Variant report

Variant	rs540938708
Chromosome Location	chr2:47429602-47429603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47429443..47431361-chr2:47434372..47436330,2	K562	blood:
2	chr2:47428218..47430266-chr2:47464257..47466484,2	K562	blood:
3	chr2:47422552..47429870-chr2:47496148..47502457,12	MCF-7	breast:

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	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
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47421400-47432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:47421400-47432800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47421600-47432600	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:47422200-47432800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:47423200-47432400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:47423800-47431400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:47426600-47431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:47426800-47432400	Weak transcription	Lung	lung
9	chr2:47427000-47435200	Weak transcription	Hela-S3	cervix
10	chr2:47427000-47435800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:47427400-47430800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:47427400-47433400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:47428400-47430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:47428400-47431800	Weak transcription	K562	blood
15	chr2:47428400-47437800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:47428800-47430200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:47428800-47430400	Weak transcription	Brain Angular Gyrus	brain
18	chr2:47428800-47430800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:47428800-47432400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:47428800-47432400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:47428800-47432400	Weak transcription	Ovary	ovary
22	chr2:47428800-47432400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:47428800-47432600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:47428800-47432600	Weak transcription	HSMM	muscle
25	chr2:47428800-47432600	Weak transcription	NH-A	brain
26	chr2:47428800-47441000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:47428800-47442000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:47429000-47430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:47429000-47430800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:47429000-47431200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:47429000-47432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:47429000-47432400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:47429000-47432600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:47429000-47432600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:47429000-47433000	Weak transcription	A549	lung
36	chr2:47429000-47438400	Weak transcription	Brain Anterior Caudate	brain
37	chr2:47429200-47432800	Weak transcription	NHLF	lung
38	chr2:47429200-47435800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:47429400-47432200	Weak transcription	Osteobl	bone

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