Variant report

Variant	rs74017312
Chromosome Location	chr15:59226989-59226990
allele	A/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	HCFC1	chr15:59224004-59227182	Hela-S3	cervix:	n/a	n/a
2	JUN	chr15:59226605-59227233	K562	blood:	n/a	chr15:59226845-59226854 chr15:59226822-59226830
3	JUND	chr15:59225613-59226996	Hela-S3	cervix:	n/a	chr15:59226378-59226387 chr15:59226845-59226854 chr15:59226822-59226830
4	MXI1	chr15:59222995-59227328	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr15:59225084-59227073	Hela-S3	cervix:	n/a	n/a
6	FOS	chr15:59226547-59227014	HUVEC	blood vessel:	n/a	chr15:59226845-59226854 chr15:59226820-59226831 chr15:59226822-59226830
7	TBP	chr15:59225510-59226995	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr15:59225575-59227003	K562	blood:	n/a	chr15:59226246-59226260 chr15:59225822-59225837 chr15:59226243-59226263 chr15:59226242-59226257
9	FOS	chr15:59226625-59226990	MCF10A-Er-Src	breast:	n/a	chr15:59226845-59226854 chr15:59226820-59226831 chr15:59226822-59226830
10	FOSL2	chr15:59225451-59227070	A549	lung:	n/a	chr15:59226378-59226387 chr15:59226845-59226854 chr15:59226822-59226830
11	FOS	chr15:59226677-59227008	MCF10A-Er-Src	breast:	n/a	chr15:59226845-59226854 chr15:59226820-59226831 chr15:59226822-59226830
12	TEAD4	chr15:59225493-59227149	ECC-1	luminal epithelium:	n/a	n/a
13	FOS	chr15:59226649-59226991	MCF10A-Er-Src	breast:	n/a	chr15:59226845-59226854 chr15:59226820-59226831 chr15:59226822-59226830
14	RFX5	chr15:59225421-59227049	Hela-S3	cervix:	n/a	chr15:59226846-59226855 chr15:59226379-59226388
15	FOS	chr15:59226675-59226997	MCF10A-Er-Src	breast:	n/a	chr15:59226845-59226854 chr15:59226820-59226831 chr15:59226822-59226830
16	MXI1	chr15:59224797-59227019	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59040867..59044243-chr15:59224539..59228117,4	K562	blood:
2	chr15:59061037..59064884-chr15:59224205..59227723,8	K562	blood:
3	chr15:59061870..59064465-chr15:59224425..59227494,5	K562	blood:
4	chr15:59204944..59209018-chr15:59223573..59227454,4	K562	blood:
5	chr15:59204944..59207520-chr15:59224526..59227454,2	K562	blood:
6	chr15:59223432..59227578-chr15:59278800..59283796,7	K562	blood:
7	chr15:59040332..59042868-chr15:59224764..59227201,2	MCF-7	breast:
8	chr15:59223432..59227292-chr15:59278800..59280721,3	K562	blood:

Variant related genes	Relation type
SLTM	TF binding region
ENSG00000128923	Chromatin interaction
ENSG00000245975	Chromatin interaction
ENSG00000137776	Chromatin interaction
ENSG00000157450	Chromatin interaction
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56031317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210669	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58734999	1.00[AMR][1000 genomes]
rs59631822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74017335	1.00[AMR][1000 genomes]
rs74021008	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	nsv904270	chr15:59140329-59238415	Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59223400-59227000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:59223800-59227200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:59224200-59227000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:59224400-59227000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:59224800-59227000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:59226200-59227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:59226200-59227000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:59226200-59227000	Flanking Active TSS	Stomach Mucosa	stomach
9	chr15:59226200-59227200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:59226400-59227000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:59226400-59227000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr15:59226400-59227000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr15:59226400-59227000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr15:59226400-59227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:59226400-59227000	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr15:59226400-59227000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:59226400-59227000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr15:59226400-59227000	Flanking Active TSS	GM12878-XiMat	blood
19	chr15:59226400-59227000	Flanking Active TSS	HMEC	breast
20	chr15:59226400-59227000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr15:59226400-59227000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr15:59226400-59227000	Flanking Active TSS	NHLF	lung
23	chr15:59226400-59227000	Flanking Active TSS	Osteobl	bone
24	chr15:59226400-59227200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr15:59226400-59227200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr15:59226400-59227200	Flanking Active TSS	A549	lung
27	chr15:59226400-59227200	Flanking Active TSS	Dnd41	blood
28	chr15:59226400-59227400	Flanking Active TSS	Hela-S3	cervix
29	chr15:59226600-59227000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr15:59226600-59227000	Enhancers	Fetal Lung	lung
31	chr15:59226600-59227000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr15:59226600-59227200	Enhancers	Primary B cells from peripheral blood	blood
33	chr15:59226600-59227200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:59226600-59227200	Enhancers	Fetal Muscle Leg	muscle
35	chr15:59226600-59227200	Enhancers	Fetal Thymus	thymus
36	chr15:59226600-59227200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr15:59226600-59227200	Flanking Active TSS	HepG2	liver
38	chr15:59226600-59244400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:59226800-59227000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr15:59226800-59227000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:59226800-59227000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr15:59226800-59227000	Enhancers	Primary T cells from cord blood	blood
43	chr15:59226800-59227000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr15:59226800-59227000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:59226800-59227000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:59226800-59227000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:59226800-59227000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr15:59226800-59227000	Enhancers	Adipose Nuclei	Adipose
49	chr15:59226800-59227000	Enhancers	Brain Angular Gyrus	brain
50	chr15:59226800-59227000	Enhancers	Brain Hippocampus Middle	brain

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