Variant report

Variant	rs557890645
Chromosome Location	chr14:105444797-105444798
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	ZBTB7A	chr14:105444368-105445307	K562	blood:	n/a	chr14:105445059-105445068 chr14:105445194-105445205
2	MAX	chr14:105441869-105444972	A549	lung:	n/a	chr14:105443049-105443059 chr14:105443248-105443258
3	MAX	chr14:105444151-105444880	K562	blood:	n/a	n/a
4	POLR2A	chr14:105444634-105444816	H1-hESC	embryonic stem cell:	n/a	n/a
5	HEY1	chr14:105444509-105444829	HepG2	liver:	n/a	chr14:105444660-105444675 chr14:105444680-105444695 chr14:105444643-105444658 chr14:105444651-105444666 chr14:105444779-105444794
6	POLR2A	chr14:105444055-105444944	Hela-S3	cervix:	n/a	n/a
7	YY1	chr14:105444605-105444797	HCT-116	colon:	n/a	chr14:105444643-105444654 chr14:105444681-105444692 chr14:105444637-105444651
8	MXI1	chr14:105444658-105444858	HepG2	liver:	n/a	n/a
9	TAF1	chr14:105444545-105444928	SK-N-SH	brain:	n/a	n/a
10	MYC	chr14:105443944-105444990	A549	lung:	n/a	n/a
11	POLR2A	chr14:105444398-105444842	Hela-S3	cervix:	n/a	n/a
12	IRF1	chr14:105444628-105445093	K562	blood:	n/a	chr14:105444829-105444838 chr14:105444759-105444773
13	POLR2A	chr14:105443519-105444879	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:105444523-105444980	K562	blood:	n/a	n/a
15	RFX5	chr14:105444671-105444895	Hela-S3	cervix:	n/a	chr14:105444828-105444837
16	POLR2A	chr14:105444526-105444824	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:105444534-105444881	MCF10A-Er-Src	breast:	n/a	n/a
18	TAF1	chr14:105444543-105444853	Hela-S3	cervix:	n/a	n/a
19	TAF1	chr14:105444540-105444852	SK-N-SH	brain:	n/a	n/a
20	TAF1	chr14:105444412-105444956	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAZ	chr14:105444215-105445372	IMR90	lung:	n/a	chr14:105445203-105445212
22	TBP	chr14:105444543-105444899	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr14:105444535-105444863	IMR90	lung:	n/a	n/a
24	POLR2A	chr14:105444536-105444866	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr14:105444665-105444820	Hela-S3	cervix:	n/a	n/a
26	HEY1	chr14:105444570-105444808	K562	blood:	n/a	chr14:105444660-105444675 chr14:105444680-105444695 chr14:105444643-105444658 chr14:105444651-105444666 chr14:105444779-105444794
27	POLR2A	chr14:105444384-105444832	PANC-1	pancreas:	n/a	n/a
28	YY1	chr14:105444454-105444853	HepG2	liver:	n/a	chr14:105444643-105444654 chr14:105444681-105444692 chr14:105444637-105444651
29	NFYB	chr14:105444624-105444965	Hela-S3	cervix:	n/a	chr14:105444828-105444838 chr14:105444825-105444840 chr14:105444827-105444842 chr14:105444825-105444840
30	NFYB	chr14:105444630-105444922	GM12878	blood:	n/a	chr14:105444828-105444838 chr14:105444825-105444840 chr14:105444827-105444842 chr14:105444825-105444840
31	POLR2A	chr14:105444512-105444849	A549	lung:	n/a	n/a
32	POLR2A	chr14:105444411-105444843	A549	lung:	n/a	n/a
33	MYC	chr14:105444622-105444867	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr14:105444548-105444848	U87	brain:	n/a	n/a
35	TBP	chr14:105444612-105444899	Hela-S3	cervix:	n/a	n/a
36	TBP	chr14:105444571-105444853	HepG2	liver:	n/a	n/a
37	TBP	chr14:105444509-105444961	K562	blood:	n/a	n/a
38	POLR2A	chr14:105444480-105444844	K562	blood:	n/a	n/a
39	POLR2A	chr14:105444359-105444862	HepG2	liver:	n/a	n/a
40	POLR2A	chr14:105444430-105444844	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr14:105444448-105444867	HUVEC	blood vessel:	n/a	n/a
42	HNF4A	chr14:105444792-105445107	HepG2	liver:	n/a	chr14:105444915-105444930 chr14:105444921-105444929 chr14:105444916-105444930 chr14:105444915-105444930
43	TAF1	chr14:105444192-105444973	ECC-1	luminal epithelium:	n/a	n/a
44	TAF1	chr14:105444590-105444866	K562	blood:	n/a	n/a
45	TAF1	chr14:105444588-105444819	K562	blood:	n/a	n/a
46	RCOR1	chr14:105444705-105444833	Hela-S3	cervix:	n/a	n/a
47	TAF1	chr14:105444512-105444985	A549	lung:	n/a	n/a
48	TAF1	chr14:105444338-105444874	HepG2	liver:	n/a	n/a
49	MAX	chr14:105444321-105444817	K562	blood:	n/a	n/a
50	MAX	chr14:105443986-105445690	HepG2	liver:	n/a	chr14:105445203-105445212 chr14:105445577-105445587

