Variant report

Variant	rs527444592
Chromosome Location	chr12:58150035-58150036
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	MAZ	chr12:58149670-58150038	HepG2	liver:	n/a	n/a
2	CHD2	chr12:58149726-58150891	GM12878	blood:	n/a	n/a
3	RUNX3	chr12:58149834-58150100	GM12878	blood:	n/a	n/a
4	ZBTB7A	chr12:58149618-58150086	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr12:58148328-58150191	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
6	SUZ12	chr12:58149341-58150830	NT2-D1	testis:	n/a	n/a
7	SPI1	chr12:58149824-58150261	GM12891	blood:	n/a	chr12:58150085-58150094
8	ZEB1	chr12:58149302-58150066	GM12878	blood:	n/a	chr12:58149709-58149720 chr12:58149708-58149717
9	STAT1	chr12:58149978-58150088	GM12878	blood:	n/a	n/a
10	SPI1	chr12:58149851-58150307	HL-60	blood:	n/a	chr12:58150085-58150094
11	POLR2A	chr12:58149531-58150055	HepG2	liver:	n/a	n/a
12	MYBL2	chr12:58149529-58150327	HepG2	liver:	n/a	n/a
13	CTCF	chr12:58149940-58150090	HepG2	liver:	n/a	n/a
14	SPI1	chr12:58149963-58150204	GM12878	blood:	n/a	chr12:58150085-58150094
15	SPI1	chr12:58149862-58150276	GM12891	blood:	n/a	chr12:58150085-58150094
16	ZNF143	chr12:58149921-58150129	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:58149539-58150072	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:58149575-58150067	Hela-S3	cervix:	n/a	n/a
19	SPI1	chr12:58149939-58150237	GM12878	blood:	n/a	chr12:58150085-58150094
20	MXI1	chr12:58149964-58150907	GM12878	blood:	n/a	n/a
21	PML	chr12:58149837-58150944	GM12878	blood:	n/a	chr12:58150178-58150186
22	HA-E2F1	chr12:58149527-58150127	MCF-7	breast:	n/a	chr12:58149739-58149749
23	HEY1	chr12:58149427-58150130	HepG2	liver:	n/a	chr12:58149736-58149751
24	TAF1	chr12:58149311-58150078	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:58149594-58150819	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF12	chr12:58149842-58151017	A549	lung:	n/a	n/a
27	CEBPD	chr12:58149494-58150091	HepG2	liver:	n/a	n/a
28	HNF4A	chr12:58149697-58150040	HepG2	liver:	n/a	chr12:58149845-58149858 chr12:58149846-58149858 chr12:58149846-58149858 chr12:58149845-58149858 chr12:58149845-58149859 chr12:58149845-58149858 chr12:58149843-58149861
29	SPI1	chr12:58149740-58150539	GM12878	blood:	n/a	chr12:58150085-58150094 chr12:58150389-58150398 chr12:58150390-58150397
30	ZBTB7A	chr12:58148399-58150126	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
31	EBF1	chr12:58149837-58150338	GM12878	blood:	n/a	chr12:58149880-58149889
32	EBF1	chr12:58149856-58150193	GM12878	blood:	n/a	chr12:58149880-58149889
33	CHD2	chr12:58149941-58150082	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr12:58148272-58150890	GM12878	blood:	n/a	chr12:58149254-58149264
35	POLR2A	chr12:58149793-58151016	GM12878	blood:	n/a	n/a
36	MTA3	chr12:58149684-58151078	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:58149404-58150116	HepG2	liver:	n/a	n/a
38	POLR2A	chr12:58149331-58150037	Raji	blood:	n/a	n/a
39	POLR2A	chr12:58149516-58150111	HepG2	liver:	n/a	n/a
40	MYBL2	chr12:58149614-58150071	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
2	chr12:58148177..58150864-chr12:58195789..58197895,2	MCF-7	breast:
3	chr12:57915614..57917377-chr12:58148904..58151083,2	K562	blood:

Variant related genes	Relation type
MARCH9	TF binding region
CDK4	TF binding region
ENSG00000166987	Chromatin interaction
ENSG00000270039	Chromatin interaction
ENSG00000135454	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic 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	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3374332	chr12:58147710-58151058	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	esv3347201	chr12:58148060-58150608	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58148400-58150400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:58148400-58150600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:58148600-58150200	Active TSS	Fetal Intestine Large	intestine
4	chr12:58148600-58150200	Active TSS	Right Atrium	heart
5	chr12:58148600-58150200	Active TSS	GM12878-XiMat	blood
6	chr12:58148600-58150600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:58149200-58150200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:58149400-58150600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:58149600-58150200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr12:58149600-58150200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr12:58149600-58150200	Flanking Active TSS	Psoas Muscle	Psoas
15	chr12:58149600-58150200	Flanking Active TSS	Right Ventricle	heart
16	chr12:58149600-58150200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:58149600-58150200	Flanking Active TSS	Dnd41	blood
18	chr12:58149600-58150400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:58149600-58150400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr12:58149600-58150400	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr12:58149600-58150600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr12:58149600-58150600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:58149600-58150600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:58149600-58150600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:58149600-58150600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
26	chr12:58149600-58150600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr12:58149600-58150800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:58149600-58150800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:58149600-58150800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr12:58149600-58150800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr12:58149600-58150800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:58149600-58150800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:58149600-58150800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:58149600-58150800	Flanking Active TSS	Colonic Mucosa	Colon
35	chr12:58149600-58150800	Flanking Active TSS	HMEC	breast
36	chr12:58149600-58151000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr12:58149600-58151000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:58149600-58151000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:58149600-58151000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:58149600-58151000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:58149600-58151000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:58149800-58150200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:58149800-58150200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr12:58149800-58150200	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr12:58149800-58150200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr12:58149800-58150200	Flanking Active TSS	Left Ventricle	heart
47	chr12:58149800-58150200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
48	chr12:58149800-58150200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
49	chr12:58149800-58150400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:58149800-58150400	Flanking Active TSS	Liver	Liver

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