Variant report

Variant	rs13329323
Chromosome Location	chr15:77926792-77926793
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	REST	chr15:77926754-77927020	SK-N-SH	brain:	n/a	chr15:77926998-77927011
2	CTCF	chr15:77926773-77927008	ECC-1	luminal epithelium:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
3	CTCF	chr15:77926641-77927205	MCF-7	breast:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
4	SMC3	chr15:77925473-77927244	SK-N-SH	brain:	n/a	chr15:77925870-77925880 chr15:77925948-77925962 chr15:77925912-77925922 chr15:77926954-77926964 chr15:77926950-77926958 chr15:77926950-77926964 chr15:77926007-77926021
5	ZNF263	chr15:77923899-77927072	HEK293-T-REx	kidney:	n/a	chr15:77924758-77924767 chr15:77926052-77926061 chr15:77925322-77925331 chr15:77926338-77926347
6	RAD21	chr15:77925740-77927127	H1-hESC	embryonic stem cell:	n/a	chr15:77926011-77926021 chr15:77925950-77925963 chr15:77926006-77926025 chr15:77926949-77926968 chr15:77926952-77926965 chr15:77925952-77925964 chr15:77926007-77926021 chr15:77925947-77925966 chr15:77925870-77925880 chr15:77926009-77926022 chr15:77925994-77926008 chr15:77926954-77926964 chr15:77926011-77926023
7	HCFC1	chr15:77926779-77927043	K562	blood:	n/a	n/a
8	MAZ	chr15:77926770-77926981	GM12878	blood:	n/a	n/a
9	SPI1	chr15:77926728-77927075	HL-60	blood:	n/a	n/a
10	CTCF	chr15:77926735-77927141	K562	blood:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
11	MXI1	chr15:77925637-77926993	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr15:77925725-77927051	H1-hESC	embryonic stem cell:	n/a	chr15:77926548-77926559
13	MAX	chr15:77926733-77927094	K562	blood:	n/a	chr15:77927020-77927030
14	ZNF143	chr15:77926785-77927055	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr15:77926786-77927035	HepG2	liver:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
16	MAZ	chr15:77926762-77927129	K562	blood:	n/a	chr15:77927020-77927030
17	CTCF	chr15:77926772-77927108	GM12892	blood:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
18	MAX	chr15:77926578-77927521	H1-hESC	embryonic stem cell:	n/a	chr15:77927020-77927030
19	CTCF	chr15:77925217-77927134	HCT-116	colon:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926951-77926964 chr15:77926007-77926028 chr15:77926344-77926353
20	TEAD4	chr15:77925695-77927069	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr15:77926778-77927080	K562	blood:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
22	MAX	chr15:77926676-77927175	H1-hESC	embryonic stem cell:	n/a	chr15:77927020-77927030
23	ARID3A	chr15:77926765-77927030	K562	blood:	n/a	n/a
24	CTCF	chr15:77926670-77927148	GM12878	blood:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
25	ZMIZ1	chr15:77926780-77927074	K562	blood:	n/a	n/a
26	CTCF	chr15:77926752-77927101	IMR90	lung:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
27	ZNF143	chr15:77926690-77927114	GM12878	blood:	n/a	chr15:77927084-77927103
28	CTCF	chr15:77926760-77926910	NHDF-neo	bronchial:	n/a	n/a
29	ZNF143	chr15:77926687-77927112	K562	blood:	n/a	chr15:77927084-77927103
30	ZNF143	chr15:77925145-77927535	H1-hESC	embryonic stem cell:	n/a	chr15:77925310-77925328 chr15:77927084-77927103 chr15:77927155-77927173 chr15:77926483-77926501
31	CHD2	chr15:77925542-77927058	H1-hESC	embryonic stem cell:	n/a	n/a
32	SPI1	chr15:77926673-77927026	HL-60	blood:	n/a	n/a
33	CTBP2	chr15:77925487-77927481	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr15:77926568-77927104	GM19238	blood:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
35	TEAD4	chr15:77925733-77927104	H1-hESC	embryonic stem cell:	n/a	n/a
36	WRNIP1	chr15:77926770-77926955	GM12878	blood:	n/a	n/a
37	SIN3A	chr15:77925513-77927021	H1-hESC	embryonic stem cell:	n/a	chr15:77926561-77926569
38	RAD21	chr15:77926781-77927062	K562	blood:	n/a	chr15:77926949-77926968 chr15:77926952-77926965 chr15:77926954-77926964
39	SPI1	chr15:77926774-77927016	K562	blood:	n/a	n/a
40	CTCF	chr15:77926643-77927083	H1-hESC	embryonic stem cell:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
41	CTCF	chr15:77926756-77927102	A549	lung:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
42	SPI1	chr15:77926759-77927109	GM12891	blood:	n/a	n/a
43	CTCF	chr15:77926788-77927066	H1-hESC	embryonic stem cell:	n/a	chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77926951-77926964
44	JUND	chr15:77925811-77926924	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr15:77924998-77927629	SK-N-SH	brain:	n/a	chr15:77926005-77926023 chr15:77925949-77925962 chr15:77925947-77925963 chr15:77926008-77926021 chr15:77926951-77926960 chr15:77926948-77926966 chr15:77926950-77926971 chr15:77925946-77925964 chr15:77925948-77925969 chr15:77926951-77926964 chr15:77926007-77926028 chr15:77926344-77926353
46	JUN	chr15:77926720-77926919	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr15:77926700-77926850	HAc	cerebellar:	n/a	n/a
48	RAD21	chr15:77925667-77927188	H1-hESC	embryonic stem cell:	n/a	chr15:77926011-77926021 chr15:77925950-77925963 chr15:77926006-77926025 chr15:77926949-77926968 chr15:77926952-77926965 chr15:77925952-77925964 chr15:77926007-77926021 chr15:77925947-77925966 chr15:77925870-77925880 chr15:77926009-77926022 chr15:77925994-77926008 chr15:77926954-77926964 chr15:77926011-77926023
49	POLR2A	chr15:77925097-77927030	H1-hESC	embryonic stem cell:	n/a	n/a
50	ELF1	chr15:77926751-77927016	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77925249..77927257-chr15:78113205..78115049,24	MCF-7	breast:
2	chr15:77925299..77927652-chr15:78112444..78114100,3	MCF-7	breast:
3	chr15:77925435..77927439-chr15:78112259..78115090,22	K562	blood:
4	chr15:77923251..77928296-chr15:78111448..78115771,8	MCF-7	breast:
5	chr15:77924601..77927275-chr15:77937272..77938910,2	K562	blood:
6	chr15:77925397..77928069-chr15:78112259..78116246,3	K562	blood:
7	chr15:77925072..77927787-chr15:78111223..78115888,59	MCF-7	breast:
8	chr15:77926698..77928808-chr15:77930384..77933338,2	K562	blood:
9	chr15:77924941..77926828-chr15:77932359..77934227,2	MCF-7	breast:
10	chr15:77925397..77927315-chr15:78112259..78115116,2	K562	blood:

