Variant report

Variant	rs375686831
Chromosome Location	chr15:83478616-83478617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:307)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:83477967-83478790	Hela-S3	cervix:	n/a	chr15:83478322-83478330
2	WRNIP1	chr15:83478040-83478631	GM12878	blood:	n/a	n/a
3	HDAC2	chr15:83478384-83478830	K562	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	RAD21	chr15:83478338-83478935	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:83478030-83478645	K562	blood:	n/a	n/a
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	ZBTB7A	chr15:83478516-83479029	K562	blood:	n/a	n/a
13	HMGN3	chr15:83478105-83479303	K562	blood:	n/a	n/a
14	TAF1	chr15:83478214-83479235	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMARCB1	chr15:83478067-83479519	Hela-S3	cervix:	n/a	n/a
16	CHD1	chr15:83478017-83480145	GM12878	blood:	n/a	n/a
17	ELF1	chr15:83478067-83479237	GM12878	blood:	n/a	n/a
18	ZNF143	chr15:83478025-83478969	GM12878	blood:	n/a	chr15:83478438-83478448 chr15:83478180-83478199
19	POLR2A	chr15:83478272-83478617	HepG2	liver:	n/a	n/a
20	ELF1	chr15:83478326-83478719	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr15:83478287-83478949	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr15:83478263-83478903	H1-hESC	embryonic stem cell:	n/a	n/a
23	PML	chr15:83477963-83478744	MCF-7	breast:	n/a	n/a
24	ETS1	chr15:83478306-83479273	K562	blood:	n/a	chr15:83479196-83479207
25	STAT5A	chr15:83478278-83478679	GM12878	blood:	n/a	n/a
26	USF1	chr15:83478134-83478651	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr15:83478062-83479517	ProgFib	skin:	n/a	n/a
28	POLR2A	chr15:83478092-83478676	HL-60	blood:	n/a	n/a
29	YY1	chr15:83478139-83479222	K562	blood:	n/a	n/a
30	POLR2A	chr15:83478115-83479366	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:83478274-83478685	GM12891	blood:	n/a	n/a
32	POLR2A	chr15:83477916-83479343	PANC-1	pancreas:	n/a	n/a
33	CREB1	chr15:83477982-83478652	HepG2	liver:	n/a	n/a
34	CTCF	chr15:83478364-83478951	IMR90	lung:	n/a	n/a
35	USF1	chr15:83478054-83478648	SK-N-SH	brain:	n/a	n/a
36	RFX5	chr15:83477087-83479037	SK-N-SH	brain:	n/a	chr15:83478322-83478331
37	POLR2A	chr15:83478016-83479566	PBDE	blood:	n/a	n/a
38	CHD2	chr15:83478023-83479366	HepG2	liver:	n/a	n/a
39	TAF1	chr15:83477948-83478810	ECC-1	luminal epithelium:	n/a	n/a
40	TAF1	chr15:83478274-83478635	GM12891	blood:	n/a	n/a
41	FOXP2	chr15:83478613-83479373	PFSK-1	brain:	n/a	n/a
42	CTCF	chr15:83478480-83478630	HCFaa	heart:	n/a	n/a
43	TAF1	chr15:83478076-83479262	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr15:83478207-83479124	K562	blood:	n/a	n/a
45	MAZ	chr15:83478048-83478646	GM12878	blood:	n/a	n/a
46	MYC	chr15:83478299-83479205	MCF-7	breast:	n/a	n/a
47	ELF1	chr15:83478223-83479320	K562	blood:	n/a	n/a
48	YY1	chr15:83478177-83478630	A549	lung:	n/a	n/a
49	MYBL2	chr15:83477830-83478669	HepG2	liver:	n/a	n/a
50	TAF1	chr15:83478216-83479302	K562	blood:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

