Variant report

Variant	rs576870185
Chromosome Location	chr15:75650675-75650676
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	chr15:75650640-75651098	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:75650538-75651511	GM12892	blood:	n/a	n/a
3	POLR2A	chr15:75650613-75655985	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:75650366-75655745	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:75650642-75651479	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:75650574-75651385	A549	lung:	n/a	n/a
7	POLR2A	chr15:75650375-75650697	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:75650307-75651466	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:75650541-75650696	K562	blood:	n/a	n/a
10	POLR2A	chr15:75650610-75651285	K562	blood:	n/a	n/a
11	POLR2A	chr15:75650465-75655849	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75628778..75631510-chr15:75648708..75650958,2	MCF-7	breast:

Variant related genes	Relation type
MAN2C1	TF binding region
MIR631	TF binding region
ENSG00000260591	TF binding region
ENSG00000140365	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
6	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
8	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
9	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
10	esv3405064	chr15:75649949-75652747	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75641200-75655000	Weak transcription	K562	blood
2	chr15:75641400-75651200	Weak transcription	HSMM	muscle
3	chr15:75641400-75655400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:75641400-75658600	Weak transcription	HUVEC	blood vessel
5	chr15:75641600-75654200	Weak transcription	Small Intestine	intestine
6	chr15:75641600-75659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:75641600-75659600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:75641800-75651400	Weak transcription	Stomach Mucosa	stomach
9	chr15:75641800-75659600	Weak transcription	Fetal Heart	heart
10	chr15:75642000-75659600	Strong transcription	Fetal Intestine Small	intestine
11	chr15:75642200-75659800	Weak transcription	Fetal Brain Male	brain
12	chr15:75642400-75659800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:75642800-75654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:75643000-75659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:75643200-75659800	Weak transcription	Right Atrium	heart
16	chr15:75643400-75654400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:75643400-75656800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:75643600-75656200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:75643800-75657000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:75644000-75651000	Weak transcription	Primary B cells from cord blood	blood
21	chr15:75644200-75659600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr15:75644200-75659800	Strong transcription	Fetal Stomach	stomach
23	chr15:75644400-75657600	Strong transcription	Gastric	stomach
24	chr15:75644400-75658000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:75644400-75658800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:75644400-75659600	Strong transcription	Colonic Mucosa	Colon
27	chr15:75644400-75659600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr15:75644400-75659800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:75644600-75659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:75644800-75659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:75645600-75659800	Strong transcription	Placenta	Placenta
32	chr15:75645800-75659600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:75645800-75659600	Strong transcription	Fetal Intestine Large	intestine
34	chr15:75645800-75660000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:75646000-75652400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:75646000-75659200	Strong transcription	Brain Germinal Matrix	brain
37	chr15:75646000-75659200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr15:75646000-75659400	Strong transcription	Primary T cells from cord blood	blood
39	chr15:75646000-75659400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:75646000-75659400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:75646000-75659800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:75646000-75659800	Strong transcription	NHLF	lung
43	chr15:75646000-75660200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:75646200-75659400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:75646200-75659400	Strong transcription	Esophagus	oesophagus
46	chr15:75646200-75659600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:75646200-75659600	Strong transcription	Adipose Nuclei	Adipose
48	chr15:75646200-75659600	Strong transcription	NHEK	skin
49	chr15:75646200-75659800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:75646200-75659800	Strong transcription	Fetal Muscle Leg	muscle

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