Variant related genes	Relation type
LINGO1	TF binding region
ENSG00000259666	Chromatin interaction
ENSG00000169783	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11630768	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633639	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634778	0.87[ASN][1000 genomes]
rs11635239	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11638318	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855155	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329256	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16969027	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292415	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292416	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292417	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28374408	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28503184	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515899	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56717248	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56941158	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60886924	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74025333	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74025334	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74025342	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74025352	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8026671	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028788	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652488	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9806280	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9972481	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv904417	chr15:77851535-77935992	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904418	chr15:77851535-77963887	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904419	chr15:77897197-77943935	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77923000-77927400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr15:77923400-77927600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:77924000-77927600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:77924600-77927000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:77924600-77927400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:77924600-77927600	Enhancers	Fetal Heart	heart
7	chr15:77925600-77926800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr15:77925800-77926800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:77925800-77926800	Bivalent Enhancer	Fetal Thymus	thymus
10	chr15:77925800-77927000	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr15:77925800-77928000	Bivalent Enhancer	Fetal Brain Male	brain
12	chr15:77926000-77926800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:77926000-77926800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr15:77926000-77927000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr15:77926000-77927000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr15:77926000-77927000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr15:77926000-77927000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:77926000-77927000	Bivalent Enhancer	Liver	Liver
19	chr15:77926000-77927000	Enhancers	Gastric	stomach
20	chr15:77926000-77927000	Enhancers	Pancreas	Pancrea
21	chr15:77926000-77927000	Enhancers	Right Ventricle	heart
22	chr15:77926000-77927200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:77926000-77927200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr15:77926000-77927200	Genic enhancers	Right Atrium	heart
25	chr15:77926000-77927400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:77926000-77927400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr15:77926000-77927400	Bivalent Enhancer	Fetal Stomach	stomach
28	chr15:77926000-77927400	Enhancers	Spleen	Spleen
29	chr15:77926000-77927600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr15:77926000-77927600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:77926000-77927600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr15:77926000-77927600	Bivalent Enhancer	Placenta	Placenta
33	chr15:77926200-77926800	Bivalent Enhancer	Fetal Kidney	kidney
34	chr15:77926200-77926800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr15:77926200-77927000	Bivalent Enhancer	Primary T cells from cord blood	blood
36	chr15:77926200-77927000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr15:77926200-77927000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:77926200-77927000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
39	chr15:77926200-77927200	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr15:77926200-77927400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:77926200-77927400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:77926200-77927600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr15:77926400-77926800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr15:77926400-77926800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:77926400-77926800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:77926400-77926800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:77926400-77926800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:77926400-77926800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:77926400-77926800	Enhancers	Brain Angular Gyrus	brain
50	chr15:77926400-77926800	Bivalent Enhancer	Brain Anterior Caudate	brain

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