Variant report

Variant	rs60397708
Chromosome Location	chr15:40609572-40609573
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	MAFK	chr15:40609356-40609596	HepG2	liver:	n/a	chr15:40609482-40609497
2	MAFF	chr15:40609434-40609603	HepG2	liver:	n/a	chr15:40609481-40609499
3	MAFF	chr15:40609334-40609586	K562	blood:	n/a	chr15:40609481-40609499
4	MAFK	chr15:40609318-40609633	HepG2	liver:	n/a	chr15:40609482-40609497

No.	Distal block	Cell Line	Cell type
1	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
2	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
3	chr15:40604102..40606579-chr15:40607804..40610133,2	K562	blood:
4	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
5	chr15:40609528..40613420-chr15:40614090..40617606,5	K562	blood:
6	chr15:40601564..40604029-chr15:40608282..40611704,3	K562	blood:
7	chr15:40604102..40606720-chr15:40607804..40609983,2	K562	blood:
8	chr15:40601542..40603378-chr15:40607620..40610047,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244705	TF binding region
ENSG00000259198	Chromatin interaction
ENSG00000244705	Chromatin interaction
ENSG00000259330	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55904487	1.00[AMR][1000 genomes]
rs57094441	1.00[AMR][1000 genomes]
rs59636068	1.00[AMR][1000 genomes]
rs7164303	1.00[AMR][1000 genomes]
rs74011146	1.00[AMR][1000 genomes]
rs74011152	1.00[AMR][1000 genomes]
rs74011153	1.00[AMR][1000 genomes]
rs74013054	1.00[AMR][1000 genomes]
rs74013056	1.00[AMR][1000 genomes]
rs8040294	1.00[AMR][1000 genomes]
rs8041445	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv984054	chr15:40603452-40612578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40584200-40614800	Weak transcription	Gastric	stomach
2	chr15:40600000-40614600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:40601200-40612800	Weak transcription	Right Ventricle	heart
4	chr15:40602000-40612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:40602000-40613000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:40602000-40614600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:40602200-40612600	Weak transcription	Spleen	Spleen
8	chr15:40602600-40614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:40606000-40615200	Weak transcription	Psoas Muscle	Psoas
10	chr15:40606600-40615000	Weak transcription	Colonic Mucosa	Colon
11	chr15:40607200-40613000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:40607400-40612400	Weak transcription	Fetal Heart	heart
13	chr15:40607400-40612600	Weak transcription	Pancreas	Pancrea
14	chr15:40607400-40613000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:40607400-40613000	Weak transcription	Fetal Thymus	thymus
16	chr15:40607400-40614600	Weak transcription	Hela-S3	cervix
17	chr15:40607600-40612600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:40607600-40614600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:40607800-40610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:40607800-40612200	Weak transcription	HSMMtube	muscle
21	chr15:40607800-40613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:40607800-40613000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:40607800-40613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:40607800-40614200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:40607800-40614200	Weak transcription	HMEC	breast
26	chr15:40608000-40613000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:40608000-40614600	Weak transcription	HSMM	muscle
28	chr15:40608000-40615000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:40608200-40612800	Weak transcription	HUVEC	blood vessel
30	chr15:40609000-40610000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr15:40609000-40610800	Enhancers	Primary B cells from cord blood	blood
32	chr15:40609000-40610800	Enhancers	Primary B cells from peripheral blood	blood
33	chr15:40609400-40610600	Enhancers	GM12878-XiMat	blood
34	chr15:40609400-40614400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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