Variant report

Variant	rs550454688
Chromosome Location	chr15:77711490-77711491
allele	C/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	SIN3AK20	chr15:77711369-77712093	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr15:77711376-77711576	MCF10A-Er-Src	breast:	n/a	n/a
3	RFX5	chr15:77711201-77712051	Hela-S3	cervix:	n/a	n/a
4	MAZ	chr15:77711447-77713888	GM12878	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
5	FOS	chr15:77711296-77711496	MCF10A-Er-Src	breast:	n/a	n/a
6	CHD2	chr15:77711455-77713966	Hela-S3	cervix:	n/a	chr15:77711545-77711555
7	POLR2A	chr15:77710728-77713515	IMR90	lung:	n/a	n/a
8	TBP	chr15:77711447-77712018	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:77711409-77713847	HepG2	liver:	n/a	n/a
10	MAZ	chr15:77711446-77713738	K562	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
11	ZBTB7A	chr15:77711340-77712620	ECC-1	luminal epithelium:	n/a	chr15:77712372-77712383 chr15:77711763-77711774 chr15:77712371-77712382
12	UBTF	chr15:77711276-77713516	K562	blood:	n/a	n/a
13	SMC3	chr15:77711175-77714043	Hela-S3	cervix:	n/a	chr15:77711935-77711945
14	ZBTB7A	chr15:77711440-77712531	K562	blood:	n/a	chr15:77712372-77712383 chr15:77711763-77711774 chr15:77712371-77712382
15	RCOR1	chr15:77711260-77714321	K562	blood:	n/a	n/a
16	MAFK	chr15:77711417-77711664	Hela-S3	cervix:	n/a	n/a
17	MAZ	chr15:77710652-77714451	IMR90	lung:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
18	PML	chr15:77711206-77711910	GM12878	blood:	n/a	n/a
19	MAX	chr15:77711447-77713980	Hela-S3	cervix:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
20	RAD21	chr15:77710639-77712623	IMR90	lung:	n/a	chr15:77711533-77711547
21	MXI1	chr15:77711388-77711914	GM12878	blood:	n/a	n/a
22	ZNF384	chr15:77711400-77711899	K562	blood:	n/a	n/a
23	MAX	chr15:77711463-77713990	K562	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
24	CREB1	chr15:77711461-77713745	GM12878	blood:	n/a	n/a
25	ZKSCAN1	chr15:77711430-77711971	Hela-S3	cervix:	n/a	n/a
26	STAT3	chr15:77711321-77711561	MCF10A-Er-Src	breast:	n/a	chr15:77711475-77711483
27	ELK1	chr15:77711445-77711835	GM12878	blood:	n/a	n/a
28	GTF2F1	chr15:77711418-77711804	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr15:77711286-77711765	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr15:77711328-77712790	ProgFib	skin:	n/a	n/a
31	MAX	chr15:77711389-77714083	A549	lung:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
32	MTA3	chr15:77710883-77712065	GM12878	blood:	n/a	n/a
33	UBTF	chr15:77711263-77712667	K562	blood:	n/a	n/a
34	MXI1	chr15:77710812-77714549	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr15:77711435-77711981	HUVEC	blood vessel:	n/a	n/a
36	ZNF263	chr15:77711155-77711948	HEK293-T-REx	kidney:	n/a	chr15:77711547-77711556 chr15:77711536-77711557
37	HCFC1	chr15:77710661-77714679	Hela-S3	cervix:	n/a	n/a
38	NRF1	chr15:77711344-77713633	SK-N-SH	brain:	n/a	chr15:77711540-77711549
39	GATA3	chr15:77709823-77711753	SK-N-SH	brain:	n/a	chr15:77710536-77710545 chr15:77710536-77710543 chr15:77710536-77710543 chr15:77710536-77710543
40	ZBTB7A	chr15:77711425-77712581	ECC-1	luminal epithelium:	n/a	chr15:77712372-77712383 chr15:77711763-77711774 chr15:77712371-77712382
41	SIN3A	chr15:77711253-77714015	H1-hESC	embryonic stem cell:	n/a	chr15:77712250-77712263 chr15:77711994-77712005
42	MAX	chr15:77711478-77713902	K562	blood:	n/a	chr15:77711944-77711954 chr15:77712740-77712750
43	MXI1	chr15:77710378-77714696	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77709022..77711510-chr15:77717279..77719349,2	K562	blood:
2	chr15:77695120..77697268-chr15:77709701..77711591,2	K562	blood:
3	chr15:77688577..77690434-chr15:77709040..77711857,2	K562	blood:

Variant related genes	Relation type
HMG20A	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv21291	chr15:77707945-77712363	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3422226	chr15:77710922-77713870	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
8	esv3327387	chr15:77711172-77713620	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77709400-77711600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:77709600-77712600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:77709600-77713800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:77710200-77711600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:77710200-77713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr15:77710200-77714400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:77710200-77714400	Active TSS	Right Atrium	heart
8	chr15:77710400-77711600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr15:77710400-77713800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:77710400-77714400	Active TSS	Right Ventricle	heart
11	chr15:77710400-77714400	Active TSS	NHDF-Ad	bronchial
12	chr15:77710400-77714600	Active TSS	NHLF	lung
13	chr15:77710600-77711600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:77710600-77711600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:77710600-77711800	Flanking Active TSS	Dnd41	blood
16	chr15:77710600-77713600	Active TSS	HSMMtube	muscle
17	chr15:77710600-77713800	Active TSS	Colon Smooth Muscle	Colon
18	chr15:77710600-77713800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr15:77710600-77714200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr15:77710600-77714200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:77710600-77714600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:77710800-77711600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr15:77710800-77711600	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr15:77710800-77711600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr15:77710800-77711600	Flanking Active TSS	Hela-S3	cervix
26	chr15:77710800-77711600	Flanking Active TSS	HMEC	breast
27	chr15:77710800-77711600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr15:77710800-77711800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr15:77710800-77711800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr15:77710800-77711800	Flanking Active TSS	NHEK	skin
31	chr15:77710800-77712000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr15:77710800-77712000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:77710800-77713600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:77710800-77713600	Active TSS	Fetal Kidney	kidney
35	chr15:77710800-77713600	Active TSS	Placenta	Placenta
36	chr15:77710800-77713800	Active TSS	Duodenum Mucosa	Duodenum
37	chr15:77710800-77714000	Active TSS	Colonic Mucosa	Colon
38	chr15:77710800-77714000	Active TSS	Left Ventricle	heart
39	chr15:77710800-77714200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:77710800-77714200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:77710800-77714200	Active TSS	Fetal Muscle Trunk	muscle
42	chr15:77710800-77714200	Active TSS	Psoas Muscle	Psoas
43	chr15:77710800-77714600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:77711000-77711600	Flanking Active TSS	Stomach Mucosa	stomach
45	chr15:77711000-77711800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr15:77711000-77711800	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr15:77711000-77712000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:77711000-77713600	Active TSS	Fetal Muscle Leg	muscle
49	chr15:77711000-77713800	Active TSS	Fetal Stomach	stomach
50	chr15:77711000-77713800	Active TSS	Osteobl	bone

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