Variant report

Variant	rs557345543
Chromosome Location	chr15:45750497-45750498
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	NFIC	chr15:45750073-45750724	SK-N-SH	brain:	n/a	n/a
2	JUND	chr15:45748194-45750692	SK-N-SH	brain:	n/a	chr15:45748929-45748938 chr15:45748992-45749004 chr15:45748993-45749003 chr15:45748993-45749003 chr15:45748993-45749002 chr15:45748993-45749003 chr15:45749399-45749408
3	RUNX3	chr15:45750110-45750614	GM12878	blood:	n/a	n/a
4	RAD21	chr15:45749547-45750649	MCF-7	breast:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
5	RAD21	chr15:45749550-45750498	H1-hESC	embryonic stem cell:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
6	MYC	chr15:45749756-45750805	NB4	blood:	n/a	n/a
7	RAD21	chr15:45749607-45750555	GM12878	blood:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
8	RCOR1	chr15:45749756-45750498	K562	blood:	n/a	n/a
9	CTCF	chr15:45749620-45750555	MCF-7	breast:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
10	CTCF	chr15:45749640-45750602	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
11	CTCF	chr15:45749661-45751354	GM12878	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
12	CTCF	chr15:45749694-45750521	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
13	CTCF	chr15:45749410-45751350	IMR90	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
14	MAFK	chr15:45750209-45750760	IMR90	lung:	n/a	n/a
15	CTCF	chr15:45749682-45750546	HepG2	liver:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
16	MAFK	chr15:45749560-45750780	Hela-S3	cervix:	n/a	n/a
17	SMC3	chr15:45748640-45751360	Hela-S3	cervix:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
18	SMC3	chr15:45749683-45751577	GM12878	blood:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
19	FOS	chr15:45750245-45750759	MCF10A-Er-Src	breast:	n/a	n/a
20	RCOR1	chr15:45749747-45750539	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr15:45750122-45750540	HUVEC	blood vessel:	n/a	chr15:45750310-45750328 chr15:45750311-45750327 chr15:45750315-45750323
22	TEAD4	chr15:45750087-45750556	K562	blood:	n/a	n/a
23	EBF1	chr15:45750175-45750583	GM12878	blood:	n/a	chr15:45750352-45750363
24	RCOR1	chr15:45748315-45750602	IMR90	lung:	n/a	n/a
25	GTF2F1	chr15:45749755-45750538	Hela-S3	cervix:	n/a	n/a
26	POU2F2	chr15:45750156-45750644	GM12878	blood:	n/a	chr15:45750364-45750377
27	MAFK	chr15:45750327-45750647	HepG2	liver:	n/a	n/a
28	ARID3A	chr15:45749772-45750771	HepG2	liver:	n/a	n/a
29	RAD21	chr15:45750172-45750503	SK-N-SH_RA	brain:	n/a	chr15:45750311-45750330 chr15:45750315-45750324 chr15:45750313-45750320
30	RAD21	chr15:45749490-45750544	H1-hESC	embryonic stem cell:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
31	RCOR1	chr15:45749763-45750746	GM12878	blood:	n/a	n/a
32	MYC	chr15:45749754-45750579	MCF10A-Er-Src	breast:	n/a	n/a
33	CTCF	chr15:45749448-45750665	HCT-116	colon:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
34	CTCF	chr15:45748610-45751517	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
35	RAD21	chr15:45749480-45750603	HCT-116	colon:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
36	CTCF	chr15:45748705-45751467	HCT-116	colon:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
37	TEAD4	chr15:45750011-45750530	HepG2	liver:	n/a	n/a
38	RAD21	chr15:45749631-45750571	A549	lung:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
39	STAT3	chr15:45749829-45750735	GM12878	blood:	n/a	n/a
40	RAD21	chr15:45749637-45750570	HepG2	liver:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
41	RUNX3	chr15:45750082-45750628	GM12878	blood:	n/a	n/a
42	CTCF	chr15:45750440-45750590	HCM	heart:	n/a	n/a
43	RAD21	chr15:45749321-45751638	SK-N-SH	brain:	n/a	chr15:45751154-45751163 chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320 chr15:45751152-45751159
44	TFAP2C	chr15:45749942-45750544	Hela-S3	cervix:	n/a	chr15:45750349-45750364
45	CHD2	chr15:45750332-45750532	K562	blood:	n/a	n/a
46	GTF3C2	chr15:45749797-45750755	Hela-S3	cervix:	n/a	n/a
47	MYBL2	chr15:45749732-45750524	HepG2	liver:	n/a	n/a
48	CTCF	chr15:45749703-45750551	K562	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
49	MAFF	chr15:45750180-45750744	HepG2	liver:	n/a	n/a
50	MAZ	chr15:45749787-45750646	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45749404..45751481-chr15:45878948..45881186,2	K562	blood:
2	chr15:45721836..45723115-chr15:45748925..45751188,14	K562	blood:
