Variant report

Variant	rs544515278
Chromosome Location	chr2:10684641-10684642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10677985..10680964-chr2:10684522..10686186,2	K562	blood:
2	chr2:10587055..10588827-chr2:10683720..10686701,2	K562	blood:

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873652	chr2:10627860-10688969	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv873653	chr2:10627860-10688969	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv9358	chr2:10630321-10686821	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv873654	chr2:10655141-10698364	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv873655	chr2:10656284-10688969	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv873656	chr2:10661047-10688969	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv873659	chr2:10664481-10688969	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv873660	chr2:10665979-10688969	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv873661	chr2:10675549-10703476	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv519963	chr2:10684391-10688969	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv525241	chr2:10684391-10703476	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10678800-10686800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:10680000-10686600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:10680000-10687200	Weak transcription	HMEC	breast
4	chr2:10680000-10687600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10680200-10687000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:10684000-10684800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:10684000-10685000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:10684000-10685000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:10684000-10685200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:10684000-10685400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:10684200-10684800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:10684200-10684800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:10684200-10684800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:10684200-10684800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:10684200-10684800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:10684200-10684800	Enhancers	Fetal Thymus	thymus
17	chr2:10684200-10684800	Enhancers	Osteobl	bone
18	chr2:10684200-10685000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:10684200-10685200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:10684400-10684800	Bivalent Enhancer	HepG2	liver
21	chr2:10684400-10685000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr2:10684400-10685000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:10684400-10688000	Weak transcription	Spleen	Spleen
24	chr2:10684600-10684800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:10684600-10685000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:10684600-10688600	Weak transcription	NH-A	brain

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