Variant report

Variant	rs561479152
Chromosome Location	chr15:45750669-45750670
allele	G/T
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	CTCF	chr15:45750602-45750725	Spleen_OC	spleen:	n/a	n/a
4	MYC	chr15:45749756-45750805	NB4	blood:	n/a	n/a
5	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
6	CTCF	chr15:45750620-45750770	HA-sp	spinal cord:	n/a	n/a
7	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
8	MAFK	chr15:45750209-45750760	IMR90	lung:	n/a	n/a
9	MAFK	chr15:45749560-45750780	Hela-S3	cervix:	n/a	n/a
10	SMC3	chr15:45748640-45751360	Hela-S3	cervix:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
11	SMC3	chr15:45749683-45751577	GM12878	blood:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
12	FOS	chr15:45750245-45750759	MCF10A-Er-Src	breast:	n/a	n/a
13	ARID3A	chr15:45749772-45750771	HepG2	liver:	n/a	n/a
14	CTCF	chr15:45750600-45750750	AG09309	skin:	n/a	n/a
15	RCOR1	chr15:45749763-45750746	GM12878	blood:	n/a	n/a
16	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
17	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
18	STAT3	chr15:45749829-45750735	GM12878	blood:	n/a	n/a
19	CTCF	chr15:45750640-45750790	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr15:45750580-45750730	HCT-116	colon:	n/a	n/a
21	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
22	GTF3C2	chr15:45749797-45750755	Hela-S3	cervix:	n/a	n/a
23	MAFF	chr15:45750180-45750744	HepG2	liver:	n/a	n/a
24	CTCF	chr15:45750600-45750750	WI-38	lung:	n/a	n/a
25	MAZ	chr15:45750622-45750945	HepG2	liver:	n/a	n/a
26	MAFK	chr15:45749931-45750730	HepG2	liver:	n/a	n/a
27	CTCF	chr15:45750600-45750750	HepG2	liver:	n/a	n/a
28	CTCF	chr15:45750613-45750760	HUVEC	blood vessel:	n/a	n/a
29	IRF1	chr15:45749747-45751340	K562	blood:	n/a	chr15:45751097-45751108 chr15:45751095-45751109 chr15:45751094-45751114 chr15:45751096-45751107 chr15:45751050-45751063 chr15:45751100-45751113 chr15:45751095-45751108 chr15:45751049-45751066 chr15:45751096-45751110 chr15:45751100-45751113 chr15:45751095-45751112 chr15:45751095-45751109 chr15:45751094-45751108 chr15:45751098-45751108
30	CTCF	chr15:45749498-45751911	SK-N-SH	brain:	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
31	CTCF	chr15:45750640-45750790	BJ	skin:	n/a	n/a
32	ARID3A	chr15:45749769-45751332	K562	blood:	n/a	n/a
33	CTCF	chr15:45750600-45750750	A549	lung:	n/a	n/a
34	RAD21	chr15:45749602-45751363	Hela-S3	cervix:	n/a	chr15:45751154-45751163 chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320 chr15:45751152-45751159
35	SMC3	chr15:45749425-45750932	SK-N-SH	brain:	n/a	chr15:45749923-45749937 chr15:45750312-45750326
36	CTCF	chr15:45750600-45750750	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45750656..45751581-chr15:45813573..45814784,3	K562	blood:
2	chr15:45749404..45751481-chr15:45878948..45881186,2	K562	blood:
3	chr15:45721836..45723115-chr15:45748925..45751188,14	K562	blood:
4	chr15:45750236..45753171-chr15:45878645..45880450,2	MCF-7	breast:
5	chr15:45722040..45723226-chr15:45748321..45751272,60	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
ENSG00000104154	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000179362	Chromatin interaction
ENSG00000166920	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:115 , 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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