Variant report

Variant	rs10468053
Chromosome Location	chr15:72769627-72769628
allele	C/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	POLR2A	chr15:72769546-72769711	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72769013..72771207-chr15:72803308..72805750,2	K562	blood:
2	chr15:72521977..72524663-chr15:72766747..72769820,3	MCF-7	breast:
3	chr15:72651340..72653865-chr15:72768318..72770025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261423	TF binding region
ENSG00000213614	Chromatin interaction
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs58410591	0.81[AFR][1000 genomes]
rs59583123	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10468053	MYBPC2	trans	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72767600-72769800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:72768000-72770200	Weak transcription	Gastric	stomach
3	chr15:72768200-72772800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:72768200-72775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:72768400-72769800	Enhancers	Brain Substantia Nigra	brain
6	chr15:72768400-72770000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:72768400-72770800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr15:72768400-72771200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr15:72768400-72771400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:72768400-72771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:72768400-72773800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:72768400-72775200	Weak transcription	Aorta	Aorta
13	chr15:72768400-72776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:72768400-72785400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:72768400-72793400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr15:72768600-72769800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:72768600-72769800	Enhancers	Fetal Brain Male	brain
18	chr15:72768600-72770200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:72768600-72770600	Enhancers	Fetal Heart	heart
20	chr15:72768800-72769800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:72768800-72769800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:72768800-72769800	Enhancers	Liver	Liver
23	chr15:72768800-72769800	Genic enhancers	NHEK	skin
24	chr15:72768800-72771400	Genic enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:72768800-72771400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr15:72768800-72772000	Enhancers	Brain Angular Gyrus	brain
27	chr15:72769000-72769800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr15:72769000-72770000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr15:72769000-72770000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:72769000-72770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:72769000-72770000	Flanking Active TSS	GM12878-XiMat	blood
32	chr15:72769000-72770200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:72769000-72770200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:72769000-72770200	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:72769000-72770200	Weak transcription	Placenta	Placenta
36	chr15:72769000-72770200	Weak transcription	Fetal Thymus	thymus
37	chr15:72769000-72770200	Weak transcription	Left Ventricle	heart
38	chr15:72769000-72770200	Weak transcription	Thymus	Thymus
39	chr15:72769000-72770400	Genic enhancers	Brain Hippocampus Middle	brain
40	chr15:72769000-72770400	Genic enhancers	Fetal Intestine Small	intestine
41	chr15:72769000-72770600	Enhancers	Rectal Smooth Muscle	rectum
42	chr15:72769000-72771000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:72769000-72771000	Weak transcription	Spleen	Spleen
44	chr15:72769000-72771200	Genic enhancers	Primary B cells from cord blood	blood
45	chr15:72769000-72771200	Weak transcription	Lung	lung
46	chr15:72769000-72771400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr15:72769000-72771600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:72769000-72775400	Weak transcription	Esophagus	oesophagus
49	chr15:72769000-72775400	Weak transcription	Pancreas	Pancrea
50	chr15:72769000-72775600	Weak transcription	Colonic Mucosa	Colon

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