Variant report

Variant	rs138147233
Chromosome Location	chr14:105445037-105445038
allele	G/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	ZBTB7A	chr14:105444368-105445307	K562	blood:	n/a	chr14:105445059-105445068 chr14:105445194-105445205
2	ZBTB7A	chr14:105444913-105445120	HepG2	liver:	n/a	chr14:105445059-105445068
3	CTCF	chr14:105444920-105445070	HepG2	liver:	n/a	n/a
4	IRF1	chr14:105444628-105445093	K562	blood:	n/a	chr14:105444829-105444838 chr14:105444759-105444773
5	MAZ	chr14:105444215-105445372	IMR90	lung:	n/a	chr14:105445203-105445212
6	MAX	chr14:105445031-105445310	K562	blood:	n/a	chr14:105445203-105445212
7	HNF4A	chr14:105444792-105445107	HepG2	liver:	n/a	chr14:105444915-105444930 chr14:105444921-105444929 chr14:105444916-105444930 chr14:105444915-105444930
8	MAX	chr14:105443986-105445690	HepG2	liver:	n/a	chr14:105445203-105445212 chr14:105445577-105445587
9	POLR2A	chr14:105444485-105445096	HEK293	kidney:	n/a	n/a
10	NFYA	chr14:105444623-105445394	Hela-S3	cervix:	n/a	chr14:105444828-105444838 chr14:105444821-105444839 chr14:105444825-105444840 chr14:105444825-105444840
11	ZBTB7A	chr14:105444658-105445527	ECC-1	luminal epithelium:	n/a	chr14:105445059-105445068 chr14:105445194-105445205
12	NFYB	chr14:105444585-105445322	K562	blood:	n/a	chr14:105444828-105444838 chr14:105444825-105444840 chr14:105444827-105444842 chr14:105444825-105444840
13	MXI1	chr14:105443473-105447213	SK-N-SH	brain:	n/a	n/a
14	ZBTB7A	chr14:105443899-105445767	ECC-1	luminal epithelium:	n/a	chr14:105445059-105445068 chr14:105444093-105444100 chr14:105445194-105445205
15	POLR2A	chr14:105444222-105445037	K562	blood:	n/a	n/a
16	POLR2A	chr14:105444934-105445173	HepG2	liver:	n/a	n/a

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	chr14:105444894..105446599-chr14:105520468..105523261,2	MCF-7	breast:
5	chr14:105440890..105445623-chr14:105485614..105489562,6	MCF-7	breast:
6	chr14:105444640..105445585-chr5:149736965..149737755,2	Hela-S3	cervix:
7	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
8	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
9	chr14:105218537..105220486-chr14:105444127..105446003,2	MCF-7	breast:
10	chr14:105444730..105447554-chr14:105478549..105481250,3	MCF-7	breast:
11	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
12	chr14:105389558..105391968-chr14:105443207..105445217,2	MCF-7	breast:
13	chr14:105443512..105446839-chr14:105449245..105453481,5	K562	blood:
14	chr14:105444693..105446444-chr14:105485592..105488194,3	K562	blood:
15	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:

Variant related genes	Relation type
AHNAK2	TF binding region
ENSG00000185024	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000166428	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000140104	Chromatin interaction
ENSG00000070814	Chromatin interaction
ENSG00000183484	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000132141	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000179627	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:106 , 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	chr14:105444000-105445200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:105444000-105445200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:105444000-105445200	Active TSS	K562	blood
10	chr14:105444000-105445400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr14:105444000-105445400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr14:105444000-105445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:105444200-105445200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:105444200-105445200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:105444200-105445200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:105444200-105445200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:105444200-105445200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr14:105444200-105445200	Active TSS	Psoas Muscle	Psoas
19	chr14:105444200-105445400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr14:105444200-105445400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr14:105444200-105445800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr14:105444400-105445200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr14:105444400-105445200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr14:105444400-105445200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:105444400-105445200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:105444400-105445200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:105444400-105445200	Active TSS	Brain Anterior Caudate	brain
28	chr14:105444400-105445200	Active TSS	Left Ventricle	heart
29	chr14:105444400-105445200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr14:105444400-105445200	Active TSS	Right Atrium	heart
31	chr14:105444400-105445200	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr14:105444400-105445200	Active TSS	HSMM	muscle
33	chr14:105444400-105445200	Active TSS	NHLF	lung
34	chr14:105444400-105445400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:105444400-105445400	Enhancers	Primary B cells from cord blood	blood
36	chr14:105444400-105445400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:105444400-105445400	Active TSS	Fetal Brain Female	brain
38	chr14:105444400-105445800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:105444400-105446000	Weak transcription	Gastric	stomach
40	chr14:105444400-105446200	Weak transcription	NHEK	skin
41	chr14:105444600-105445200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:105444600-105445200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:105444600-105445200	Enhancers	Liver	Liver
44	chr14:105444600-105445200	Active TSS	Ovary	ovary
45	chr14:105444600-105445200	Enhancers	HUVEC	blood vessel
46	chr14:105444600-105445400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:105444600-105445400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:105444600-105445400	Active TSS	Brain Cingulate Gyrus	brain
49	chr14:105444600-105445400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:105444600-105445600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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