-45097949	GM12878	blood:	n/a	chr1:45097580-45097591
49	CHD1	chr1:45097221-45098095	GM12878	blood:	n/a	chr1:45097389-45097399
50	POLR2A	chr1:45097090-45098063	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45097094..45097610-chr3:152879896..152880538,2	Hela-S3	cervix:
2	chr1:44818922..44822604-chr1:45096121..45099112,6	K562	blood:
3	chr1:45089432..45094163-chr1:45095736..45099125,6	MCF-7	breast:
4	chr1:44677773..44680547-chr1:45095385..45099072,4	K562	blood:
5	chr1:45097084..45097952-chr10:103578351..103578852,2	Hela-S3	cervix:
6	chr1:45077147..45081258-chr1:45096476..45100107,4	MCF-7	breast:
7	chr1:45096767..45097715-chr13:52585858..52586559,2	NB4	blood:
8	chr1:44676967..44680043-chr1:45097059..45099100,3	K562	blood:
9	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
10	chr1:45097288..45098193-chr12:49110421..49111318,2	HCT-116	colon:
11	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
12	chr1:45095364..45099259-chr1:45185766..45189852,13	K562	blood:
13	chr1:45096334..45099417-chr1:45195073..45197438,5	K562	blood:
14	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
15	chr1:44482218..44484038-chr1:45097268..45099139,2	K562	blood:
16	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
17	chr1:45097355..45098136-chr19:3572542..3573373,2	Hela-S3	cervix:
18	chr1:44440424..44442164-chr1:45096404..45098062,2	K562	blood:
19	chr1:45097395..45098344-chr11:8703634..8704499,2	NB4	blood:
20	chr1:45097189..45098175-chr2:101618808..101619704,2	HCT-116	colon:
21	chr1:45096002..45100159-chr1:45110119..45116077,6	MCF-7	breast:
22	chr1:45096122..45099489-chr1:45284877..45287072,3	K562	blood:

Variant related genes	Relation type
RNF220	TF binding region
ENSG00000126106	Chromatin interaction
ENSG00000064961	Chromatin interaction
ENSG00000117410	Chromatin interaction
ENSG00000181467	Chromatin interaction
ENSG00000226009	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000198408	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000117419	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000178028	Chromatin interaction
ENSG00000196517	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000253710	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
8	esv3341980	chr1:45097165-45099063	Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	23 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	chr1:45096600-45097400	Flanking Active TSS	Dnd41	blood
2	chr1:45096600-45097400	Flanking Active TSS	K562	blood
3	chr1:45096800-45097400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:45096800-45097400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:45096800-45097400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:45096800-45097400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:45096800-45097400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:45096800-45097400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:45096800-45097400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr1:45096800-45097400	Flanking Active TSS	GM12878-XiMat	blood
11	chr1:45096800-45097400	Flanking Active TSS	Hela-S3	cervix
12	chr1:45096800-45097600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr1:45096800-45097600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:45096800-45098200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:45096800-45098400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:45096800-45098400	Active TSS	Fetal Kidney	kidney
17	chr1:45096800-45098400	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:45096800-45099000	Active TSS	A549	lung
19	chr1:45097000-45097400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:45097000-45097400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:45097000-45097400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:45097000-45097400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:45097000-45097400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:45097000-45097400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:45097000-45097400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr1:45097000-45097400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr1:45097000-45097400	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr1:45097000-45097400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr1:45097000-45097400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr1:45097000-45097400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:45097000-45097400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:45097000-45097400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:45097000-45097400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:45097000-45097400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:45097000-45097400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:45097000-45097400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:45097000-45097400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr1:45097000-45097400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr1:45097000-45097400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:45097000-45097400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:45097000-45097400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:45097000-45097400	Flanking Active TSS	Liver	Liver
43	chr1:45097000-45097400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr1:45097000-45097400	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr1:45097000-45097400	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr1:45097000-45097400	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr1:45097000-45097400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr1:45097000-45097400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:45097000-45097400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:45097000-45097400	Flanking Active TSS	Colonic Mucosa	Colon

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