Variant report

Variant	rs567697666
Chromosome Location	chr12:58119476-58119477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58118770-58119486	H1-neurons	neurons:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57912789..57915911-chr12:58119258..58122771,4	MCF-7	breast:
2	chr12:58002964..58008004-chr12:58117447..58122099,5	MCF-7	breast:
3	chr12:58026571..58028240-chr12:58118727..58121626,2	MCF-7	breast:
4	chr12:57912267..57913858-chr12:58118505..58121411,2	MCF-7	breast:
5	chr12:57940714..57942505-chr12:58117953..58120525,2	MCF-7	breast:
6	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:
7	chr12:57992481..57994669-chr12:58118545..58120936,2	MCF-7	breast:
8	chr12:57915482..57918597-chr12:58119014..58121092,3	MCF-7	breast:
9	chr12:56553083..56553874-chr12:58118705..58119506,2	NB4	blood:
10	chr12:58119467..58120431-chr2:220042425..220043204,2	Hela-S3	cervix:
11	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
12	chr12:57983656..57985947-chr12:58119170..58122047,3	MCF-7	breast:
13	chr12:57984405..57986520-chr12:58117809..58119763,2	MCF-7	breast:
14	chr12:58009848..58012356-chr12:58118975..58121392,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257499	TF binding region
ENSG00000257342	TF binding region
AGAP2-AS1	TF binding region
ENSG00000092841	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000115649	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000144567	Chromatin interaction
ENSG00000175203	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:89 , 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	chr12:58113800-58119800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:58114000-58120600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:58114200-58119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:58114400-58119600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:58115000-58119800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:58115000-58120800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:58115200-58119600	Weak transcription	HUVEC	blood vessel
15	chr12:58115200-58123600	Weak transcription	GM12878-XiMat	blood
16	chr12:58115400-58119600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:58115400-58119600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:58115400-58119600	Weak transcription	HepG2	liver
19	chr12:58115600-58119600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:58115600-58119600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:58115600-58119600	Weak transcription	Colonic Mucosa	Colon
22	chr12:58115600-58119800	Weak transcription	Pancreas	Pancrea
23	chr12:58115600-58124000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:58115800-58119600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:58115800-58119600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:58115800-58119600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:58115800-58119600	Weak transcription	Brain Anterior Caudate	brain
28	chr12:58115800-58119600	Weak transcription	Left Ventricle	heart
29	chr12:58115800-58119600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:58115800-58119600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:58115800-58119600	Weak transcription	NHLF	lung
32	chr12:58115800-58119800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:58115800-58119800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:58115800-58119800	Weak transcription	Liver	Liver
35	chr12:58115800-58119800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:58116000-58119600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:58116000-58119600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:58116000-58119600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:58116000-58119600	Weak transcription	Adipose Nuclei	Adipose
40	chr12:58116000-58119600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:58116000-58119600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:58116000-58119600	Weak transcription	Fetal Brain Female	brain
43	chr12:58116000-58119600	Weak transcription	Ovary	ovary
44	chr12:58116000-58119600	Weak transcription	Right Ventricle	heart
45	chr12:58116000-58119600	Weak transcription	Small Intestine	intestine
46	chr12:58116000-58119600	Weak transcription	Thymus	Thymus
47	chr12:58116000-58119600	Weak transcription	Dnd41	blood
48	chr12:58116000-58119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:58116000-58119800	Weak transcription	Brain Angular Gyrus	brain
50	chr12:58116000-58119800	Weak transcription	Brain Substantia Nigra	brain

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