Variant report

Variant	rs576594035
Chromosome Location	chr15:83478315-83478316
allele	A/G
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	POLR2A	chr15:83478181-83479415	HUVEC	blood vessel:	n/a	n/a
5	CREB1	chr15:83478010-83478699	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:83478084-83479399	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:83478030-83478645	K562	blood:	n/a	n/a
8	SP4	chr15:83477932-83478456	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP2	chr15:83477945-83478550	HepG2	liver:	n/a	chr15:83478322-83478332 chr15:83478242-83478252
10	KAP1	chr15:83477258-83478633	HEK293	kidney:	n/a	n/a
11	MXI1	chr15:83478141-83478684	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr15:83478051-83479290	K562	blood:	n/a	chr15:83479251-83479258 chr15:83479251-83479258 chr15:83478321-83478330 chr15:83478439-83478448 chr15:83479251-83479258
13	SP2	chr15:83477961-83478574	H1-hESC	embryonic stem cell:	n/a	chr15:83478322-83478332 chr15:83478242-83478252
14	HMGN3	chr15:83478105-83479303	K562	blood:	n/a	n/a
15	FOS	chr15:83478042-83478383	MCF10A-Er-Src	breast:	n/a	chr15:83478323-83478332
16	SP1	chr15:83477995-83478559	HepG2	liver:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
17	TAF1	chr15:83478214-83479235	H1-hESC	embryonic stem cell:	n/a	n/a
18	SMARCB1	chr15:83478067-83479519	Hela-S3	cervix:	n/a	n/a
19	CHD1	chr15:83478017-83480145	GM12878	blood:	n/a	n/a
20	ELF1	chr15:83478067-83479237	GM12878	blood:	n/a	n/a
21	ZNF143	chr15:83478025-83478969	GM12878	blood:	n/a	chr15:83478438-83478448 chr15:83478180-83478199
22	POLR2A	chr15:83478272-83478617	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr15:83478287-83478949	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr15:83478263-83478903	H1-hESC	embryonic stem cell:	n/a	n/a
25	PML	chr15:83477963-83478744	MCF-7	breast:	n/a	n/a
26	ETS1	chr15:83478306-83479273	K562	blood:	n/a	chr15:83479196-83479207
27	TAF1	chr15:83478264-83478570	A549	lung:	n/a	n/a
28	STAT5A	chr15:83478278-83478679	GM12878	blood:	n/a	n/a
29	USF1	chr15:83478134-83478651	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr15:83478062-83479517	ProgFib	skin:	n/a	n/a
31	POLR2A	chr15:83478092-83478676	HL-60	blood:	n/a	n/a
32	POLR2A	chr15:83478226-83478615	H1-hESC	embryonic stem cell:	n/a	n/a
33	YY1	chr15:83478139-83479222	K562	blood:	n/a	n/a
34	REST	chr15:83478292-83478609	HepG2	liver:	n/a	chr15:83478342-83478356 chr15:83478344-83478354 chr15:83478307-83478320 chr15:83478419-83478432
35	POLR2A	chr15:83478115-83479366	MCF-7	breast:	n/a	n/a
36	POLR2A	chr15:83478274-83478685	GM12891	blood:	n/a	n/a
37	POLR2A	chr15:83477916-83479343	PANC-1	pancreas:	n/a	n/a
38	CREB1	chr15:83477982-83478652	HepG2	liver:	n/a	n/a
39	USF1	chr15:83478054-83478648	SK-N-SH	brain:	n/a	n/a
40	ELK1	chr15:83478090-83478560	Hela-S3	cervix:	n/a	n/a
41	RFX5	chr15:83477087-83479037	SK-N-SH	brain:	n/a	chr15:83478322-83478331
42	SP2	chr15:83478074-83478447	K562	blood:	n/a	chr15:83478322-83478332 chr15:83478242-83478252
43	SP1	chr15:83477950-83478531	GM12878	blood:	n/a	chr15:83478320-83478341 chr15:83478233-83478254
44	POLR2A	chr15:83478016-83479566	PBDE	blood:	n/a	n/a
45	CHD2	chr15:83478023-83479366	HepG2	liver:	n/a	n/a
46	IRF1	chr15:83477954-83478608	K562	blood:	n/a	chr15:83478369-83478382 chr15:83478368-83478382 chr15:83478321-83478330 chr15:83478369-83478383 chr15:83478368-83478382
47	TAF1	chr15:83477948-83478810	ECC-1	luminal epithelium:	n/a	n/a
48	SMC3	chr15:83477755-83478357	HepG2	liver:	n/a	n/a
49	RFX5	chr15:83477974-83478446	K562	blood:	n/a	chr15:83478322-83478331
50	REST	chr15:83478301-83478549	SK-N-SH	brain:	n/a	chr15:83478342-83478356 chr15:83478344-83478354 chr15:83478307-83478320 chr15:83478419-83478432

