Variant report

Variant	rs550977993
Chromosome Location	chr4:78748826-78748827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78747476..78750406-chr4:78783392..78785399,2	K562	blood:
2	chr4:78747905..78749619-chr4:78782873..78784478,2	K562	blood:
3	chr4:78747873..78749550-chr4:78749630..78752055,2	MCF-7	breast:
4	chr4:78746598..78749017-chr4:78782763..78785297,2	MCF-7	breast:
5	chr4:78741277..78744126-chr4:78747638..78749332,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1824966	chr4:78747771-78823070	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:78743200-78750000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr4:78743400-78749800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:78743400-78750200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:78746600-78749800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr4:78746800-78750000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:78746800-78750000	Enhancers	Thymus	Thymus
7	chr4:78747000-78749600	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:78747000-78750000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:78747000-78750400	Enhancers	Primary T cells from cord blood	blood
10	chr4:78747000-78750600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:78747000-78750800	Enhancers	Fetal Thymus	thymus
12	chr4:78747200-78749000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:78747200-78750600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:78747800-78749800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:78747800-78750600	Enhancers	Dnd41	blood
16	chr4:78748000-78749600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:78748400-78749000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:78748600-78749000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:78748800-78749000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr4:78748800-78749000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:78748800-78749200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:78748800-78749600	Enhancers	Primary B cells from cord blood	blood

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