Variant report

Variant	rs375954127
Chromosome Location	chr12:120554089-120554090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120552974..120555854-chr12:120934971..120936620,2	K562	blood:
2	chr12:120537048..120541245-chr12:120553607..120557723,6	MCF-7	breast:
3	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
4	chr12:120553857..120555514-chr12:120592469..120594964,2	MCF-7	breast:
5	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
6	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
7	chr12:120553957..120557976-chr12:120571615..120578270,6	MCF-7	breast:
8	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
9	chr12:120516359..120519600-chr12:120552938..120556302,7	MCF-7	breast:
10	chr12:120554002..120554524-chr2:21022330..21023236,2	Hela-S3	cervix:
11	chr12:120553299..120556376-chr12:120632430..120634315,3	MCF-7	breast:
12	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
13	chr12:120554072..120556853-chr12:120607712..120610177,2	K562	blood:
14	chr12:120553041..120557313-chr12:120636619..120640383,10	K562	blood:
15	chr12:120528996..120531217-chr12:120552975..120554934,2	MCF-7	breast:
16	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
17	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
18	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
19	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
20	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:
21	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
22	chr12:120553785..120557408-chr12:120702135..120705915,4	K562	blood:
23	chr12:120554030..120557390-chr12:120602676..120607116,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263913	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000118961	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000266704	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000111737	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	esv3408817	chr12:120553094-120555942	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3345428	chr12:120553419-120556067	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120552200-120554200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:120552600-120554200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:120552600-120554200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:120552600-120554200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr12:120552800-120554200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:120552800-120554200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr12:120552800-120554200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:120552800-120554200	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr12:120553000-120554200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:120553000-120554200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:120553000-120554200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr12:120553000-120554200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:120553000-120554200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:120553000-120554200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:120553000-120554200	Flanking Active TSS	Liver	Liver
16	chr12:120553000-120554200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:120553000-120554200	Flanking Active TSS	Colonic Mucosa	Colon
18	chr12:120553000-120554200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr12:120553000-120554200	Flanking Active TSS	Thymus	Thymus
20	chr12:120553000-120554200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:120553200-120554200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr12:120553200-120554200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr12:120553200-120554200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr12:120553200-120554200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:120553200-120554200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:120553400-120554200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
27	chr12:120553400-120554200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:120553400-120554200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr12:120553400-120554200	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr12:120553400-120554200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:120553400-120554200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:120553400-120554200	Flanking Active TSS	Pancreas	Pancrea
33	chr12:120553400-120555800	Active TSS	Aorta	Aorta
34	chr12:120553400-120556000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:120553600-120554200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr12:120553600-120554200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:120553600-120554200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr12:120553600-120554200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr12:120553600-120554200	Flanking Active TSS	Fetal Thymus	thymus
40	chr12:120553600-120554200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr12:120553600-120555600	Active TSS	Fetal Muscle Trunk	muscle
42	chr12:120553600-120555600	Active TSS	Gastric	stomach
43	chr12:120553600-120555800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:120553600-120555800	Active TSS	Ovary	ovary
45	chr12:120553600-120556000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:120553600-120556000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr12:120553600-120556200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:120553600-120556200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:120553600-120556200	Active TSS	Esophagus	oesophagus
50	chr12:120553600-120556200	Active TSS	Lung	lung

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