Variant report

Variant	rs73409812
Chromosome Location	chr15:44487617-44487618
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	TBP	chr15:44487432-44487794	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:44485694-44487997	H1-neurons	neurons:	n/a	n/a
3	CHD2	chr15:44487364-44488027	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr15:44487600-44487750	HCM	heart:	n/a	chr15:44487691-44487701
5	CTCF	chr15:44487560-44487710	HUVEC	blood vessel:	n/a	chr15:44487691-44487701
6	RCOR1	chr15:44487314-44487972	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr15:44485691-44488007	SK-N-SH	brain:	n/a	chr15:44487732-44487739 chr15:44485945-44485955
8	NANOG	chr15:44487357-44487931	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:44485923-44487787	HUVEC	blood vessel:	n/a	n/a
10	MYC	chr15:44487550-44487692	HUVEC	blood vessel:	n/a	n/a
11	USF1	chr15:44487418-44487688	SK-N-SH_RA	brain:	n/a	n/a
12	POLR2A	chr15:44487057-44487924	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:44487144-44487750	ProgFib	skin:	n/a	n/a
14	CTCF	chr15:44487580-44487730	RPTEC	kidney:	n/a	chr15:44487691-44487701
15	CTCF	chr15:44487551-44487833	Spleen_OC	spleen:	n/a	chr15:44487691-44487701
16	POLR2A	chr15:44487123-44487861	Gliobla	brain:	n/a	n/a
17	BRCA1	chr15:44487455-44487861	Hela-S3	cervix:	n/a	n/a
18	NFYB	chr15:44487431-44487817	K562	blood:	n/a	n/a
19	NFIC	chr15:44486424-44488035	ECC-1	luminal epithelium:	n/a	n/a
20	EP300	chr15:44487506-44487900	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAZ	chr15:44485459-44488170	IMR90	lung:	n/a	chr15:44486033-44486043
22	SP2	chr15:44487295-44487891	HepG2	liver:	n/a	chr15:44487598-44487621 chr15:44487529-44487539 chr15:44487556-44487579 chr15:44487595-44487610
23	GABPA	chr15:44487463-44487783	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:44487262-44487621	HCT-116	colon:	n/a	n/a
25	CTCF	chr15:44487580-44487730	HEEpiC	esophagus:	n/a	chr15:44487691-44487701
26	EBF1	chr15:44487452-44487664	GM12878	blood:	n/a	n/a
27	CTCF	chr15:44487600-44487750	HCPEpiC	choroid plexus:	n/a	chr15:44487691-44487701
28	CTCF	chr15:44487580-44487730	GM12874	blood:	n/a	chr15:44487691-44487701
29	MAX	chr15:44486942-44488087	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr15:44487540-44487690	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr15:44487560-44487710	NHEK	skin:	n/a	chr15:44487691-44487701
32	CTCF	chr15:44487580-44487730	HCPEpiC	choroid plexus:	n/a	chr15:44487691-44487701
33	IRF3	chr15:44487429-44487804	Hela-S3	cervix:	n/a	chr15:44487504-44487518
34	HA-E2F1	chr15:44487392-44487970	MCF-7	breast:	n/a	chr15:44487825-44487837
35	CTCF	chr15:44487580-44487730	GM12870	blood:	n/a	chr15:44487691-44487701
36	CTCF	chr15:44487581-44487717	HUVEC	blood vessel:	n/a	chr15:44487691-44487701
37	MAX	chr15:44487268-44488061	MCF-7	breast:	n/a	n/a
38	SP2	chr15:44487291-44487843	HepG2	liver:	n/a	chr15:44487598-44487621 chr15:44487529-44487539 chr15:44487556-44487579 chr15:44487595-44487610
39	POLR2A	chr15:44487163-44487890	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr15:44487567-44487837	Fibrobl	skin:	n/a	chr15:44487691-44487701
41	CTCF	chr15:44487580-44487730	AG09309	skin:	n/a	chr15:44487691-44487701
42	GTF2F1	chr15:44487549-44487764	Hela-S3	cervix:	n/a	n/a
43	E2F4	chr15:44487366-44487914	MCF10A-Er-Src	breast:	n/a	chr15:44487825-44487837
44	NFIC	chr15:44485772-44487807	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr15:44487580-44487730	BJ	skin:	n/a	chr15:44487691-44487701
46	YY1	chr15:44487318-44487763	SK-N-SH_RA	brain:	n/a	chr15:44487356-44487367
47	CTCF	chr15:44487580-44487730	AoAF	blood vessel:	n/a	chr15:44487691-44487701
48	ELK1	chr15:44487337-44487748	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr15:44487553-44487960	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF143	chr15:44487383-44487907	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:44487605-44487655	HCT-116	colon:	n/a
2	chr15:44487605-44487655	BJ	skin:	n/a
3	chr15:44487605-44487655	A549	lung:	n/a
4	chr15:44487605-44487655	PFSK-1	brain:	n/a
5	chr15:44487605-44487655	K562	blood:	n/a
6	chr15:44487605-44487655	CMK	blood:	n/a
7	chr15:44487605-44487655	IMR90	lung:	fetal
8	chr15:44487605-44487655	HEEpiC	esophagus:	n/a
9	chr15:44487605-44487655	U87	brain:	n/a
10	chr15:44487605-44487655	Jurkat	blood:	n/a
11	chr15:44487605-44487655	BE2_C	brain:	n/a
12	chr15:44487605-44487655	HEK293	kidney:	embryo
13	chr15:44487605-44487655	PANC-1	pancreas:	n/a
14	chr15:44487605-44487655	Hela-S3	cervix:	n/a
15	chr15:44487605-44487655	GM06990	blood:	n/a
16	chr15:44487605-44487655	HCPEpiC	choroid plexus:	n/a
17	chr15:44487605-44487655	SK-N-MC	brain:	n/a
18	chr15:44487605-44487655	HMEC	breast:	n/a
19	chr15:44487605-44487655	HPAEpiC	pulmonary alveolar:	n/a
20	chr15:44487605-44487655	LNCaP	prostate:	n/a
21	chr15:44487605-44487655	GM12892	blood:	n/a
22	chr15:44487605-44487655	NHDF-neo	bronchial:	n/a
23	chr15:44487605-44487655	HRCEpiC	kidney:	n/a
24	chr15:44487605-44487655	GM12878	blood:	n/a
25	chr15:44487605-44487655	Hepatocyte	liver:	n/a
26	chr15:44487605-44487655	HCF	heart:	n/a
27	chr15:44487605-44487655	SKMC	muscle:	n/a
28	chr15:44487605-44487655	GM19239	blood:	n/a
29	chr15:44487605-44487655	H1-hESC	embryonic stem cell:	embryo
30	chr15:44487605-44487655	ECC-1	luminal epithelium:	n/a
31	chr15:44487605-44487655	AG10803	skin:	n/a
32	chr15:44487605-44487655	HAEpiC	amniotic membrane:	n/a
33	chr15:44487605-44487655	HRE	kidney:	n/a
34	chr15:44487605-44487655	SAEC	small airway:	n/a
35	chr15:44487605-44487655	MCF10A-Er-Src	breast:	n/a
36	chr15:44487605-44487655	SK-N-SH	brain:	n/a
37	chr15:44487605-44487655	ProgFib	skin:	n/a
38	chr15:44487605-44487655	NH-A	brain:	n/a
39	chr15:44487605-44487655	HIPEpiC	eye:	n/a
40	chr15:44487605-44487655	HNPCEpiC	eye:	n/a
41	chr15:44487605-44487655	HUVEC	blood vessel:	n/a
42	chr15:44487605-44487655	GM12891	blood:	n/a
43	chr15:44487605-44487655	ovcar-3	ovarian:	n/a
44	chr15:44487605-44487655	AG04450	lung:	fetal
45	chr15:44487605-44487655	PrEC	prostate:	n/a
46	chr15:44487605-44487655	HRPEpiC	eye:	n/a
47	chr15:44487605-44487655	HL-60	blood:	n/a
48	chr15:44487605-44487655	AoSMC	blood vessel:	n/a
49	chr15:44487605-44487655	Caco-2	colon:	n/a
50	chr15:44487605-44487655	MCF-7	breast:	n/a

