Variant report

Variant	rs34524930
Chromosome Location	chr15:44486674-44486675
allele	-/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	CTCF	chr15:44486620-44486770	SAEC	small airway:	n/a	n/a
2	POLR2A	chr15:44486364-44487037	U87	brain:	n/a	n/a
3	POLR2A	chr15:44485694-44487997	H1-neurons	neurons:	n/a	n/a
4	TCF12	chr15:44485691-44488007	SK-N-SH	brain:	n/a	chr15:44487732-44487739 chr15:44485945-44485955
5	REST	chr15:44486512-44486936	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:44485923-44487787	HUVEC	blood vessel:	n/a	n/a
7	EP300	chr15:44486330-44487084	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr15:44486456-44487076	SK-N-SH_RA	brain:	n/a	n/a
9	SIN3AK20	chr15:44486073-44487153	SK-N-SH	brain:	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	chr15:44486550-44486953	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:44486425-44486866	IMR90	lung:	n/a	n/a
16	CEBPB	chr15:44486543-44486881	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr15:44486580-44486730	HEEpiC	esophagus:	n/a	n/a
18	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
19	NFIC	chr15:44485772-44487807	SK-N-SH	brain:	n/a	n/a
20	EP300	chr15:44486485-44486906	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr15:44486540-44486690	HMEC	breast:	n/a	n/a
22	SIN3A	chr15:44485818-44487978	H1-hESC	embryonic stem cell:	n/a	n/a
23	FOS	chr15:44486260-44486911	HUVEC	blood vessel:	n/a	chr15:44486659-44486667 chr15:44486814-44486823 chr15:44486657-44486668
24	POLR2A	chr15:44486535-44487145	HCT-116	colon:	n/a	n/a
25	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
26	POLR2A	chr15:44486422-44486981	HCT-116	colon:	n/a	n/a
27	PBX3	chr15:44485982-44487050	SK-N-SH	brain:	n/a	n/a
28	MXI1	chr15:44486615-44486991	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr15:44486605-44486999	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr15:44486564-44487017	Hela-S3	cervix:	n/a	n/a
31	EP300	chr15:44486495-44486878	SK-N-SH_RA	brain:	n/a	n/a
32	TCF12	chr15:44486307-44487072	SK-N-SH	brain:	n/a	n/a
33	YY1	chr15:44486530-44487079	SK-N-SH_RA	brain:	n/a	chr15:44486777-44486791
34	RCOR1	chr15:44486658-44486852	K562	blood:	n/a	n/a
35	FOS	chr15:44486589-44486713	MCF10A-Er-Src	breast:	n/a	chr15:44486659-44486667 chr15:44486657-44486668
36	MAX	chr15:44486502-44486782	K562	blood:	n/a	n/a
37	CTCF	chr15:44486660-44486810	HA-sp	spinal cord:	n/a	n/a
38	EP300	chr15:44486308-44487913	SK-N-SH	brain:	n/a	n/a
39	TCF12	chr15:44486543-44487028	A549	lung:	n/a	n/a
40	PBX3	chr15:44486365-44487994	SK-N-SH	brain:	n/a	chr15:44487753-44487764 chr15:44487529-44487538 chr15:44487558-44487578
41	REST	chr15:44485416-44488376	H1-neurons	neurons:	n/a	chr15:44487861-44487871 chr15:44487288-44487301
42	RAD21	chr15:44486513-44486957	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr15:44486580-44486730	AG10803	skin:	n/a	n/a
44	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
45	POLR2A	chr15:44485700-44488015	H1-neurons	neurons:	n/a	n/a
46	ZBTB7A	chr15:44486600-44487669	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr15:44486357-44487027	A549	lung:	n/a	n/a
48	CTCF	chr15:44486660-44486810	HCM	heart:	n/a	n/a
49	MAFK	chr15:44485680-44486705	IMR90	lung:	n/a	chr15:44486005-44486021 chr15:44485854-44485868 chr15:44486010-44486021 chr15:44485856-44485867 chr15:44485856-44485867 chr15:44486010-44486021 chr15:44485855-44485866 chr15:44485855-44485866 chr15:44486005-44486020
50	FOS	chr15:44486511-44486811	MCF10A-Er-Src	breast:	n/a	chr15:44486659-44486667 chr15:44486657-44486668

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:115 , 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	chr15:44484800-44486800	Active TSS	Fetal Brain Male	brain
12	chr15:44485200-44486800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:44485400-44487000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr15:44485600-44487200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr15:44485600-44488000	Active TSS	Right Atrium	heart
16	chr15:44485600-44488200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr15:44485800-44486800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:44485800-44486800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:44485800-44486800	Enhancers	Pancreas	Pancrea
20	chr15:44485800-44486800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
21	chr15:44485800-44487000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:44485800-44487000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:44485800-44487000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
24	chr15:44485800-44487200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:44485800-44487400	Bivalent Enhancer	Placenta	Placenta
26	chr15:44485800-44487800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:44485800-44487800	Active TSS	HSMM	muscle
28	chr15:44485800-44488000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:44485800-44488000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:44485800-44488000	Active TSS	Aorta	Aorta
31	chr15:44485800-44488000	Active TSS	Right Ventricle	heart
32	chr15:44485800-44488000	Active TSS	HSMMtube	muscle
33	chr15:44485800-44488200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr15:44486000-44486800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr15:44486000-44486800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:44486000-44486800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr15:44486000-44486800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:44486000-44486800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:44486000-44486800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr15:44486000-44486800	Bivalent Enhancer	Fetal Thymus	thymus
41	chr15:44486000-44486800	Flanking Active TSS	Hela-S3	cervix
42	chr15:44486000-44486800	Flanking Bivalent TSS/Enh	Osteobl	bone
43	chr15:44486000-44487000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr15:44486000-44487000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:44486000-44487000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr15:44486000-44487200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr15:44486000-44487400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr15:44486000-44487400	Enhancers	Lung	lung
49	chr15:44486000-44487600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:44486000-44487800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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