3	chr15:45750236..45753171-chr15:45878645..45880450,2	MCF-7	breast:
4	chr15:45722040..45723226-chr15:45748321..45751272,60	MCF-7	breast:
5	chr15:45722136..45723142-chr15:45749242..45750517,32	MCF-7	breast:
6	chr15:45749728..45751620-chr15:45879079..45880705,2	MCF-7	breast:
7	chr15:45749872..45750821-chr15:45905552..45906324,3	MCF-7	breast:
8	chr15:45459360..45460864-chr15:45748404..45750669,2	K562	blood:
9	chr15:45598944..45599924-chr15:45749735..45750683,4	K562	blood:

Variant related genes	Relation type
ENSG00000259354	TF binding region
ENSG00000104164	Chromatin interaction
ENSG00000166920	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000259539	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS 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	54 gene(s)	inside rSNPs	diseases
6	nsv1523	chr15:45749900-45783825	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45746200-45750800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr15:45748400-45750800	Flanking Active TSS	Hela-S3	cervix
3	chr15:45749000-45750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr15:45749000-45751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:45749200-45751000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr15:45749200-45751800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:45749200-45753200	Weak transcription	Gastric	stomach
8	chr15:45749400-45750800	Flanking Active TSS	NH-A	brain
9	chr15:45749400-45751600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:45749400-45753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:45749400-45753200	Weak transcription	Esophagus	oesophagus
12	chr15:45749400-45753200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:45749600-45750800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr15:45749800-45750800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr15:45749800-45750800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr15:45749800-45751200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr15:45749800-45751200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr15:45749800-45751200	Active TSS	Ovary	ovary
19	chr15:45749800-45751200	Active TSS	Rectal Smooth Muscle	rectum
20	chr15:45749800-45751200	Active TSS	Thymus	Thymus
21	chr15:45749800-45751200	Flanking Active TSS	Dnd41	blood
22	chr15:45749800-45751400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:45749800-45751400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:45749800-45751400	Active TSS	Brain Anterior Caudate	brain
25	chr15:45749800-45751400	Active TSS	Brain Hippocampus Middle	brain
26	chr15:45749800-45751400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:45749800-45751400	Active TSS	Fetal Kidney	kidney
28	chr15:45749800-45751400	Active TSS	Stomach Smooth Muscle	stomach
29	chr15:45749800-45751600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:45749800-45751600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:45749800-45751600	Active TSS	Right Atrium	heart
32	chr15:45749800-45751600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr15:45749800-45753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:45750000-45750800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:45750000-45750800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:45750000-45750800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr15:45750000-45750800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr15:45750000-45750800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr15:45750000-45750800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr15:45750000-45750800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:45750000-45750800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:45750000-45750800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:45750000-45750800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:45750000-45750800	Flanking Active TSS	Liver	Liver
45	chr15:45750000-45750800	Active TSS	Brain Substantia Nigra	brain
46	chr15:45750000-45750800	Active TSS	Fetal Heart	heart
47	chr15:45750000-45750800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:45750000-45750800	Flanking Active TSS	HMEC	breast
49	chr15:45750000-45750800	Flanking Active TSS	HSMM	muscle
50	chr15:45750000-45751000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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