Variant report

Variant	rs569693515
Chromosome Location	chr14:35343268-35343269
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	POLR2A	chr14:35342521-35343819	HepG2	liver:	n/a	n/a
2	SMC3	chr14:35342376-35343301	Hela-S3	cervix:	n/a	n/a
3	MYC	chr14:35342534-35345083	A549	lung:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
4	POU2F2	chr14:35342527-35344748	GM12878	blood:	n/a	chr14:35344689-35344704 chr14:35344044-35344056 chr14:35343643-35343655 chr14:35343665-35343677
5	CREB1	chr14:35342577-35343976	GM12878	blood:	n/a	n/a
6	ETS1	chr14:35342635-35343538	GM12878	blood:	n/a	chr14:35342952-35342963 chr14:35343506-35343517 chr14:35342846-35342857 chr14:35343226-35343239 chr14:35343224-35343238
7	POLR2A	chr14:35342544-35343473	H1-hESC	embryonic stem cell:	n/a	n/a
8	CCNT2	chr14:35342621-35344765	K562	blood:	n/a	chr14:35343163-35343172 chr14:35342824-35342833
9	CEBPD	chr14:35342661-35344717	HepG2	liver:	n/a	n/a
10	MYC	chr14:35342508-35343436	K562	blood:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
11	CTCF	chr14:35343180-35343330	GM12864	blood:	n/a	n/a
12	POLR2A	chr14:35342662-35343712	HUVEC	blood vessel:	n/a	n/a
13	YY1	chr14:35343133-35343916	GM12878	blood:	n/a	chr14:35343359-35343368 chr14:35343398-35343407 chr14:35343666-35343677 chr14:35343506-35343515 chr14:35343672-35343686 chr14:35343666-35343675
14	TAF1	chr14:35343249-35343553	GM12891	blood:	n/a	n/a
15	TAF1	chr14:35342397-35343828	GM12878	blood:	n/a	n/a
16	ZEB1	chr14:35343123-35343541	GM12878	blood:	n/a	n/a
17	ELF1	chr14:35342638-35343517	K562	blood:	n/a	chr14:35343506-35343515
18	TAF1	chr14:35342715-35343484	A549	lung:	n/a	n/a
19	PML	chr14:35342486-35343594	MCF-7	breast:	n/a	n/a
20	ATF2	chr14:35342054-35343587	GM12878	blood:	n/a	n/a
21	ETS1	chr14:35343149-35343516	K562	blood:	n/a	chr14:35343226-35343239 chr14:35343224-35343238
22	TCF12	chr14:35342547-35343588	ECC-1	luminal epithelium:	n/a	n/a
23	PAX5	chr14:35342521-35343742	GM12878	blood:	n/a	chr14:35342864-35342873
24	YY1	chr14:35342623-35344839	GM12878	blood:	n/a	chr14:35343978-35343987 chr14:35343359-35343368 chr14:35344308-35344322 chr14:35344311-35344325 chr14:35343978-35343989 chr14:35343398-35343407 chr14:35344733-35344742 chr14:35343666-35343677 chr14:35343506-35343515 chr14:35343672-35343686 chr14:35344042-35344051 chr14:35344048-35344059 chr14:35344037-35344051 chr14:35343666-35343675
25	POLR2A	chr14:35342267-35344127	SK-N-MC	brain:	n/a	n/a
26	RELA	chr14:35342496-35343804	GM18951	blood:	n/a	n/a
27	CTBP2	chr14:35342488-35343651	H1-hESC	embryonic stem cell:	n/a	n/a
28	RCOR1	chr14:35342571-35343593	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:35342399-35343564	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:35342335-35344858	GM12878	blood:	n/a	n/a
31	PML	chr14:35342100-35344995	GM12878	blood:	n/a	n/a
32	ZBTB7A	chr14:35342664-35344734	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr14:35342568-35343589	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr14:35342710-35343653	Gliobla	brain:	n/a	n/a
35	NFIC	chr14:35342047-35343584	GM12878	blood:	n/a	n/a
36	TAF1	chr14:35342571-35344898	ECC-1	luminal epithelium:	n/a	n/a
37	TBP	chr14:35342075-35343584	GM12878	blood:	n/a	n/a
38	BACH1	chr14:35342581-35344615	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr14:35342338-35344889	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr14:35342632-35343347	K562	blood:	n/a	n/a
41	TEAD4	chr14:35342779-35344799	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr14:35343220-35343370	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:35342207-35343786	GM12891	blood:	n/a	n/a
44	RELA	chr14:35342565-35343547	GM18505	blood:	n/a	n/a
45	GABPA	chr14:35342773-35343574	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:35342679-35344810	HEK293	kidney:	n/a	n/a
47	NFATC1	chr14:35342797-35343913	GM12878	blood:	n/a	n/a
48	MAX	chr14:35342230-35344933	HepG2	liver:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
49	TAL1	chr14:35342287-35343386	K562	blood:	n/a	n/a
50	BCL3	chr14:35342763-35343566	GM12878	blood:	n/a	chr14:35342864-35342873 chr14:35343360-35343369 chr14:35343392-35343401 chr14:35343505-35343514 chr14:35343041-35343054

