Variant report

Variant	rs142483823
Chromosome Location	chr15:44486958-44486959
allele	-/C
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	chr15:44486364-44487037	U87	brain:	n/a	n/a
2	POLR2A	chr15:44485694-44487997	H1-neurons	neurons:	n/a	n/a
3	TCF12	chr15:44485691-44488007	SK-N-SH	brain:	n/a	chr15:44487732-44487739 chr15:44485945-44485955
4	CTCF	chr15:44486840-44486990	HRE	kidney:	n/a	n/a
5	POLR2A	chr15:44485923-44487787	HUVEC	blood vessel:	n/a	n/a
6	EP300	chr15:44486330-44487084	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr15:44486456-44487076	SK-N-SH_RA	brain:	n/a	n/a
8	SIN3AK20	chr15:44486073-44487153	SK-N-SH	brain:	n/a	n/a
9	CHD1	chr15:44486909-44487044	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr15:44486541-44487065	Hela-S3	cervix:	n/a	n/a
11	NFIC	chr15:44486424-44488035	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr15:44486518-44487099	HUVEC	blood vessel:	n/a	n/a
13	MAZ	chr15:44485459-44488170	IMR90	lung:	n/a	chr15:44486033-44486043
14	MAX	chr15:44486942-44488087	ECC-1	luminal epithelium:	n/a	n/a
15	GATA2	chr15:44485905-44486978	SH-SY5Y	brain:	n/a	chr15:44486719-44486728 chr15:44486721-44486728 chr15:44486721-44486728 chr15:44486716-44486732 chr15:44486721-44486728 chr15:44486714-44486735 chr15:44486719-44486729
16	CTCF	chr15:44486860-44487010	HRPEpiC	eye:	n/a	n/a
17	NFIC	chr15:44485772-44487807	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr15:44486916-44487009	H1-hESC	embryonic stem cell:	n/a	n/a
19	HMGN3	chr15:44486759-44486984	K562	blood:	n/a	n/a
20	SIN3A	chr15:44485818-44487978	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:44486535-44487145	HCT-116	colon:	n/a	n/a
22	GATA3	chr15:44485882-44487958	SK-N-SH	brain:	n/a	chr15:44486719-44486728 chr15:44487915-44487923 chr15:44486721-44486728 chr15:44486721-44486728 chr15:44487797-44487805 chr15:44486716-44486732 chr15:44486721-44486728 chr15:44486714-44486735 chr15:44486719-44486729
23	CTCF	chr15:44486840-44486990	GM12868	blood:	n/a	n/a
24	POLR2A	chr15:44486422-44486981	HCT-116	colon:	n/a	n/a
25	PBX3	chr15:44485982-44487050	SK-N-SH	brain:	n/a	n/a
26	MXI1	chr15:44486615-44486991	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr15:44486605-44486999	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr15:44486564-44487017	Hela-S3	cervix:	n/a	n/a
29	TCF12	chr15:44486307-44487072	SK-N-SH	brain:	n/a	n/a
30	YY1	chr15:44486530-44487079	SK-N-SH_RA	brain:	n/a	chr15:44486777-44486791
31	EP300	chr15:44486308-44487913	SK-N-SH	brain:	n/a	n/a
32	TCF12	chr15:44486543-44487028	A549	lung:	n/a	n/a
33	PBX3	chr15:44486365-44487994	SK-N-SH	brain:	n/a	chr15:44487753-44487764 chr15:44487529-44487538 chr15:44487558-44487578
34	CTCF	chr15:44486820-44486970	GM12864	blood:	n/a	n/a
35	REST	chr15:44485416-44488376	H1-neurons	neurons:	n/a	chr15:44487861-44487871 chr15:44487288-44487301
36	CTCF	chr15:44486820-44486970	HMEC	breast:	n/a	n/a
37	GATA3	chr15:44486059-44487042	SK-N-SH	brain:	n/a	chr15:44486719-44486728 chr15:44486721-44486728 chr15:44486721-44486728 chr15:44486716-44486732 chr15:44486721-44486728 chr15:44486714-44486735 chr15:44486719-44486729
38	POLR2A	chr15:44485700-44488015	H1-neurons	neurons:	n/a	n/a
39	ZBTB7A	chr15:44486600-44487669	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr15:44486357-44487027	A549	lung:	n/a	n/a
41	CTCF	chr15:44486797-44486959	MCF-7	breast:	n/a	n/a
42	TCF7L2	chr15:44486047-44488154	HCT-116	colon:	n/a	n/a
43	MXI1	chr15:44484603-44488176	SK-N-SH	brain:	n/a	n/a
44	ZBTB7A	chr15:44486553-44487912	ECC-1	luminal epithelium:	n/a	n/a
45	TEAD4	chr15:44486448-44487271	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr15:44486900-44487050	HFF	foreskin:	n/a	n/a
47	CTCF	chr15:44486798-44486992	NHEK	skin:	n/a	n/a
48	NFIC	chr15:44486396-44487088	SK-N-SH	brain:	n/a	n/a
49	MAX	chr15:44486737-44488142	ECC-1	luminal epithelium:	n/a	n/a
50	SMARCB1	chr15:44486833-44487898	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
FRMD5	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3420951	chr15:44486085-44488633	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44484200-44487800	Active TSS	Brain Anterior Caudate	brain
2	chr15:44484200-44488000	Active TSS	Brain Hippocampus Middle	brain
3	chr15:44484200-44488000	Active TSS	Brain Substantia Nigra	brain
4	chr15:44484200-44488200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr15:44484200-44488200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:44484400-44487800	Active TSS	Brain Angular Gyrus	brain
7	chr15:44484400-44487800	Active TSS	Brain Cingulate Gyrus	brain
8	chr15:44484600-44487600	Active TSS	HMEC	breast
9	chr15:44484600-44488200	Active TSS	Fetal Brain Female	brain
10	chr15:44484600-44488200	Active TSS	NH-A	brain
11	chr15:44485400-44487000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:44485600-44487200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:44485600-44488000	Active TSS	Right Atrium	heart
14	chr15:44485600-44488200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:44485800-44487000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:44485800-44487000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:44485800-44487000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
18	chr15:44485800-44487200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:44485800-44487400	Bivalent Enhancer	Placenta	Placenta
20	chr15:44485800-44487800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:44485800-44487800	Active TSS	HSMM	muscle
22	chr15:44485800-44488000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:44485800-44488000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:44485800-44488000	Active TSS	Aorta	Aorta
25	chr15:44485800-44488000	Active TSS	Right Ventricle	heart
26	chr15:44485800-44488000	Active TSS	HSMMtube	muscle
27	chr15:44485800-44488200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr15:44486000-44487000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr15:44486000-44487000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:44486000-44487000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr15:44486000-44487200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr15:44486000-44487400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr15:44486000-44487400	Enhancers	Lung	lung
34	chr15:44486000-44487600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:44486000-44487800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:44486000-44487800	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr15:44486000-44488000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:44486000-44488200	Active TSS	A549	lung
39	chr15:44486200-44487000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:44486200-44487000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr15:44486200-44487000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:44486200-44487000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr15:44486200-44487000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr15:44486200-44487000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:44486200-44487000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr15:44486200-44487200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:44486200-44487200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:44486200-44487200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr15:44486200-44487400	Active TSS	Gastric	stomach
50	chr15:44486200-44487600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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