No.	Distal block	Cell Line	Cell type
1	chr14:105444542..105445048-chr17:33307717..33308353,2	Hela-S3	cervix:
2	chr14:105444254..105445137-chr5:95998330..95998953,2	Hela-S3	cervix:
3	chr14:105397847..105399946-chr14:105442912..105445708,2	MCF-7	breast:
4	chr14:105440890..105445623-chr14:105485614..105489562,6	MCF-7	breast:
5	chr14:105444640..105445585-chr5:149736965..149737755,2	Hela-S3	cervix:
6	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
7	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
8	chr14:105218537..105220486-chr14:105444127..105446003,2	MCF-7	breast:
9	chr14:105444730..105447554-chr14:105478549..105481250,3	MCF-7	breast:
10	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
11	chr14:105389558..105391968-chr14:105443207..105445217,2	MCF-7	breast:
12	chr14:105443512..105446839-chr14:105449245..105453481,5	K562	blood:
13	chr14:105444693..105446444-chr14:105485592..105488194,3	K562	blood:
14	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

Variant related genes	Relation type
AHNAK2	TF binding region
ENSG00000070814	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000166428	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000179627	Chromatin interaction
ENSG00000132141	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000140104	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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	114 gene(s)	inside rSNPs	diseases
3	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
4	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv902419	chr14:105381763-105494262	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1049253	chr14:105384959-105471855	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv542228	chr14:105390569-105459912	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	nsv1036224	chr14:105404755-105470333	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv902420	chr14:105410183-105494262	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
15	nsv1438	chr14:105412728-105457581	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
17	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
20	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
23	esv3355872	chr14:105443532-105446080	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
24	esv3389914	chr14:105443857-105446155	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
25	esv3403786	chr14:105443932-105446780	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
26	esv3325583	chr14:105444107-105448405	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
27	esv3339159	chr14:105444307-105445655	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105433000-105445400	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr14:105438000-105446800	Enhancers	Lung	lung
3	chr14:105439600-105445400	Enhancers	Spleen	Spleen
4	chr14:105441800-105446800	Enhancers	Fetal Heart	heart
5	chr14:105443000-105445600	Enhancers	Fetal Brain Male	brain
6	chr14:105443600-105445200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:105443800-105445000	Active TSS	A549	lung
8	chr14:105444000-105444800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
9	chr14:105444000-105444800	Active TSS	Aorta	Aorta
10	chr14:105444000-105444800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr14:105444000-105444800	Flanking Active TSS	Pancreas	Pancrea
12	chr14:105444000-105445000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:105444000-105445000	Active TSS	Hela-S3	cervix
14	chr14:105444000-105445200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:105444000-105445200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:105444000-105445200	Active TSS	K562	blood
17	chr14:105444000-105445400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr14:105444000-105445400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr14:105444000-105445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:105444200-105444800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr14:105444200-105445000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:105444200-105445000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:105444200-105445000	Bivalent/Poised TSS	Thymus	Thymus
24	chr14:105444200-105445200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:105444200-105445200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:105444200-105445200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:105444200-105445200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:105444200-105445200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr14:105444200-105445200	Active TSS	Psoas Muscle	Psoas
30	chr14:105444200-105445400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr14:105444200-105445400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:105444200-105445800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:105444400-105444800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:105444400-105444800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:105444400-105444800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr14:105444400-105444800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr14:105444400-105444800	Active TSS	HMEC	breast
38	chr14:105444400-105445000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr14:105444400-105445000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr14:105444400-105445000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
41	chr14:105444400-105445000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:105444400-105445000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:105444400-105445000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:105444400-105445000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:105444400-105445000	Active TSS	Adipose Nuclei	Adipose
46	chr14:105444400-105445000	Active TSS	Brain Angular Gyrus	brain
47	chr14:105444400-105445000	Active TSS	Brain Germinal Matrix	brain
48	chr14:105444400-105445000	Active TSS	Brain Hippocampus Middle	brain
49	chr14:105444400-105445000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr14:105444400-105445000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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