Variant report

Variant	rs563523973
Chromosome Location	chr2:9934032-9934033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9921109..9926354-chr2:9930407..9935197,5	K562	blood:
2	chr2:9932897..9935597-chr2:10092783..10094532,2	MCF-7	breast:
3	chr2:9933790..9936191-chr2:9936744..9939600,3	MCF-7	breast:
4	chr2:9933200..9936556-chr2:9937201..9939703,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv873621	chr2:9924387-9954598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv517701	chr2:9933956-9954768	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9931400-9935600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:9932000-9934200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:9932000-9934200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:9932000-9934200	Enhancers	Spleen	Spleen
5	chr2:9932000-9935600	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:9932200-9934200	Enhancers	Lung	lung
7	chr2:9932400-9934800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:9932600-9934200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:9932600-9934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:9932600-9934400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:9932600-9938400	Weak transcription	Adipose Nuclei	Adipose
12	chr2:9932800-9934200	Enhancers	Primary B cells from cord blood	blood
13	chr2:9932800-9934400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:9932800-9934400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:9933000-9939200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:9933000-9939400	Weak transcription	Right Ventricle	heart
17	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
18	chr2:9933400-9934200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:9933400-9934600	ZNF genes & repeats	GM12878-XiMat	blood
20	chr2:9933600-9934400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:9933600-9935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:9933600-9938400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:9934000-9934200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:9934000-9934200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:9934000-9934200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:9934000-9936600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:9934000-9938000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:9934000-9938800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:9934000-9939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:9934000-9939600	Weak transcription	Right Atrium	heart

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