Variant report

Variant	rs561140950
Chromosome Location	chr4:48106143-48106144
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48105485..48107311-chr4:48109938..48112634,2	MCF-7	breast:
2	chr4:47914195..47916266-chr4:48104648..48107155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253050	Chromatin interaction
ENSG00000163293	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3430950	chr4:48105345-48107693	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 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	chr4:48088600-48107800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:48097800-48111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:48104000-48106200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:48104000-48106200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:48104400-48106200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:48104400-48108000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr4:48105000-48106200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:48105000-48106400	Strong transcription	Primary T cells from cord blood	blood
11	chr4:48105200-48106200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:48105200-48106200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:48105400-48106200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:48105600-48106200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:48106000-48106200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
16	chr4:48106000-48107400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:48106000-48110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:48106000-48110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:48106000-48110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:48106000-48110800	Weak transcription	NHEK	skin
21	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood

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