Variant report

Variant	rs1798045
Chromosome Location	chr12:50444174-50444175
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50440879..50447724-chr12:50448390..50454714,11	K562	blood:
2	chr12:50432660..50433175-chr12:50444120..50444802,2	K562	blood:
3	chr12:50367042..50370413-chr12:50441830..50446012,4	K562	blood:
4	chr12:50441963..50444884-chr12:50445387..50446910,2	MCF-7	breast:
5	chr12:50442392..50444531-chr12:50445010..50447664,2	K562	blood:
6	chr12:50424617..50427330-chr12:50443083..50445011,2	MCF-7	breast:
7	chr12:50443166..50446140-chr12:50448387..50451467,3	K562	blood:
8	chr12:50431093..50436094-chr12:50443171..50446761,5	K562	blood:
9	chr12:50435507..50437968-chr12:50442114..50444463,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161800	Chromatin interaction
ENSG00000110881	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	117 gene(s)	inside rSNPs	diseases
4	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	esv3324153	chr12:50443735-50446133	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50443000-50447200	Enhancers	Fetal Brain Male	brain
2	chr12:50443400-50444200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:50443400-50445000	Enhancers	Stomach Mucosa	stomach
4	chr12:50443400-50445400	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr12:50443400-50445800	Enhancers	Placenta	Placenta
6	chr12:50443600-50444200	Enhancers	Brain Hippocampus Middle	brain
7	chr12:50443600-50444200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr12:50443600-50444400	Enhancers	Gastric	stomach
9	chr12:50443600-50445200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr12:50443800-50444200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:50443800-50444200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:50443800-50444200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr12:50443800-50444200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:50443800-50444200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:50443800-50444200	Enhancers	Brain Cingulate Gyrus	brain
16	chr12:50443800-50444200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:50443800-50444200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
18	chr12:50443800-50444200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr12:50443800-50444200	Bivalent Enhancer	Fetal Thymus	thymus
20	chr12:50443800-50444200	Enhancers	Ovary	ovary
21	chr12:50443800-50444200	Genic enhancers	Right Atrium	heart
22	chr12:50443800-50444200	Enhancers	Right Ventricle	heart
23	chr12:50443800-50444400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr12:50443800-50444400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr12:50443800-50444400	Bivalent Enhancer	Left Ventricle	heart
26	chr12:50443800-50444400	Enhancers	Lung	lung
27	chr12:50443800-50444400	Enhancers	Spleen	Spleen
28	chr12:50443800-50444600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:50443800-50445400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:50444000-50444200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50444000-50444200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:50444000-50444200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:50444000-50444200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:50444000-50444200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr12:50444000-50444200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:50444000-50444200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr12:50444000-50444200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:50444000-50444200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:50444000-50444200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr12:50444000-50444200	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:50444000-50444200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr12:50444000-50444200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:50444000-50444200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr12:50444000-50444200	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr12:50444000-50444200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
46	chr12:50444000-50444200	Enhancers	Pancreas	Pancrea
47	chr12:50444000-50444200	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr12:50444000-50444200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr12:50444000-50444400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr12:50444000-50444400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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