Variant report

Variant	rs11054844
Chromosome Location	chr12:12511871-12511872
allele	C/T
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:11)
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	HCFC1	chr12:12509371-12512219	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:12509599..12512153-chr12:12848294..12850312,2	MCF-7	breast:
2	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
3	chr12:12501083..12504981-chr12:12508403..12511914,10	MCF-7	breast:
4	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
5	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
6	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:
7	chr12:12508799..12512106-chr12:12876417..12880418,4	MCF-7	breast:
8	chr12:12419370..12422118-chr12:12510348..12512093,2	MCF-7	breast:
9	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
10	chr12:12510495..12512125-chr12:12760276..12763273,2	MCF-7	breast:
11	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
ENSG00000070018	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000183150	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12510400-12512200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr12:12510800-12512000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:12510800-12512200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr12:12510800-12512200	Flanking Active TSS	Dnd41	blood
5	chr12:12510800-12515800	Weak transcription	Lung	lung
6	chr12:12510800-12518000	Weak transcription	Gastric	stomach
7	chr12:12510800-12519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:12510800-12527400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:12510800-12528200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:12511000-12515600	Weak transcription	Ovary	ovary
11	chr12:12511000-12520600	Weak transcription	Left Ventricle	heart
12	chr12:12511200-12512000	Enhancers	Colon Smooth Muscle	Colon
13	chr12:12511200-12512000	Enhancers	Fetal Heart	heart
14	chr12:12511200-12512000	Active TSS	Thymus	Thymus
15	chr12:12511200-12512200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:12511200-12512200	Enhancers	Fetal Kidney	kidney
17	chr12:12511200-12512200	Enhancers	Small Intestine	intestine
18	chr12:12511200-12522200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:12511200-12525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:12511400-12512000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:12511400-12512000	Enhancers	Fetal Muscle Leg	muscle
22	chr12:12511400-12512000	Enhancers	Fetal Thymus	thymus
23	chr12:12511400-12512000	Weak transcription	Psoas Muscle	Psoas
24	chr12:12511400-12512000	Enhancers	Stomach Mucosa	stomach
25	chr12:12511400-12512200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:12511400-12512200	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:12511400-12512200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:12511400-12512200	Enhancers	Fetal Intestine Large	intestine
29	chr12:12511400-12512600	Weak transcription	Pancreas	Pancrea
30	chr12:12511400-12512800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:12511400-12512800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:12511400-12513400	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:12511400-12513600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:12511400-12515600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:12511400-12515800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:12511400-12518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:12511400-12518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:12511400-12518800	Weak transcription	Placenta	Placenta
39	chr12:12511400-12519000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:12511400-12519000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:12511400-12519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:12511400-12519000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:12511400-12532600	Weak transcription	Fetal Lung	lung
44	chr12:12511400-12532800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:12511400-12535000	Weak transcription	Esophagus	oesophagus
46	chr12:12511400-12537800	Weak transcription	HSMMtube	muscle
47	chr12:12511400-12540600	Weak transcription	HSMM	muscle
48	chr12:12511600-12512000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:12511600-12512000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:12511600-12512000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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