Variant report

Variant	rs530175226
Chromosome Location	chr14:104028446-104028447
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	POLR2A	chr14:104028182-104029766	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:104028363-104029756	GM19193	blood:	n/a	n/a
3	POU2F2	chr14:104028019-104028556	GM12891	blood:	n/a	n/a
4	POLR2A	chr14:104028363-104029775	HepG2	liver:	n/a	n/a
5	TAF1	chr14:104028177-104029827	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr14:104028311-104029626	NB4	blood:	n/a	n/a
7	RCOR1	chr14:104028135-104028460	K562	blood:	n/a	n/a
8	POLR2A	chr14:104028406-104029751	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:104028038-104029632	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr14:104027813-104029763	HepG2	liver:	n/a	n/a
11	UBTF	chr14:104028311-104028563	K562	blood:	n/a	n/a
12	POLR2A	chr14:104027723-104029500	IMR90	lung:	n/a	n/a
13	POLR2A	chr14:104028220-104029493	GM12891	blood:	n/a	n/a
14	POLR2A	chr14:104028229-104029733	GM18951	blood:	n/a	n/a
15	E2F6	chr14:104028240-104029496	K562	blood:	n/a	chr14:104028917-104028928 chr14:104028673-104028688 chr14:104029236-104029245
16	POLR2A	chr14:104028116-104029075	U87	brain:	n/a	n/a
17	CTCF	chr14:104028300-104028450	GM12873	blood:	n/a	n/a
18	SPI1	chr14:104028237-104028542	GM12878	blood:	n/a	n/a
19	JUND	chr14:104028308-104029786	MCF-7	breast:	n/a	n/a
20	YY1	chr14:104028211-104029581	GM12892	blood:	n/a	chr14:104028385-104028399 chr14:104029236-104029245 chr14:104029027-104029038 chr14:104029239-104029248 chr14:104029234-104029248
21	MYC	chr14:104028059-104028542	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr14:104028347-104028572	A549	lung:	n/a	n/a
23	POLR2A	chr14:104028126-104029706	K562	blood:	n/a	n/a
24	MTA3	chr14:104028120-104028547	GM12878	blood:	n/a	n/a
25	UBTF	chr14:104028219-104029726	K562	blood:	n/a	n/a
26	POLR2A	chr14:104028072-104029209	GM12892	blood:	n/a	n/a
27	POLR2A	chr14:104027997-104029923	HUVEC	blood vessel:	n/a	n/a
28	MAX	chr14:104027988-104029903	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr14:104028065-104029756	GM12892	blood:	n/a	n/a
30	POLR2A	chr14:104028089-104029853	K562	blood:	n/a	n/a
31	POLR2A	chr14:104028049-104029813	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:104028110-104029079	U87	brain:	n/a	n/a
33	MXI1	chr14:104028198-104029807	HepG2	liver:	n/a	n/a
34	TFAP2A	chr14:104028374-104029968	Hela-S3	cervix:	n/a	chr14:104029549-104029564 chr14:104029518-104029533
35	POLR2A	chr14:104028345-104029701	ProgFib	skin:	n/a	n/a
36	EGR1	chr14:104028226-104029823	MCF-7	breast:	n/a	n/a
37	TAF1	chr14:104028421-104029088	A549	lung:	n/a	n/a
38	POLR2A	chr14:104028204-104029522	GM12891	blood:	n/a	n/a
39	SIN3A	chr14:104027720-104030129	H1-hESC	embryonic stem cell:	n/a	chr14:104028758-104028771 chr14:104028792-104028805 chr14:104028844-104028855 chr14:104028533-104028544 chr14:104028851-104028864 chr14:104029113-104029126 chr14:104029095-104029108
40	MAX	chr14:104028152-104028490	NB4	blood:	n/a	n/a
41	GTF2F1	chr14:104028335-104028468	Hela-S3	cervix:	n/a	n/a
42	SPI1	chr14:104027812-104028545	HL-60	blood:	n/a	chr14:104028025-104028038
43	POLR2A	chr14:104028206-104029667	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:104027673-104029763	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:104028070-104029710	SK-N-MC	brain:	n/a	n/a
46	SIN3AK20	chr14:104028035-104029746	SK-N-SH	brain:	n/a	n/a
47	WRNIP1	chr14:104027830-104028558	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:104028182-104029832	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr14:104028380-104028530	AG04449	skin:	n/a	n/a
50	POLR2A	chr14:104028329-104029666	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:104016689..104020988-chr14:104027518..104030448,6	MCF-7	breast:
3	chr14:103983696..103988397-chr14:104026059..104029809,6	K562	blood:
4	chr14:103992721..103998040-chr14:104027797..104030842,4	MCF-7	breast:
5	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
6	chr14:103799415..103801924-chr14:104027086..104029565,3	MCF-7	breast:
7	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:
8	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
9	chr14:103985364..103989946-chr14:104026445..104030227,8	MCF-7	breast:
10	chr14:104027061..104029959-chr14:104033088..104037337,3	K562	blood:
11	chr14:104027610..104029440-chr14:104145265..104147418,2	MCF-7	breast:
12	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
13	chr14:104027275..104029645-chr9:131939860..131941591,2	MCF-7	breast:
14	chr14:103995545..103997122-chr14:104028296..104030375,2	K562	blood:
15	chr14:104026767..104030601-chr14:104092111..104097061,5	MCF-7	breast:

Variant related genes	Relation type
APOPT1	TF binding region
ENSG00000256500	TF binding region
ENSG00000126215	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000258851	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000269963	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv976818	chr14:104023424-104029394	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	esv3389476	chr14:104028349-104030447	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 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	chr14:104027000-104028600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr14:104027200-104028600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:104027200-104028600	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr14:104027400-104028600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr14:104027400-104030600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:104027400-104030800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:104027400-104030800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:104027600-104028600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr14:104027600-104028600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:104027600-104028600	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr14:104027600-104028600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr14:104027600-104028600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr14:104027600-104030200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:104027600-104030200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:104027600-104030200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:104027600-104030400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:104027600-104030400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:104027600-104030400	Active TSS	Esophagus	oesophagus
19	chr14:104027600-104030600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:104027600-104030800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:104027600-104030800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:104027600-104030800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr14:104027600-104030800	Active TSS	NHLF	lung
24	chr14:104027800-104028600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr14:104027800-104028600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr14:104027800-104028600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:104027800-104028600	Flanking Active TSS	Liver	Liver
28	chr14:104027800-104028800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr14:104027800-104028800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:104027800-104029000	Active TSS	Right Atrium	heart
31	chr14:104027800-104029600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:104027800-104029600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:104027800-104029600	Active TSS	HepG2	liver
34	chr14:104027800-104029800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:104027800-104029800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:104027800-104030000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:104027800-104030000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:104027800-104030000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:104027800-104030000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:104027800-104030200	Active TSS	Gastric	stomach
41	chr14:104027800-104030200	Active TSS	GM12878-XiMat	blood
42	chr14:104027800-104030200	Active TSS	Hela-S3	cervix
43	chr14:104027800-104030400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:104027800-104030400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr14:104027800-104030400	Active TSS	Fetal Kidney	kidney
46	chr14:104027800-104030400	Active TSS	Ovary	ovary
47	chr14:104027800-104030400	Active TSS	HMEC	breast
48	chr14:104027800-104030600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr14:104027800-104030600	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr14:104027800-104030600	Active TSS	iPS-20b Cell Line	embryonic stem cell

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