Variant report

Variant	rs2518691
Chromosome Location	chr12:58149342-58149343
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	POLR2A	chr12:58149306-58149822	HCT-116	colon:	n/a	n/a
2	ZBTB7A	chr12:58148328-58150191	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
3	SUZ12	chr12:58149341-58150830	NT2-D1	testis:	n/a	n/a
4	MAX	chr12:58149318-58149781	K562	blood:	n/a	n/a
5	ZEB1	chr12:58149302-58150066	GM12878	blood:	n/a	chr12:58149709-58149720 chr12:58149708-58149717
6	MAZ	chr12:58148352-58149685	IMR90	lung:	n/a	chr12:58149254-58149264
7	POLR2A	chr12:58149260-58149988	ECC-1	luminal epithelium:	n/a	n/a
8	REST	chr12:58148027-58149365	H1-neurons	neurons:	n/a	chr12:58149045-58149055 chr12:58148029-58148038 chr12:58148716-58148729 chr12:58148719-58148732 chr12:58149019-58149032
9	MAZ	chr12:58148241-58149884	K562	blood:	n/a	chr12:58149254-58149264
10	EGR1	chr12:58149193-58149418	K562	blood:	n/a	chr12:58149289-58149299 chr12:58149222-58149235
11	YY1	chr12:58149260-58149414	K562	blood:	n/a	chr12:58149290-58149299
12	UBTF	chr12:58149247-58149922	K562	blood:	n/a	n/a
13	PAX5	chr12:58149246-58149575	GM12892	blood:	n/a	n/a
14	MAX	chr12:58149251-58149390	K562	blood:	n/a	chr12:58149254-58149264
15	CCNT2	chr12:58149284-58149867	K562	blood:	n/a	chr12:58149290-58149299
16	POLR2A	chr12:58148463-58149842	GM15510	blood:	n/a	n/a
17	TCF12	chr12:58149262-58149932	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr12:58148619-58149950	HepG2	liver:	n/a	chr12:58149247-58149258 chr12:58148739-58148750 chr12:58149290-58149299 chr12:58149012-58149026 chr12:58148887-58148897 chr12:58149072-58149081
19	UBTF	chr12:58149290-58149893	K562	blood:	n/a	n/a
20	E2F6	chr12:58149258-58149605	K562	blood:	n/a	chr12:58149290-58149299
21	YY1	chr12:58149273-58149526	GM12878	blood:	n/a	chr12:58149290-58149299
22	ZBTB7A	chr12:58148811-58149931	K562	blood:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
23	YY1	chr12:58148657-58149395	K562	blood:	n/a	chr12:58149247-58149258 chr12:58148739-58148750 chr12:58149290-58149299 chr12:58149012-58149026 chr12:58148887-58148897 chr12:58149072-58149081
24	TAF1	chr12:58149311-58150078	HepG2	liver:	n/a	n/a
25	MAX	chr12:58149137-58149885	K562	blood:	n/a	chr12:58149254-58149264
26	REST	chr12:58149322-58149833	ECC-1	luminal epithelium:	n/a	chr12:58149694-58149707 chr12:58149680-58149693
27	ZBTB7A	chr12:58148399-58150126	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
28	ELF1	chr12:58149232-58149986	GM12878	blood:	n/a	chr12:58149289-58149301
29	MAX	chr12:58149113-58149960	ECC-1	luminal epithelium:	n/a	chr12:58149254-58149264
30	MAZ	chr12:58148272-58150890	GM12878	blood:	n/a	chr12:58149254-58149264
31	SIN3A	chr12:58149312-58149932	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:58149331-58150037	Raji	blood:	n/a	n/a
33	ELF1	chr12:58149257-58149486	K562	blood:	n/a	chr12:58149289-58149301

No.	Distal block	Cell Line	Cell type
1	chr12:58026019..58028946-chr12:58148453..58151531,3	K562	blood:
2	chr12:58146971..58149952-chr17:56735164..56736689,2	MCF-7	breast:
3	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
4	chr12:58148177..58150864-chr12:58195789..58197895,2	MCF-7	breast:
5	chr12:58146595..58149356-chr12:58175469..58178051,2	K562	blood:
6	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
7	chr12:57915614..57917377-chr12:58148904..58151083,2	K562	blood:

Variant related genes	Relation type
MARCH9	TF binding region
CDK4	TF binding region
ENSG00000270039	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000202077	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58148000-58149800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:58148200-58149600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr12:58148200-58149600	Active TSS	Psoas Muscle	Psoas
4	chr12:58148200-58150000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:58148400-58149600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:58148400-58149800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:58148400-58150400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:58148400-58150600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:58148600-58149400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:58148600-58149400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:58148600-58149400	Active TSS	Primary hematopoietic stem cells	blood
12	chr12:58148600-58149600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:58148600-58149600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:58148600-58149600	Active TSS	Primary B cells from cord blood	blood
15	chr12:58148600-58149600	Active TSS	Primary T cells from cord blood	blood
16	chr12:58148600-58149600	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:58148600-58149600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:58148600-58149600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:58148600-58149600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:58148600-58149600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:58148600-58149600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:58148600-58149600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:58148600-58149600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:58148600-58149600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:58148600-58149600	Active TSS	Brain Anterior Caudate	brain
26	chr12:58148600-58149600	Active TSS	Fetal Brain Female	brain
27	chr12:58148600-58149600	Active TSS	Stomach Smooth Muscle	stomach
28	chr12:58148600-58149600	Active TSS	A549	lung
29	chr12:58148600-58149600	Active TSS	HMEC	breast
30	chr12:58148600-58149600	Bivalent/Poised TSS	HUVEC	blood vessel
31	chr12:58148600-58149800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr12:58148600-58149800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:58148600-58149800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:58148600-58149800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:58148600-58149800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:58148600-58149800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:58148600-58149800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:58148600-58149800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:58148600-58149800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr12:58148600-58149800	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr12:58148600-58149800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:58148600-58149800	Active TSS	Liver	Liver
43	chr12:58148600-58149800	Active TSS	Brain Angular Gyrus	brain
44	chr12:58148600-58149800	Active TSS	Brain Cingulate Gyrus	brain
45	chr12:58148600-58149800	Active TSS	Brain Germinal Matrix	brain
46	chr12:58148600-58149800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:58148600-58149800	Active TSS	Brain Substantia Nigra	brain
48	chr12:58148600-58149800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:58148600-58149800	Active TSS	Esophagus	oesophagus
50	chr12:58148600-58149800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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