Variant report

Variant	rs199846096
Chromosome Location	chr15:83478154-83478155
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	E2F4	chr15:83477905-83478613	MCF10A-Er-Src	breast:	n/a	chr15:83478321-83478330 chr15:83478439-83478448
2	CEBPB	chr15:83477967-83478790	Hela-S3	cervix:	n/a	chr15:83478322-83478330
3	WRNIP1	chr15:83478040-83478631	GM12878	blood:	n/a	n/a
4	CREB1	chr15:83478010-83478699	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:83478084-83479399	MCF-7	breast:	n/a	n/a
6	POLR2A	chr15:83478030-83478645	K562	blood:	n/a	n/a
7	SP4	chr15:83477932-83478456	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP2	chr15:83477945-83478550	HepG2	liver:	n/a	chr15:83478322-83478332 chr15:83478242-83478252
9	KAP1	chr15:83477258-83478633	HEK293	kidney:	n/a	n/a
10	MXI1	chr15:83478141-83478684	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr15:83478051-83479290	K562	blood:	n/a	chr15:83479251-83479258 chr15:83479251-83479258 chr15:83478321-83478330 chr15:83478439-83478448 chr15:83479251-83479258
12	SP2	chr15:83477961-83478574	H1-hESC	embryonic stem cell:	n/a	chr15:83478322-83478332 chr15:83478242-83478252
13	HMGN3	chr15:83478105-83479303	K562	blood:	n/a	n/a
14	FOS	chr15:83478042-83478383	MCF10A-Er-Src	breast:	n/a	chr15:83478323-83478332
15	SP1	chr15:83477995-83478559	HepG2	liver:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
16	SMARCB1	chr15:83478067-83479519	Hela-S3	cervix:	n/a	n/a
17	CHD1	chr15:83478017-83480145	GM12878	blood:	n/a	n/a
18	ELF1	chr15:83478067-83479237	GM12878	blood:	n/a	n/a
19	ZNF143	chr15:83478025-83478969	GM12878	blood:	n/a	chr15:83478438-83478448 chr15:83478180-83478199
20	PML	chr15:83477963-83478744	MCF-7	breast:	n/a	n/a
21	USF1	chr15:83478134-83478651	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr15:83478062-83479517	ProgFib	skin:	n/a	n/a
23	POLR2A	chr15:83478092-83478676	HL-60	blood:	n/a	n/a
24	YY1	chr15:83478139-83479222	K562	blood:	n/a	n/a
25	POLR2A	chr15:83478115-83479366	MCF-7	breast:	n/a	n/a
26	POLR2A	chr15:83477916-83479343	PANC-1	pancreas:	n/a	n/a
27	CREB1	chr15:83477982-83478652	HepG2	liver:	n/a	n/a
28	USF1	chr15:83478054-83478648	SK-N-SH	brain:	n/a	n/a
29	ELK1	chr15:83478090-83478560	Hela-S3	cervix:	n/a	n/a
30	RFX5	chr15:83477087-83479037	SK-N-SH	brain:	n/a	chr15:83478322-83478331
31	SP2	chr15:83478074-83478447	K562	blood:	n/a	chr15:83478322-83478332 chr15:83478242-83478252
32	SP1	chr15:83477950-83478531	GM12878	blood:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
33	POLR2A	chr15:83478016-83479566	PBDE	blood:	n/a	n/a
34	CHD2	chr15:83478023-83479366	HepG2	liver:	n/a	n/a
35	IRF1	chr15:83477954-83478608	K562	blood:	n/a	chr15:83478369-83478382 chr15:83478368-83478382 chr15:83478321-83478330 chr15:83478369-83478383 chr15:83478368-83478382
36	TAF1	chr15:83477948-83478810	ECC-1	luminal epithelium:	n/a	n/a
37	SMC3	chr15:83477755-83478357	HepG2	liver:	n/a	n/a
38	RFX5	chr15:83477974-83478446	K562	blood:	n/a	chr15:83478322-83478331
39	CEBPB	chr15:83478049-83478219	HepG2	liver:	n/a	n/a
40	TAF1	chr15:83478076-83479262	ECC-1	luminal epithelium:	n/a	n/a
41	STAT3	chr15:83477976-83478392	MCF10A-Er-Src	breast:	n/a	n/a
42	MAZ	chr15:83478048-83478646	GM12878	blood:	n/a	n/a
43	IRF3	chr15:83477977-83478454	Hela-S3	cervix:	n/a	chr15:83478369-83478382 chr15:83478368-83478382 chr15:83478321-83478330 chr15:83478369-83478383 chr15:83478368-83478382
44	STAT3	chr15:83478012-83478365	MCF10A-Er-Src	breast:	n/a	n/a
45	SP1	chr15:83477963-83478556	H1-hESC	embryonic stem cell:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
46	MYBL2	chr15:83477830-83478669	HepG2	liver:	n/a	n/a
47	EP300	chr15:83478098-83478537	SK-N-SH_RA	brain:	n/a	chr15:83478439-83478448
48	MAX	chr15:83478083-83478713	MCF-7	breast:	n/a	n/a
49	SIN3AK20	chr15:83477713-83478802	MCF-7	breast:	n/a	n/a
50	E2F6	chr15:83477903-83478761	A549	lung:	n/a	chr15:83478321-83478330 chr15:83478439-83478448