No.	Distal block	Cell Line	Cell type
1	chr15:83478234..83479933-chr15:83485060..83487669,2	K562	blood:
2	chr15:83423255..83426158-chr15:83477607..83479598,3	MCF-7	breast:
3	chr15:83478011..83478847-chr17:26988790..26989739,2	Hela-S3	cervix:
4	chr15:83478077..83478694-chr19:56632004..56632840,2	Hela-S3	cervix:
5	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
6	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
7	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
8	chr15:83407361..83409606-chr15:83477408..83479472,2	MCF-7	breast:
9	chr15:83478211..83480402-chr15:83735487..83737469,2	MCF-7	breast:
10	chr15:83478214..83478879-chr6:24720555..24721193,2	Hela-S3	cervix:
11	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
12	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
13	chr1:153508043..153508984-chr15:83478155..83479111,2	Hela-S3	cervix:
14	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
15	chr15:83478198..83478889-chr5:102455539..102456094,2	Hela-S3	cervix:
16	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
17	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
18	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:
19	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
20	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
21	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
22	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

Variant related genes	Relation type
FSD2	TF binding region
WHAMM	TF binding region
ENSG00000109111	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000145725	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000145723	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000259315	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83475000-83478400	Weak transcription	Left Ventricle	heart
2	chr15:83477400-83480400	Active TSS	Colonic Mucosa	Colon
3	chr15:83477400-83480400	Active TSS	Stomach Mucosa	stomach
4	chr15:83477400-83481000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:83477600-83479600	Active TSS	Brain Anterior Caudate	brain
6	chr15:83477600-83480200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr15:83477600-83480400	Active TSS	Psoas Muscle	Psoas
8	chr15:83477600-83480800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:83477800-83478400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:83477800-83478400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:83477800-83478400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:83477800-83478400	Weak transcription	Gastric	stomach
13	chr15:83477800-83478800	Active TSS	Right Atrium	heart
14	chr15:83477800-83479400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:83477800-83479400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr15:83477800-83479400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:83477800-83479400	Active TSS	HepG2	liver
18	chr15:83477800-83479600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr15:83477800-83479600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:83477800-83479600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr15:83477800-83479800	Active TSS	Fetal Brain Male	brain
22	chr15:83477800-83480000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:83477800-83480000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:83477800-83480200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:83477800-83480400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr15:83477800-83480400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr15:83477800-83481000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:83478000-83478800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr15:83478000-83479400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:83478000-83479400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:83478000-83479400	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr15:83478000-83479600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:83478000-83479800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:83478000-83479800	Active TSS	Brain Hippocampus Middle	brain
35	chr15:83478000-83479800	Active TSS	Small Intestine	intestine
36	chr15:83478000-83480200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr15:83478000-83480200	Active TSS	Fetal Muscle Trunk	muscle
38	chr15:83478000-83480200	Active TSS	Placenta	Placenta
39	chr15:83478000-83480400	Active TSS	Aorta	Aorta
40	chr15:83478000-83480400	Active TSS	Fetal Intestine Small	intestine
41	chr15:83478000-83480400	Active TSS	Fetal Kidney	kidney
42	chr15:83478000-83480400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr15:83478000-83480400	Active TSS	Ovary	ovary
44	chr15:83478000-83480400	Active TSS	Right Ventricle	heart
45	chr15:83478000-83480400	Active TSS	Stomach Smooth Muscle	stomach
46	chr15:83478000-83480600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:83478000-83480800	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr15:83478000-83480800	Active TSS	NH-A	brain
49	chr15:83478000-83481000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:83478000-83481400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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