No.	Distal block	Cell Line	Cell type
1	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
2	chr14:35341168..35344675-chr14:35590606..35593872,6	MCF-7	breast:
3	chr14:35341498..35344850-chr14:35591184..35593267,3	K562	blood:
4	chr14:35342451..35343400-chr17:40729277..40729849,2	Hela-S3	cervix:
5	chr14:35342553..35343377-chr3:71912429..71913454,3	Hela-S3	cervix:
6	chr14:35288901..35291358-chr14:35341201..35343506,2	MCF-7	breast:
7	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
8	chr14:35097894..35099748-chr14:35341381..35343942,2	K562	blood:
9	chr14:35331154..35334713-chr14:35340036..35344743,5	K562	blood:
10	chr14:35007550..35010317-chr14:35342022..35344512,2	K562	blood:
11	chr14:35342985..35344751-chr15:34393746..34395266,2	MCF-7	breast:
12	chr14:35341203..35346354-chr14:35872500..35877183,6	MCF-7	breast:
13	chr14:35342615..35344582-chr17:57913472..57916215,2	MCF-7	breast:
14	chr14:35342553..35343377-chrX:9259402..9260402,2	Hela-S3	cervix:
15	chr14:35342567..35345567-chr14:35590904..35592504,3	MCF-7	breast:
16	chr14:35239285..35241333-chr14:35342948..35344948,2	MCF-7	breast:
17	chr14:35342673..35343627-chr17:47785563..47786234,2	NB4	blood:
18	chr1:14951812..14952812-chr14:35342553..35343377,2	Hela-S3	cervix:
19	chr14:35342797..35343384-chr19:54704188..54705034,2	Hela-S3	cervix:
20	chr14:35343222..35344773-chr14:35872622..35874877,2	MCF-7	breast:
21	chr14:35096806..35099646-chr14:35341739..35344917,3	MCF-7	breast:
22	chr14:35341830..35343386-chr14:35514397..35517047,2	K562	blood:
23	chr14:35341151..35344721-chr14:35870913..35875092,3	K562	blood:
24	chr14:35342527..35343475-chr7:135636413..135636913,2	NB4	blood:
25	chr14:35007550..35010391-chr14:35343012..35345148,2	K562	blood:
26	chr14:35342831..35343425-chr5:72794141..72794641,2	NB4	blood:
27	chr11:3038063..3038681-chr14:35342889..35343402,2	MCF-7	breast:
28	chr14:35342738..35344659-chr14:35589687..35591484,2	K562	blood:
29	chr14:35327682..35333013-chr14:35342164..35345913,7	MCF-7	breast:
30	chr1:109967870..109970435-chr14:35342880..35344902,2	MCF-7	breast:
31	chr14:35341804..35343375-chr3:87276256..87277854,2	MCF-7	breast:
32	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
33	chr14:35342612..35346213-chr14:35514260..35516898,3	K562	blood:
34	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:
35	chr14:35310484..35315541-chr14:35341782..35344711,6	MCF-7	breast:
36	chr14:35326748..35329780-chr14:35341273..35343392,3	K562	blood:
37	chr14:35227474..35229033-chr14:35341739..35343496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258738	TF binding region
ENSG00000092020	Chromatin interaction
ENSG00000170889	Chromatin interaction
ENSG00000251726	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000129515	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000145741	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000143106	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000250751	Chromatin interaction
ENSG00000083937	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000131470	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000100890	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	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	esv3361541	chr14:35342726-35345574	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr14:35341400-35345400	Active TSS	GM12878-XiMat	blood
2	chr14:35341600-35343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:35341600-35343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:35341600-35345200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr14:35341600-35345400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:35341800-35343600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:35341800-35345000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:35341800-35345000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:35341800-35345000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:35341800-35345000	Active TSS	Fetal Kidney	kidney
11	chr14:35341800-35345000	Active TSS	Psoas Muscle	Psoas
12	chr14:35341800-35345000	Active TSS	NH-A	brain
13	chr14:35341800-35345000	Active TSS	NHLF	lung
14	chr14:35341800-35345200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:35341800-35345200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:35341800-35345200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:35341800-35345200	Active TSS	Stomach Smooth Muscle	stomach
18	chr14:35341800-35345200	Active TSS	Thymus	Thymus
19	chr14:35341800-35345200	Active TSS	HSMMtube	muscle
20	chr14:35341800-35345200	Active TSS	NHDF-Ad	bronchial
21	chr14:35342000-35343400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:35342000-35344600	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr14:35342000-35344800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:35342000-35344800	Active TSS	Adipose Nuclei	Adipose
25	chr14:35342000-35344800	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr14:35342000-35345000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:35342000-35345000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:35342000-35345000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:35342000-35345000	Active TSS	Primary T cells fromperipheralblood	blood
30	chr14:35342000-35345000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:35342000-35345000	Active TSS	Fetal Intestine Large	intestine
32	chr14:35342000-35345000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr14:35342000-35345000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr14:35342000-35345000	Active TSS	HSMM	muscle
35	chr14:35342000-35345200	Active TSS	Colon Smooth Muscle	Colon
36	chr14:35342000-35345200	Active TSS	Fetal Thymus	thymus
37	chr14:35342200-35344600	Active TSS	Brain Hippocampus Middle	brain
38	chr14:35342200-35344800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:35342200-35344800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr14:35342200-35344800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:35342200-35344800	Active TSS	Fetal Brain Female	brain
42	chr14:35342200-35344800	Active TSS	Small Intestine	intestine
43	chr14:35342200-35345000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr14:35342200-35345000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:35342200-35345000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr14:35342200-35345000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:35342200-35345000	Active TSS	Brain Angular Gyrus	brain
48	chr14:35342200-35345000	Active TSS	Brain Anterior Caudate	brain
49	chr14:35342200-35345000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:35342200-35345000	Active TSS	Brain Substantia Nigra	brain

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