Variant report

Variant	rs138804238
Chromosome Location	chr2:47547146-47547147
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47213989..47214766-chr2:47546474..47547462,2	MCF-7	breast:
2	chr2:47499653..47503286-chr2:47546650..47549919,4	MCF-7	breast:
3	chr2:47395267..47408439-chr2:47533772..47553038,55	MCF-7	breast:
4	chr2:47547112..47549558-chr2:47594942..47597072,2	MCF-7	breast:
5	chr2:47417605..47420292-chr2:47545533..47548225,3	MCF-7	breast:
6	chr2:47147988..47149803-chr2:47547062..47549076,2	MCF-7	breast:
7	chr2:47542272..47544108-chr2:47546260..47549023,2	MCF-7	breast:
8	chr2:47397795..47408487-chr2:47544823..47553969,26	MCF-7	breast:
9	chr2:47538622..47541292-chr2:47546118..47547816,2	MCF-7	breast:
10	chr2:47392818..47394891-chr2:47546000..47548920,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000119888	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	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	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv3378648	chr2:47546448-47549746	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47534400-47550400	Weak transcription	Ovary	ovary
2	chr2:47538400-47550200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:47538400-47552600	Weak transcription	Fetal Brain Female	brain
4	chr2:47538600-47548400	Weak transcription	Fetal Stomach	stomach
5	chr2:47538600-47548800	Weak transcription	NH-A	brain
6	chr2:47538600-47550200	Weak transcription	Fetal Lung	lung
7	chr2:47538800-47550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:47538800-47550600	Weak transcription	Lung	lung
9	chr2:47539000-47548800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:47539000-47550200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:47540600-47548600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:47541000-47548200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47541000-47548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:47541000-47550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:47541400-47550000	Weak transcription	Adipose Nuclei	Adipose
16	chr2:47542800-47548000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:47543000-47550000	Weak transcription	Colonic Mucosa	Colon
18	chr2:47543200-47563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:47543400-47548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:47543600-47548600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:47543600-47549400	Weak transcription	Stomach Mucosa	stomach
22	chr2:47545800-47548000	Weak transcription	Fetal Intestine Small	intestine
23	chr2:47546400-47550800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:47546800-47547200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:47546800-47547400	Enhancers	Fetal Intestine Large	intestine
26	chr2:47546800-47549000	Enhancers	Placenta	Placenta
27	chr2:47546800-47549600	Enhancers	Brain Anterior Caudate	brain
28	chr2:47546800-47549600	Enhancers	Brain Hippocampus Middle	brain
29	chr2:47546800-47550000	Enhancers	Brain Substantia Nigra	brain
30	chr2:47546800-47550200	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:47546800-47550400	Enhancers	A549	lung
32	chr2:47546800-47551200	Enhancers	HepG2	liver
33	chr2:47547000-47547200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:47547000-47547400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:47547000-47549600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:47547000-47550000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:47547000-47550200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:47547000-47550600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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