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	chr15:83478452..83480034-chr15:83499455..83501748,2	MCF-7	breast:
5	chr15:83478077..83478694-chr19:56632004..56632840,2	Hela-S3	cervix:
6	chr15:83418742..83419414-chr15:83478376..83479191,2	Hela-S3	cervix:
7	chr15:83478349..83478996-chr5:98264221..98265198,2	Hela-S3	cervix:
8	chr15:83478347..83478879-chr2:10182698..10183566,2	Hela-S3	cervix:
9	chr15:83475882..83480852-chr15:83678880..83683242,6	MCF-7	breast:
10	chr15:83376836..83378789-chr15:83478421..83480593,2	MCF-7	breast:
11	chr15:83477828..83481866-chr15:83483118..83489176,7	K562	blood:
12	chr15:83313427..83317808-chr15:83477553..83483000,6	K562	blood:
13	chr15:83407361..83409606-chr15:83477408..83479472,2	MCF-7	breast:
14	chr15:83478211..83480402-chr15:83735487..83737469,2	MCF-7	breast:
15	chr15:83478214..83478879-chr6:24720555..24721193,2	Hela-S3	cervix:
16	chr15:83417500..83421911-chr15:83474614..83480217,8	MCF-7	breast:
17	chr15:83478559..83480416-chr15:83489248..83490840,2	MCF-7	breast:
18	chr15:83417832..83422548-chr15:83476028..83480956,9	K562	blood:
19	chr1:153508043..153508984-chr15:83478155..83479111,2	Hela-S3	cervix:
20	chr15:83477527..83479377-chr15:83517237..83519936,2	K562	blood:
21	chr15:83478198..83478889-chr5:102455539..102456094,2	Hela-S3	cervix:
22	chr15:83476923..83480237-chr15:83875108..83878990,4	MCF-7	breast:
23	chr15:83477632..83480172-chr15:83484528..83487051,2	MCF-7	breast:
24	chr15:83477529..83479377-chr15:83517237..83520056,3	K562	blood:
25	chr15:83477554..83479674-chr15:83486165..83489315,3	MCF-7	breast:
26	chr15:83417361..83424147-chr15:83476165..83481050,26	MCF-7	breast:
27	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
28	chr15:83417749..83420684-chr15:83476028..83479878,6	K562	blood:

No data

Variant related genes	Relation type
FSD2	TF binding region
ENSG00000112308	Chromatin interaction
ENSG00000103942	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000248489	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000259315	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000145723	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000166503	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000263643	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000145725	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83477400-83480400	Active TSS	Colonic Mucosa	Colon
2	chr15:83477400-83480400	Active TSS	Stomach Mucosa	stomach
3	chr15:83477400-83481000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:83477600-83479600	Active TSS	Brain Anterior Caudate	brain
5	chr15:83477600-83480200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:83477600-83480400	Active TSS	Psoas Muscle	Psoas
7	chr15:83477600-83480800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:83477800-83478800	Active TSS	Right Atrium	heart
9	chr15:83477800-83479400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:83477800-83479400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:83477800-83479400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:83477800-83479400	Active TSS	HepG2	liver
13	chr15:83477800-83479600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:83477800-83479600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:83477800-83479600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:83477800-83479800	Active TSS	Fetal Brain Male	brain
17	chr15:83477800-83480000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr15:83477800-83480000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:83477800-83480200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:83477800-83480400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr15:83477800-83480400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr15:83477800-83481000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:83478000-83478800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:83478000-83479400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:83478000-83479400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:83478000-83479400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr15:83478000-83479600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:83478000-83479800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:83478000-83479800	Active TSS	Brain Hippocampus Middle	brain
30	chr15:83478000-83479800	Active TSS	Small Intestine	intestine
31	chr15:83478000-83480200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr15:83478000-83480200	Active TSS	Fetal Muscle Trunk	muscle
33	chr15:83478000-83480200	Active TSS	Placenta	Placenta
34	chr15:83478000-83480400	Active TSS	Aorta	Aorta
35	chr15:83478000-83480400	Active TSS	Fetal Intestine Small	intestine
36	chr15:83478000-83480400	Active TSS	Fetal Kidney	kidney
37	chr15:83478000-83480400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr15:83478000-83480400	Active TSS	Ovary	ovary
39	chr15:83478000-83480400	Active TSS	Right Ventricle	heart
40	chr15:83478000-83480400	Active TSS	Stomach Smooth Muscle	stomach
41	chr15:83478000-83480600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:83478000-83480800	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr15:83478000-83480800	Active TSS	NH-A	brain
44	chr15:83478000-83481000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:83478000-83481400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr15:83478200-83479200	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr15:83478200-83479200	Active TSS	Primary B cells from cord blood	blood
48	chr15:83478200-83479200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr15:83478200-83479200	Active TSS	Adipose Nuclei	Adipose
50	chr15:83478200-83479200	Weak transcription	Fetal Heart	heart

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