Variant report

Variant	rs150504348
Chromosome Location	chr20:52645341-52645342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:52645173..52647456-chr8:56684089..56685719,2	MCF-7	breast:
2	chr20:52643673..52645639-chr20:52687051..52688962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064787	Chromatin interaction
ENSG00000137574	Chromatin interaction
ENSG00000167904	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
3	esv2763673	chr20:52637074-52668126	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv3419	chr20:52637581-52672115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	nsv1064465	chr20:52643155-52658639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv437187	chr20:52644514-52660120	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv1058315	chr20:52644518-52658639	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv1064456	chr20:52644721-52658639	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv1055799	chr20:52644770-52657717	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv1059551	chr20:52644770-52658639	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv1067222	chr20:52644856-52658061	Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv1060500	chr20:52644856-52658639	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv1065821	chr20:52644856-52662562	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv527711	chr20:52645166-52645541	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52634800-52645400	Weak transcription	Fetal Lung	lung
2	chr20:52641400-52646000	Active TSS	Brain Anterior Caudate	brain
3	chr20:52641600-52646000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr20:52641600-52676400	Weak transcription	Stomach Mucosa	stomach
5	chr20:52641800-52646000	Active TSS	Brain Substantia Nigra	brain
6	chr20:52642200-52645400	Weak transcription	Brain Germinal Matrix	brain
7	chr20:52642200-52645600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr20:52642200-52645800	Active TSS	Brain Angular Gyrus	brain
9	chr20:52642400-52646000	Active TSS	Brain Hippocampus Middle	brain
10	chr20:52642600-52645400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:52642600-52645800	Active TSS	Brain Cingulate Gyrus	brain
12	chr20:52643200-52645400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:52643200-52645600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:52643800-52646000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:52644600-52645600	Genic enhancers	Rectal Mucosa Donor 31	rectum
16	chr20:52644800-52645600	Enhancers	Fetal Brain Female	brain
17	chr20:52644800-52645600	Enhancers	Fetal Muscle Leg	muscle
18	chr20:52644800-52646000	Strong transcription	Gastric	stomach
19	chr20:52644800-52666400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr20:52645000-52646400	Enhancers	Placenta	Placenta
21	chr20:52645200-52645600	Enhancers	HSMMtube	muscle
22	chr20:52645200-52645600	Enhancers	K562	blood
23	chr20:52645200-52646000	Enhancers	Fetal Stomach	stomach
24	chr20:52645200-52646400	Enhancers	NHDF-Ad	bronchial
25	chr20:52645200-52682200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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