Variant report

Variant	rs112389996
Chromosome Location	chr2:180092143-180092144
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180091158..180092678-chr2:180127658..180130558,2	MCF-7	breast:
2	chr2:180091649..180092168-chr20:53297444..53298069,2	MCF-7	breast:
3	chr2:180091710..180093707-chr2:180097296..180099649,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187231	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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv3061	chr2:180057194-180095718	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3341806	chr2:180070495-180093344	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1798738	chr2:180084168-180100584	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
3	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:180083800-180102200	Weak transcription	HMEC	breast
6	chr2:180087200-180097600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:180087400-180094800	Weak transcription	Osteobl	bone
8	chr2:180087600-180095800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:180088400-180093000	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:180088600-180092200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:180088800-180098400	Weak transcription	Spleen	Spleen
12	chr2:180089000-180093000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:180089000-180093000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:180089000-180093000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:180089000-180093400	Enhancers	Brain Anterior Caudate	brain
16	chr2:180089200-180092400	Weak transcription	Ovary	ovary
17	chr2:180089600-180095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:180089600-180115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:180089800-180095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:180089800-180095000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:180089800-180100200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:180089800-180100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:180089800-180102000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:180090000-180092600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:180090000-180093800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:180090000-180098400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:180090000-180102000	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:180090200-180092200	Enhancers	Brain Germinal Matrix	brain
29	chr2:180090400-180092600	Enhancers	Liver	Liver
30	chr2:180090400-180092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:180090400-180093000	Enhancers	Adipose Nuclei	Adipose
32	chr2:180090600-180102000	Weak transcription	Psoas Muscle	Psoas
33	chr2:180090600-180102400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:180091000-180092800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:180091000-180093400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:180091200-180092400	Weak transcription	Pancreas	Pancrea
37	chr2:180091200-180092800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:180091200-180102400	Weak transcription	Left Ventricle	heart
39	chr2:180091200-180104600	Weak transcription	Right Ventricle	heart
40	chr2:180091400-180092200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:180091400-180092400	Weak transcription	Lung	lung
42	chr2:180091400-180092400	Enhancers	HepG2	liver
43	chr2:180091400-180092600	Enhancers	Brain Substantia Nigra	brain
44	chr2:180091400-180093200	Enhancers	Brain Hippocampus Middle	brain
45	chr2:180091600-180092200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:180091600-180092200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:180091600-180092200	Weak transcription	Right Atrium	heart
48	chr2:180091600-180093200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:180091600-180093800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:180091600-180098200	Weak transcription	Primary monocytes fromperipheralblood	blood

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