Variant report

Variant	rs538076448
Chromosome Location	chr21:40901225-40901226
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40901121..40903929-chr21:40907917..40910902,2	K562	blood:
2	chr21:40891069..40892721-chr21:40900987..40902576,2	MCF-7	breast:
3	chr21:40900284..40901980-chr21:41045530..41047230,2	MCF-7	breast:
4	chr21:40898411..40901316-chr21:40977081..40979354,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGR-1	chr21:40898286-40901782	NONHSAT082198

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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40888200-40907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr21:40894400-40901600	Enhancers	Pancreas	Pancrea
3	chr21:40895800-40909600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:40896000-40903000	Weak transcription	Brain Substantia Nigra	brain
5	chr21:40899000-40901400	Enhancers	Stomach Mucosa	stomach
6	chr21:40899800-40901400	Enhancers	Spleen	Spleen
7	chr21:40900000-40903000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:40900000-40905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:40900200-40902800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:40900200-40903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr21:40900400-40901600	Bivalent Enhancer	Placenta	Placenta
12	chr21:40900400-40902600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:40900400-40903000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:40900600-40901400	Enhancers	Duodenum Mucosa	Duodenum
15	chr21:40900600-40903000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:40901000-40901600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:40901000-40901600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:40901000-40901800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:40901000-40901800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr21:40901000-40903400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40901200-40902600	Weak transcription	Right Ventricle	heart
22	chr21:40901200-40910200	Weak transcription	Rectal Mucosa Donor 29	rectum

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