No.	Distal block	Cell Line	Cell type
1	chr15:83423255..83426158-chr15:83477607..83479598,3	MCF-7	breast:
2	chr15:83478011..83478847-chr17:26988790..26989739,2	Hela-S3	cervix:
3	chr15:83478077..83478694-chr19:56632004..56632840,2	Hela-S3	cervix:
4	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
5	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
6	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
7	chr15:83407361..83409606-chr15:83477408..83479472,2	MCF-7	breast:
8	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
9	chr15:83476033..83478214-chr15:83679893..83681510,2	K562	blood:
10	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
11	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
12	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
13	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
14	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:
15	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
16	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
17	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
18	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

Variant related genes	Relation type
WHAMM	TF binding region
FSD2	TF binding region
ENSG00000103942	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases
4	esv3371602	chr15:83476798-83481096	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	esv3334500	chr15:83478048-83480146	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83471200-83478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:83472400-83478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:83475000-83478400	Weak transcription	Left Ventricle	heart
4	chr15:83477200-83478200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr15:83477400-83478200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:83477400-83478200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr15:83477400-83478200	Flanking Active TSS	Fetal Heart	heart
8	chr15:83477400-83478200	Flanking Active TSS	Dnd41	blood
9	chr15:83477400-83478200	Flanking Active TSS	GM12878-XiMat	blood
10	chr15:83477400-83478200	Flanking Active TSS	Hela-S3	cervix
11	chr15:83477400-83478200	Flanking Active TSS	K562	blood
12	chr15:83477400-83480400	Active TSS	Colonic Mucosa	Colon
13	chr15:83477400-83480400	Active TSS	Stomach Mucosa	stomach
14	chr15:83477400-83481000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:83477600-83478200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr15:83477600-83478200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:83477600-83478200	Enhancers	Spleen	Spleen
18	chr15:83477600-83478200	Flanking Active TSS	A549	lung
19	chr15:83477600-83479600	Active TSS	Brain Anterior Caudate	brain
20	chr15:83477600-83480200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr15:83477600-83480400	Active TSS	Psoas Muscle	Psoas
22	chr15:83477600-83480800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:83477800-83478200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:83477800-83478200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:83477800-83478200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:83477800-83478200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr15:83477800-83478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:83477800-83478200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr15:83477800-83478200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr15:83477800-83478200	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr15:83477800-83478200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr15:83477800-83478200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr15:83477800-83478200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:83477800-83478200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr15:83477800-83478200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:83477800-83478200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:83477800-83478200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:83477800-83478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:83477800-83478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:83477800-83478200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr15:83477800-83478200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr15:83477800-83478200	Flanking Active TSS	Liver	Liver
43	chr15:83477800-83478200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr15:83477800-83478200	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr15:83477800-83478200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr15:83477800-83478200	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr15:83477800-83478200	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr15:83477800-83478200	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr15:83477800-83478200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr15:83477800-83478200	Flanking Active TSS	Rectal Smooth Muscle	rectum

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