Variant related genes	Relation type
FRMD5	TF binding region
FRMD5	CpG island

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:124 , 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	chr15:44484600-44488200	Active TSS	Fetal Brain Female	brain
9	chr15:44484600-44488200	Active TSS	NH-A	brain
10	chr15:44485600-44488000	Active TSS	Right Atrium	heart
11	chr15:44485600-44488200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:44485800-44487800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:44485800-44487800	Active TSS	HSMM	muscle
14	chr15:44485800-44488000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:44485800-44488000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:44485800-44488000	Active TSS	Aorta	Aorta
17	chr15:44485800-44488000	Active TSS	Right Ventricle	heart
18	chr15:44485800-44488000	Active TSS	HSMMtube	muscle
19	chr15:44485800-44488200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr15:44486000-44487800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:44486000-44487800	Bivalent/Poised TSS	Psoas Muscle	Psoas
22	chr15:44486000-44488000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:44486000-44488200	Active TSS	A549	lung
24	chr15:44486200-44487800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr15:44486200-44487800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr15:44486200-44487800	Active TSS	Left Ventricle	heart
27	chr15:44486200-44488200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr15:44486400-44487800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:44486400-44487800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr15:44486400-44487800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
31	chr15:44486400-44488200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:44486400-44488400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr15:44486600-44487800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:44486600-44487800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:44486600-44487800	Bivalent/Poised TSS	Colonic Mucosa	Colon
36	chr15:44486600-44487800	Active TSS	Spleen	Spleen
37	chr15:44486600-44487800	Active TSS	NHDF-Ad	bronchial
38	chr15:44486600-44487800	Active TSS	NHEK	skin
39	chr15:44486600-44488000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr15:44486600-44488200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr15:44486800-44487800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:44486800-44487800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:44486800-44487800	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:44486800-44487800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:44486800-44488000	Bivalent/Poised TSS	Small Intestine	intestine
46	chr15:44486800-44488200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr15:44486800-44488200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:44486800-44488400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr15:44487000-44487800	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr15:44487000-44487800	Active TSS	Osteobl	bone

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