Variant report

Variant	rs189129109
Chromosome Location	chr2:47116664-47116665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46691412..46692513-chr2:47115934..47116752,3	MCF-7	breast:
2	chr2:46691358..46692227-chr2:47115825..47116785,3	K562	blood:
3	chr2:47115779..47117339-chr2:47120476..47123215,2	K562	blood:
4	chr2:47114369..47117073-chr2:47127351..47131177,3	K562	blood:
5	chr2:46877823..46878327-chr2:47115872..47116822,2	K562	blood:
6	chr2:47116478..47119263-chr2:47168415..47170278,2	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	esv3345303	chr2:47116425-47116781	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
2	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
4	chr2:47113200-47131200	Weak transcription	Aorta	Aorta
5	chr2:47115200-47116800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:47116000-47133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:47116200-47116800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:47116200-47119200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:47116200-47119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47116200-47119200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:47116200-47119200	Weak transcription	Left Ventricle	heart
12	chr2:47116200-47120600	Weak transcription	NHDF-Ad	bronchial
13	chr2:47116200-47121600	Weak transcription	Fetal Brain Male	brain
14	chr2:47116200-47127400	Weak transcription	Fetal Stomach	stomach
15	chr2:47116200-47128200	Weak transcription	HSMM	muscle
16	chr2:47116200-47128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:47116200-47128400	Weak transcription	NH-A	brain
18	chr2:47116200-47133000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:47116600-47116800	Enhancers	Hela-S3	cervix
20	chr2:47116600-47116800	Weak transcription	HUVEC	blood vessel
21	chr2:47116600-47117000	Enhancers	Placenta	Placenta
22	chr2:47116600-47117000	Enhancers	HepG2	liver
23	chr2:47116600-47117200	Enhancers	A549	lung
24	chr2:47116600-47117600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:47116600-47125200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:47116600-47128000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:47116600-47128200	Weak transcription	Fetal Thymus	thymus
28	chr2:47116600-47129600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:47116600-47129800	Weak transcription	Osteobl	bone
30	chr2:47116600-47131000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:47116600-47131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:47116600-47131800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:47116600-47132200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:47116600-47132400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:47116600-47132400	Weak transcription	NHEK	skin

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