Variant report

Variant	rs386376657
Chromosome Location	chr12:58119121-58119122
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:58118761-58119168	GM12891	blood:	n/a	chr12:58118890-58118903
2	POLR2A	chr12:58118770-58119486	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr12:58116495-58119415	GM12878	blood:	n/a	n/a
4	ZNF384	chr12:58119080-58119192	K562	blood:	n/a	n/a
5	POLR2A	chr12:58116503-58119299	GM12878	blood:	n/a	n/a
6	RUNX3	chr12:58118972-58119201	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:58117045-58119241	Hela-S3	cervix:	n/a	n/a
8	SPI1	chr12:58118740-58119225	HL-60	blood:	n/a	chr12:58118890-58118903

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58002964..58008004-chr12:58117447..58122099,5	MCF-7	breast:
2	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
3	chr12:57912267..57913858-chr12:58118505..58121411,2	MCF-7	breast:
4	chr12:57940714..57942505-chr12:58117953..58120525,2	MCF-7	breast:
5	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:
6	chr12:57992481..57994669-chr12:58118545..58120936,2	MCF-7	breast:
7	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
8	chr12:56553083..56553874-chr12:58118705..58119506,2	NB4	blood:
9	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
10	chr12:57984405..57986520-chr12:58117809..58119763,2	MCF-7	breast:
11	chr12:58009848..58012356-chr12:58118975..58121392,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGAP2-1	chr12:58117852-58119448	ENSG00000257499.1
2	lnc-AGAP2-1	chr12:58117852-58119448	ENSG00000257499.2

No data

Variant related genes	Relation type
ENSG00000257342	TF binding region
ENSG00000257499	TF binding region
AGAP2-AS1	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000135506	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv1851618	chr12:58109302-58131947	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv826383	chr12:58118080-58123647	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv899122	chr12:58118248-58137563	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58094400-58119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58106200-58120000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:58110000-58119800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:58112200-58119600	Weak transcription	NHDF-Ad	bronchial
5	chr12:58113400-58119600	Weak transcription	Hela-S3	cervix
6	chr12:58113400-58119600	Weak transcription	HSMM	muscle
7	chr12:58113400-58119600	Weak transcription	NHEK	skin
8	chr12:58113600-58119200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:58113800-58119800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:58114000-58120600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:58114200-58119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:58114400-58119600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:58115000-58119200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:58115000-58119800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:58115000-58120800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:58115200-58119600	Weak transcription	HUVEC	blood vessel
17	chr12:58115200-58123600	Weak transcription	GM12878-XiMat	blood
18	chr12:58115400-58119600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:58115400-58119600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:58115400-58119600	Weak transcription	HepG2	liver
21	chr12:58115600-58119200	Weak transcription	HMEC	breast
22	chr12:58115600-58119600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:58115600-58119600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:58115600-58119600	Weak transcription	Colonic Mucosa	Colon
25	chr12:58115600-58119800	Weak transcription	Pancreas	Pancrea
26	chr12:58115600-58124000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:58115800-58119200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:58115800-58119600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:58115800-58119600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:58115800-58119600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:58115800-58119600	Weak transcription	Brain Anterior Caudate	brain
32	chr12:58115800-58119600	Weak transcription	Left Ventricle	heart
33	chr12:58115800-58119600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:58115800-58119600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:58115800-58119600	Weak transcription	NHLF	lung
36	chr12:58115800-58119800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:58115800-58119800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:58115800-58119800	Weak transcription	Liver	Liver
39	chr12:58115800-58119800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:58116000-58119200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:58116000-58119200	Weak transcription	Lung	lung
42	chr12:58116000-58119600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:58116000-58119600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:58116000-58119600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:58116000-58119600	Weak transcription	Adipose Nuclei	Adipose
46	chr12:58116000-58119600	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:58116000-58119600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:58116000-58119600	Weak transcription	Fetal Brain Female	brain
49	chr12:58116000-58119600	Weak transcription	Ovary	ovary
50	chr12:58116000-58119600	Weak transcription	Right Ventricle	heart

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